@article{UBHD-67704570,
  author={Bacon, Claire and Schneider, Miriam and Fr{\"o}hlich, Henning and Sticht, Carsten and Monyer, Hannah and Rappold, Gudrun},
  title={Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour},
  year={2014},
  pages={632–639},
  language={eng},
  issn={1476-5578},
  volume={20},
  note={Gesehen am 14.11.2014},
  journal={Molecular psychiatry},
  doi={10.1038/mp.2014.116},
}
@article{UBHD-68284040,
  author={Bacon, Claire and Endris, Volker and Rappold, Gudrun},
  title={The cellular function of srGAP3 and its role in neuronal morphogenesis},
  year={2013},
  pages={391-395},
  language={eng},
  issn={1872-6356},
  volume={130},
  number={6},
  note={Gesehen am 10.07.2018 ; Available online 2 November 2012},
  journal={Mechanisms of development},
  doi={10.1016/j.mod.2012.10.005},
}
@article{UBHD-68255682,
  author={Bacon, Claire and Rappold, Gudrun},
  title={The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders},
  year={2012},
  pages={1687-1698},
  language={eng},
  issn={1432-1203},
  volume={131},
  number={11},
  note={Gesehen am 29.05.2018},
  journal={Human genetics},
  doi={10.1007/s00439-012-1193-z},
}
@article{UBHD-68899635,
  author={Bacon, Claire and Endris, Volker and Andermatt, Irwin and Niederkofler, Vera and Waltereit, Robert and Bartsch, Dusan and Stoeckli, Esther T. and Rappold, Gudrun},
  title={Evidence for a role of srGAP3 in the positioning of commissural axons within the ventrolateral funiculus of the mouse spinal cord},
  year={2011},
  pages={1-9},
  language={eng},
  issn={1932-6203},
  volume={6},
  note={Gesehen am 25.03.2022},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0019887},
}
@article{UBHD-68720181,
  author={Bauer, Matthias F. and Gempel, Klaus and Reichert, Andreas and Rappold, Gudrun and Lichtner, Peter and Gerbitz, Klaus-Dieter and Neupert, Walter and Brunner, Michael and Hofmann, Sabine},
  title={Genetic and structural characterization of the human mitochondrial inner membrane translocase},
  year={1999},
  pages={69-82},
  language={eng},
  issn={1089-8638},
  volume={289},
  number={1},
  note={Online 25 May 2002 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 06.04.2021},
  journal={Journal of molecular biology},
  doi={10.1006/jmbi.1999.2751},
}
@article{UBHD-67925182,
  author={Beiser, Katja U. and Glaser, Anne and Scholl, Isabell and R{\"o}th, Ralph and Gretz, Norbert and Mechtersheimer, Gunhild and Marchini, Antonio and Richter, Wiltrud and Rappold, Gudrun},
  title={Identification of novel SHOX target genes in the developing limb using a transgenic mouse model},
  year={2014},
  pages={10 S.},
  language={eng},
  issn={1932-6203},
  volume={9(2014},
  note={Gesehen am: 14.01.2016},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0098543},
}
@article{UBHD-68937587,
  author={Berens, Sabrina and Dong, Yuanjun and Fritz, Nikola and Walstab, Jutta and D'Amato, Mauro and Zheng, Tenghao and Wahl, Verena and Boekstegers, Felix and Lorenzo Bermejo, Justo and Martinez, Cristina and Schmitteckert, Stefanie and Clevers, Egbert and Engel, Felicitas and Gauss, Annika and Herzog, Wolfgang and Spiller, Robin and Goebel-Stengel, Miriam and M{\"o}nnikes, Hubert and Andresen, Viola and Thomas, Frieling and Keller, Jutta and Pehl, Christian and Stein-Th{\"o}ringer, Christoph and Clarke, Gerard and Dinan, Timothy G. and Quigley, Eamonn M. and Sayuk, Gregory and Simrén, Magnus and Tesarz, Jonas and Rappold, Gudrun and Oudenhove, Lukas van and Schaefert, Rainer and Niesler, Beate},
  title={Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome},
  subtitle={a multicenter retrospective study},
  year={2022},
  pages={2334-2349},
  language={eng},
  issn={2219-2840},
  volume={28},
  number={21},
  note={Gesehen am 05.07.2022},
  journal={World journal of gastroenterology},
  doi={10.3748/wjg.v28.i21.2334},
  url={https://doi.org/10.3748/wjg.v28.i21.2334},
  library={UB},
}
@article{UBHD-68239069,
  author={Berkel, Simone and Gass, Peter and Schratt, Gerhard and Rappold, Gudrun},
  title={Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology},
  year={2012},
  pages={344-357},
  language={eng},
  issn={1460-2083},
  volume={21},
  number={2},
  note={Gesehen am 04.04.2018},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddr470},
}
@article{UBHD-67301456,
  author={Berkel, Simone and Schratt, Gerhard and Rappold, Gudrun},
  title={Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology},
  year={2012},
  pages={344-357},
  language={eng},
  issn={0964-6906},
  volume={21},
  number={2},
  journal={Human molecular genetics},
}
@article{UBHD-69008531,
  author={Berkel, Simone and Marshall, Christian R. and Weiß, Birgit and Howe, Jennifer and R{\"o}th, Ralph and Moog, Ute and Endris, Volker and Roberts, Wendy and Szatmari, Peter and Pinto, Dalila and Bonin, Michael and Riess, Angelika and Engels, Hartmut and Sprengel, Rolf and Scherer, Stephen W. and Rappold, Gudrun},
  title={Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation},
  year={2010},
  pages={489-491},
  language={eng},
  issn={1546-1718},
  volume={42},
  number={6},
  note={Gesehen am 20.01.2023},
  journal={Nature genetics},
  doi={10.1038/ng.589},
}
@article{UBHD-68309643,
  author={Berkel, Simone and Eltokhi, Ahmed and Fr{\"o}hlich, Henning and Porras-Gonzalez, Diana and Rafiullah, Rafiullah and Sprengel, Rolf and Rappold, Gudrun},
  title={Sex hormones regulate SHANK expression},
  year={2018},
  pages={10 S.},
  language={eng},
  issn={1662-5099},
  volume={11},
  number={Artikel-ID 337},
  note={Gesehen am 27.09.2018},
  journal={Frontiers in molecular neuroscience},
  doi={10.3389/fnmol.2018.00337},
  url={http://dx.doi.org/10.3389/fnmol.2018.00337},
  library={UB},
}
@article{UBHD-68716934,
  author={Blaschke, R{\"u}diger J{\"o}rg and Monaghan, A. Paula and Bock, Dagmar and Rappold, Gudrun},
  title={A novel murine PKA-related protein kinase involved in neuronal differentiation},
  year={2000},
  pages={187-194},
  language={eng},
  issn={1089-8646},
  volume={64},
  number={2},
  note={Gesehen am 25.03.2021},
  journal={Genomics},
  doi={10.1006/geno.2000.6116},
}
@article{UBHD-68716945,
  author={Blaschke, R{\"u}diger J{\"o}rg and Monaghan, A. Paula and W{\"o}ginger, Simone and Wogatzky, Birgit and Rao, Ercole and Padilla-Nash, Hesed and Ried, Thomas and Rappold, Gudrun},
  title={SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development},
  year={1998},
  pages={2406-2411},
  language={eng},
  issn={1091-6490},
  volume={95},
  number={5},
  note={Gesehen am 25.03.2021},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  doi={10.1073/pnas.95.5.2406},
}
@article{UBHD-68716216,
  author={Blaschke, R{\"u}diger J{\"o}rg and Rappold, Gudrun},
  title={SHOX in short stature syndromes},
  year={2001},
  pages={21-23},
  language={eng},
  issn={1423-0046},
  volume={55},
  number={Suppl 1},
  note={Elektronische Reproduktion der Druck-Ausgabe ; Published online: November 17, 2004 ; Gesehen am 24.03.2021},
  journal={Hormone research},
  doi={10.1159/000063458},
}
@article{UBHD-68666377,
  author={Blum, Werner F. and Ross, Judith L. and Zimmermann, Alan G. and Quigley, Charmian A. and Child, Christopher J. and Kalifa, Gabriel and Deal, Cheri and Drop, Stenvert L. S. and Rappold, Gudrun and Cutler, Gordon B.},
  title={GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome},
  subtitle={results of a multicenter trial},
  year={2013},
  pages={E1383-E1392},
  language={eng},
  issn={1945-7197},
  volume={98},
  number={8},
  note={Gesehen am 27.11.2020},
  journal={The journal of clinical endocrinology & metabolism},
  doi={10.1210/jc.2013-1222},
}
@article{UBHD-68054269,
  author={B{\"o}ttner, Martina and Laaff, Martin and Wogatzky, Birgit and Rappold, Gudrun and Unsicker, Klaus and Suter-Crazzolara, Clemens},
  title={Characterization of the rat, mouse, and human genes of growth/differentiation factor-15/macrophage inhibiting cytokine-1 (GDF-15/MIC-1)},
  year={1999},
  pages={105-111},
  language={eng},
  issn={1879-0038},
  volume={237},
  number={1},
  note={Vom Autor angegeben als "Characterization of the human, rat, and mouse genes of a novel TGF-beta superfamily member" ; Gesehen am 23.11..2016},
  journal={Gene},
  doi={10.1016/S0378-1119(99)00309-1},
}
@article{UBHD-68720636,
  author={Calabrese, Gaetano and Fischetto, Rita and Stuppia, Liborio and Capodiferro, Francesca and Mingarelli, Rita. and Causio, Franco and Rocchi, Mariano and Rappold, Gudrun and Palka, Giandomenico},
  title={X/Y translocation in a family with Leri-Weill dyschondrosteosis},
  year={1999},
  pages={367-368},
  language={eng},
  issn={1432-1203},
  volume={105},
  number={4},
  note={Gesehen am 07.04.2021},
  journal={Human genetics},
  doi={10.1007/s004399900113},
}
@article{UBHD-68250312,
  author={Celli, Iacopo and Rappold, Gudrun and Niesler, Beate},
  title={The human serotonin type 3 receptor gene (HTR3A-E) allelic variant database},
  year={2016},
  pages={137-147},
  language={eng},
  issn={1098-1004},
  volume={38},
  number={2},
  note={Gesehen am 08.05.2018},
  journal={Human mutation},
  doi={10.1002/humu.23136},
}
@article{UBHD-68661329,
  author={Child, Christopher J. and Kalifa, Gabriel and Jones, Christine and Ross, Judith L. and Rappold, Gudrun and Quigley, Charmian A. and Zimmermann, Alan G. and Garding, Gina and Jr, Gordon B. Cutler and Blum, Werner F.},
  title={Radiological features in patients with short stature homeobox-containing (SHOX) gene deficiency and turner syndrome before and after 2 years of GH treatment},
  year={2015},
  pages={14-25},
  language={eng},
  issn={1663-2826},
  volume={84},
  number={1},
  note={Gesehen am 16.11.2020},
  journal={Hormone research in paediatrics},
  doi={10.1159/000381712},
}
@article{UBHD-68630860,
  author={Choukair, Daniela and Fredershausen, Birgit and Vick, Philipp and Hermanns, Pia and Weiß, Birgit and Paramasivam, Nagarajan and Schlesner, Matthias and Lornsen, Katharina and R{\"o}th, Ralph and Klutmann, Carina and Kreis, Jennifer and Hoffmann, Georg F. and Pohlenz, Joachim and Rappold, Gudrun and Bettendorf, Markus},
  title={Identification of transient receptor potential channel 4-associated protein as a novel candidate gene causing congenital primary hypothyroidism},
  year={2020},
  pages={16-29},
  language={eng},
  issn={1663-2826},
  volume={93},
  number={1},
  note={Gesehen am 25.08.2020},
  journal={Hormone research in paediatrics},
  doi={10.1159/000507114},
}
@article{UBHD-68716229,
  author={Clement-Jones, Mark and W{\"o}ginger, Simone and Rao, Ercole and Blaschke, R{\"u}diger J{\"o}rg and Zuniga, Aimée and Zeller, Rolf and Robson, Stephen C. and Binder, Gerhard and Glass, Ian and Strachan, Tom and Lindsay, Susan and Rappold, Gudrun},
  title={The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome},
  year={2000},
  pages={695-702},
  language={eng},
  issn={1460-2083},
  volume={9},
  number={5},
  note={Gesehen am 24.03.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/9.5.695},
}
@article{UBHD-68760513,
  author={Cossais, François and Schaeffer, Eva and Heinzel, Sebastian and Zimmermann, Jessica and Niesler, Beate and R{\"o}th, Ralph and Rappold, Gudrun and Scharf, Amelie and Zorenkov, Dmitri and Lange, Christina and Barrenschee, Martina and Margraf, Nils Gerd and Ellrichmann, Mark and Berg, Daniela and B{\"o}ttner, Martina and Wedel, Thilo},
  title={Expression profiling of rectal biopsies suggests altered enteric neuropathological traits in Parkinson’s disease patients},
  year={2021},
  pages={171-176},
  language={eng},
  issn={1877-718X},
  volume={11},
  number={1},
  note={Gesehen am 15.07.2021},
  journal={Journal of Parkinson's Disease},
  doi={10.3233/JPD-202258},
}
@article{UBHD-68699542,
  author={Cristian, Flavia-Bianca and K{\"o}ppel, Alexandra and Janssen, Johannes W. G. and Utikal, Jochen and Rappold, Gudrun and Berkel, Simone},
  title={Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent},
  year={2020},
  pages={5 S.},
  language={eng},
  issn={1876-7753},
  volume={49(2020) Artikel-Nummer 102004},
  number={5 Seiten},
  note={Gesehen am 16.02.2021},
  journal={Stem cell research},
  doi={10.1016/j.scr.2020.102004},
}
@article{UBHD-68718171,
  author={Crollius, Hugues Roest and Rappold, Gudrun},
  title={An integrated YAC map of the human X chromosome},
  year={1996},
  pages={943-955},
  language={eng},
  issn={1549-5469},
  volume={6},
  number={10},
  note={Gesehen am 30.03.2021},
  journal={Genome research},
  doi={10.1101/gr.6.10.943},
}
@article{UBHD-68913298,
  author={Decker, Eva and Durand, Claudia and Bender, Sebastian and R{\"o}delsperger, Christian and Glaser, Anne and Hecht, Jochen and Schneider, Katja U. and Rappold, Gudrun},
  title={FGFR3 is a target of the homeobox transcription factor SHOX in limb development},
  year={2011},
  pages={1524-1535},
  language={eng},
  issn={1460-2083},
  volume={20},
  number={8},
  note={Gesehen am 02.05.2022},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddr030},
}
@article{UBHD-68902067,
  author={Durand, Claudia and R{\"o}th, Ralph and Dweep, Harsh and Vlatkovic, Irena and Decker, Eva and Schneider, Katja U. and Rappold, Gudrun},
  title={Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression},
  year={2011},
  pages={1-8},
  language={eng},
  issn={1932-6203},
  volume={6},
  note={Gesehen am 31.03.2022},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0018115},
}
@article{UBHD-69043276,
  author={Durand, Claudia and Bangs, Fiona and Signolet, Jason and Decker, Eva and Tickle, Cheryll and Rappold, Gudrun},
  title={Enhancer elements upstream of the SHOX gene are active in the developing limb},
  year={2010},
  pages={527-532},
  language={eng},
  issn={1476-5438},
  volume={18},
  number={5},
  note={Published online: 9 December 2009 ; Gesehen am 20.02.2023},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2009.216},
}
@article{UBHD-68676914,
  author={Durand, Claudia and Rappold, Gudrun},
  title={Height matters},
  subtitle={from monogenic disorders to normal variation},
  year={2013},
  pages={171-177},
  language={eng},
  issn={1759-5037},
  volume={9},
  number={3},
  note={Gesehen am 05.01.2021},
  journal={Nature reviews},
  doi={10.1038/nrendo.2012.251},
}
@article{UBHD-68373915,
  author={Durand, Claudia and Decker, Eva and R{\"o}th, Ralph and Schneider, Katja U. and Rappold, Gudrun},
  title={The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures},
  year={2012},
  pages={11 S.},
  language={eng},
  issn={1932-6203},
  volume={7(2012},
  note={Gesehen am 28.03.2019},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0045369},
}
@article{UBHD-68615294,
  author={Ek, Weronica E. and Reznichenko, Anna and Ripke, Stephan and Niesler, Beate and Zucchelli, Marco and Rivera, Natalia V. and Schmidt, Peter T. and Pedersen, Nancy L. and Magnusson, Patrik and Talley, Nicholas J. and Holliday, Elizabeth G. and Houghton, Lesley and Gazouli, Maria and Karamanolis, George and Rappold, Gudrun and Burwinkel, Barbara and Surowy, Harald and Rafter, Joseph and Assadi, Ghazaleh and Li, Ling and Papadaki, Evangelia and Gambaccini, Dario and Marchi, Santino and Colucci, Rocchina and Blandizzi, Corrado and Barbaro, Raffaella and Karling, Pontus and Walter, Susanna and Ohlsson, Bodil and Tornblom, Hans and Bresso, Francesca and Andreasson, Anna and Dlugosz, Aldona and Simren, Magnus and Agreus, Lars and Lindberg, Greger and Boeckxstaens, Guy and Bellini, Massimo and Stanghellini, Vincenzo and Barbara, Giovanni and Daly, Mark J. and Camilleri, Michael and Wouters, Mira M. and D'Amato, Mauro},
  title={Exploring the genetics of irritable bowel syndrome},
  subtitle={a GWA study in the general population and replication in multinational case-control cohorts},
  year={2015},
  pages={1774-1782},
  language={eng},
  issn={1468-3288},
  volume={64},
  number={11},
  note={Published online first: 24 September 2014 ; Gesehen am 09.07.2020},
  journal={Gut},
  doi={10.1136/gutjnl-2014-307997},
}
@article{UBHD-68720679,
  author={Ellison, Jay W. and Tekin, Mustafa and Sikes, Karen and Yankowitz, Jerry and Shapiro, Lawrence A. and Rappold, Gudrun and Neely, Kirk E.},
  title={Molecular characterization of a ring X chromosome in a male with short stature},
  year={2002},
  pages={322-326},
  language={eng},
  issn={1432-1203},
  volume={110},
  number={4},
  note={Gesehen am 07.04.2021},
  journal={Human genetics},
  doi={10.1007/s00439-002-0685-7},
}
@article{UBHD-68337518,
  author={Eltokhi, Ahmed and Rappold, Gudrun and Sprengel, Rolf},
  title={Distinct phenotypes of shank2 mouse models reflect neuropsychiatric spectrum disorders of human patients with SHANK2 variants},
  year={2018},
  pages={15 S.},
  language={eng},
  issn={1662-5099},
  volume={11},
  number={Artikel-ID 240},
  note={Review article ; Gesehen am 07.12.2018},
  journal={Frontiers in molecular neuroscience},
  doi={10.3389/fnmol.2018.00240},
}
@article{UBHD-69092246,
  author={Eltokhi, Ahmed and Gonzalez-Lozano, Miguel A. and Oettl, Lars-Lennart and Rozov, Andrei and Pitzer, Claudia and R{\"o}th, Ralph and Berkel, Simone and H{\"u}ser, Markus and Harten, Aliona and Kelsch, Wolfgang and Smit, August B. and Rappold, Gudrun and Sprengel, Rolf},
  title={Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders},
  year={2021},
  pages={6482-6504},
  language={eng},
  issn={1476-5578},
  volume={26},
  note={Gesehen am 03.07.2023},
  journal={Molecular psychiatry},
  doi={10.1038/s41380-021-01140-y},
  url={https://doi.org/10.1038/s41380-021-01140-y},
  library={UB},
}
@article{UBHD-67204693,
  author={Emons, Joyce and Decker, Eva and Pirzer, Heide and Sticht, Carsten and Gretz, Norbert and Rappold, Gudrun},
  title={Genome-wide screening in human growth plates during puberty in one patient suggests a role for RUNX2 in epiphyseal maturation},
  year={2011},
  pages={245-254},
  language={eng},
  issn={0022-0795},
  volume={209},
  number={2},
  journal={The journal of endocrinology},
}
@article{UBHD-68912538,
  author={Emons, Joyce and Dutilh, Bas E. and Decker, Eva and Pirzer, Heide and Sticht, Carsten and Gretz, Norbert and Rappold, Gudrun and Cameron, Ewan R. and Neil, James C. and Stein, Gary S. and Wijnen, Andre J. van and Wit, Jan Maarten and Post, Janine N. and Karperien, Marcel},
  title={Genome-wide screening in human growth plates during puberty in one patient suggests a role for RUNX2 in epiphyseal maturation},
  year={2011},
  pages={245-254},
  language={eng},
  issn={1479-6805},
  volume={209},
  number={2},
  note={Gesehen am 29.04.2022},
  journal={The journal of endocrinology},
  doi={10.1530/JOE-10-0219},
}
@article{UBHD-69052263,
  author={Endele, Sabine and Rosenberger, Georg and Geider, Kirsten and Popp, Bernt and Tamer, Ceyhun and Stefanova, Irina and Milh, Mathieu and Kort{\"u}m, Fanny and Fritsch, Angela and Pientka, Friederike K. and Hellenbroich, Yorck and Kalscheuer, Vera M. and Kohlhase, J{\"u}rgen and Moog, Ute and Rappold, Gudrun and Rauch, Anita and Ropers, Hans-Hilger and Spiczak, Sarah and T{\"o}nnies, Holger and Villeneuve, Nathalie and Villard, Laurent and Zabel, Bernhard and Zenker, Martin and Laube, Bodo and Reis, André and Wieczorek, Dagmar and Maldergem, Lionel van and Kutsche, Kerstin},
  title={Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes},
  year={2010},
  pages={1021-1026},
  language={eng},
  issn={1061-4036},
  volume={42},
  number={11 vom: Nov.},
  journal={Nature genetics},
}
@article{UBHD-69052481,
  author={Endele, Sabine and Rosenberger, Georg and Geider, Kirsten and Popp, Bernt and Tamer, Ceyhun and Stefanova, Irina and Milh, Mathieu and Kort{\"u}m, Fanny and Fritsch, Angela and Pientka, Friederike K. and Hellenbroich, Yorck and Kalscheuer, Vera M. and Kohlhase, J{\"u}rgen and Moog, Ute and Rappold, Gudrun and Rauch, Anita and Ropers, Hans-Hilger and von Spiczak, Sarah and T{\"o}nnies, Holger and Villeneuve, Nathalie and Villard, Laurent and Zabel, Bernhard and Zenker, Martin and Laube, Bodo and Reis, André and Wieczorek, Dagmar and Van Maldergem, Lionel and Kutsche, Kerstin},
  title={Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes},
  year={2010},
  pages={1021-1026},
  language={eng},
  issn={1546-1718},
  volume={42},
  number={11 vom: Nov.},
  note={Gesehen am 16.03.2023},
  journal={Nature genetics},
  doi={10.1038/ng.677},
}
@article{UBHD-69052495,
  author={Endris, Volker and Hackmann, Karl and Neuhann, Teresa M. and Grasshoff, Ute and Bonin, Michael and Haug, Ulrich and Hahn, Gabriele and Schallner, Jens C. and Schr{\"o}ck, Evelin and Tinschert, Sigrid and Rappold, Gudrun and Moog, Ute},
  title={Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia},
  year={2010},
  pages={2908-2911},
  language={eng},
  issn={1552-4833},
  volume={152A},
  number={11},
  note={Gesehen am 16.03.2023},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.33692},
}
@article{UBHD-68912551,
  author={Endris, Volker and Haussmann, Lydia and Buss, Elena and Bacon, Claire and Bartsch, Dusan and Rappold, Gudrun},
  title={SrGAP3 interacts with lamellipodin at the cell membrane and regulates Rac-dependent cellular protrusions},
  year={2011},
  pages={3941-3955},
  language={eng},
  issn={1477-9137},
  volume={124},
  number={23},
  note={Gesehen am 29.04.2022},
  journal={Journal of cell science},
  doi={10.1242/jcs.077081},
}
@article{UBHD-68639673,
  author={Francelle, Laetitia and Outeiro, Tiago F. and Rappold, Gudrun},
  title={Inhibition of HDAC6 activity protects dopaminergic neurons from alpha-synuclein toxicity},
  year={2020},
  pages={14 S.},
  language={eng},
  issn={2045-2322},
  volume={10(2020) Artikel-Nummer 6064},
  number={14 Seiten},
  note={Gesehen am 23.09.2020},
  journal={Scientific reports},
  doi={10.1038/s41598-020-62678-5},
}
@article{UBHD-68718648,
  author={Francis, Fiona and Benham, Frances and See, Chee Gee and Fox, Margaret and Ishikawa-Brush, Yumiko and Monaco, Anthony P. and Weiß, Birgit and Rappold, Gudrun and Hamvas, Renata M. J. and Lehrach, Hans},
  title={Identification of YAC and cosmid clones encompassing the ZFX-POLA region using irradiation hybrid cell lines},
  year={1994},
  pages={75-83},
  language={eng},
  issn={1089-8646},
  volume={20},
  number={1},
  note={Elektronische Reproduktion der Druck-Ausgabe ; Online 25 May 2002 ; Gesehen am 31.03.2021},
  journal={Genomics},
  doi={10.1006/geno.1994.1129},
}
@article{UBHD-68718175,
  author={Franco, Brunella and Meroni, Germana and Parenti, Giancarlo and Levilliers, Jacqueline and Bernard, Loris and Gebbia, Marinella and Cox, Liza and Maroteaux, Pierre and Sheffield, Leslie and Rappold, Gudrun and Andria, Generoso and Petit, Christine and Ballabio, Andrea},
  title={A cluster of sulfatase genes on Xp22.3},
  subtitle={mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy},
  year={1995},
  pages={15-25},
  language={eng},
  issn={1097-4172},
  volume={81},
  number={1},
  note={Gesehen am 30.03.2021},
  journal={Cell},
  doi={10.1016/0092-8674(95)90367-4},
}
@article{UBHD-68254814,
  author={Fr{\"o}hlich, Henning and Rafiullah, Rafiullah and Abele, Sonja and Rappold, Gudrun},
  title={Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization},
  year={2017},
  pages={1511-1521},
  language={eng},
  issn={1460-2083},
  volume={26},
  number={8},
  note={Gesehen am 25.05.2018},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddx055},
}
@article{UBHD-68452918,
  author={Fr{\"o}hlich, Henning and Kollmeyer, Marie Luise and Stuhlinger, Manuel and Niesler, Beate and Rappold, Gudrun},
  title={Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1+/− mice},
  year={2019},
  pages={22237-22245},
  language={eng},
  issn={1091-6490},
  volume={116},
  number={44},
  note={Gesehen am 11.11.2019},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  doi={10.1073/pnas.1911429116},
}
@article{UBHD-68716899,
  author={Fukami, Maki and Kirsch, Stefan and W{\"o}ginger, Simone and Richter, Alexandra and Benes, Vladimir and Franco, Brunella and Muroya, Koji and Rao, Ercole and Merker, Sabine and Niesler, Beate and Ballabio, Andrea and Ansorge, Wilhelm and Ogata, Tsutomu and Rappold, Gudrun},
  title={A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation},
  year={2000},
  pages={563-573},
  language={eng},
  issn={1537-6605},
  volume={67},
  number={3},
  note={Gesehen am 25.03.2021},
  journal={The American journal of human genetics},
  doi={10.1086/303047},
}
@article{UBHD-68717693,
  author={Geschwind, Daniel H. and Gregg, J. and Boone, K. and Karrim, J. and Pawlikowska‐Haddal, Anna and Rao, Ercole and Ellison, J. and Ciccodicola, Alfredo and D'Urso, Marco and Woods, R. and Rappold, Gudrun and Swerdloff, R. and Nelson, S. F.},
  title={Klinefelter's syndrome as a model of anomalous cerebral laterality},
  subtitle={testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray},
  year={1998},
  pages={215-229},
  language={eng},
  issn={1526-968X},
  volume={23},
  number={3},
  note={Gesehen am 29.03.2021},
  journal={Genesis},
  doi={10.1002/(SICI)1520-6408(1998)23:3<215::AID-DVG7>3.0.CO;2-X},
}
@article{UBHD-68720694,
  author={Gianfrancesco, Fernando and Sanges, Remo and Esposito, Teresa and Tempesta, Sergio and Rao, Ercole and Rappold, Gudrun and Archidiacono, Nicoletta and Graves, Jennifer A. M. and Forabosco, Antonino and D'Urso, Michele},
  title={Differential divergence of three human pseudoautosomal genes and their mouse homologs},
  subtitle={implications for sex chromosome evolution},
  year={2001},
  pages={2095-2100},
  language={eng},
  issn={1549-5469},
  volume={11},
  number={12},
  note={Gesehen am 07.04.2021},
  journal={Genome research},
  doi={10.1101/gr.197001},
}
@article{UBHD-68717661,
  author={Gianfrancesco, Fernando and Esposito, Teresa and Montanini, Luisa and Ciccodicola, Alfredo and Mumm, Steven and Mazzarella, Richard and Rao, Ercole and Giglio, Sabrina and Rappold, Gudrun and Forabosco, Antonino},
  title={A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere},
  year={1998},
  pages={407-414},
  language={eng},
  issn={1460-2083},
  volume={7},
  number={3},
  note={Gesehen am 29.03.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/7.3.407},
}
@article{UBHD-68717742,
  author={Gl{\"a}ser, Birgitta and Grutzner, Frank and Taylor, K. and Schiebel, Katrin and Meroni, G. and Tsioupra, K. and Pasantes, J. and Rietschel, W. and Toder, Roland and Willmann, U. and Zeitler, S. and Yen, P. and Ballabio, A. and Rappold, Gudrun and Schempp, Werner},
  title={Comparative mapping of Xp22 genes in hominoids - evolutionary linear instability of their Y homologues},
  year={1997},
  pages={167-176},
  language={eng},
  issn={1573-6849},
  volume={5},
  number={3},
  note={Gesehen am 29.03.2021},
  journal={Chromosome research},
  doi={10.1023/A:1018490713273},
}
@article{UBHD-68718130,
  author={Gl{\"a}ser, Birgitta and Hierl, Thomas and Taylor, Kay and Schiebel, Katrin and Zeitler, Sylvia and Papadopoullos, Katia and Rappold, Gudrun and Schempp, Werner},
  title={High-resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin},
  year={1997},
  pages={23-30},
  language={eng},
  issn={1573-6849},
  volume={5},
  number={1},
  note={Gesehen am 30.03.2021},
  journal={Chromosome research},
  doi={10.1023/A:1018437301461},
}
@article{UBHD-68720168,
  author={Gl{\"a}ser, Birgitta and Myrtek, Daniel and Rumpler, Yves and Schiebel, Katrin and Hauwy, Marcel and Rappold, Gudrun and Schempp, Werner},
  title={Transposition of SRY into the ancestral pseudoautosomal region creates a new pseudoautosomal boundary in a progenitor of simian primates},
  year={1999},
  pages={2071-2078},
  language={eng},
  issn={1460-2083},
  volume={8},
  number={11},
  note={Gesehen am 06.04.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/8.11.2071},
}
@article{UBHD-67950498,
  author={Glaser, Anne and Hoffmann, Sandra and Gretz, Norbert and Rappold, Gudrun},
  title={Tbx4 interacts with the short stature homeobox gene Shox2 in limb developmentl},
  year={2014},
  pages={629-639},
  language={eng},
  issn={1097-0177},
  volume={243},
  number={5},
  note={Gesehen am: 02.03.2016},
  journal={Developmental dynamics},
  doi={10.1002/dvdy.24104},
}
@article{UBHD-68697909,
  author={Glaser, Anne and Arora, Ripla and Hoffmann, Sandra and Li, Li and Gretz, Norbert and Papaioannou, Virginia E. and Rappold, Gudrun},
  title={Tbx4 interacts with the short stature homeobox gene Shox2 in limb development},
  year={2014},
  pages={629-639},
  language={eng},
  issn={1097-0177},
  volume={243},
  number={5},
  note={Gesehen am 10.02.2020 ; First published: 17 December 2013},
  journal={Developmental dynamics},
  doi={10.1002/dvdy.24104},
}
@article{UBHD-69064197,
  author={Goecke, Tamme W. and Ekici, Arif B. and Niesler, Beate and Loehberg, Christian R. and Hammer, Christian and Rappold, Gudrun and Schanze, Denny and Straub, Verica and Altmann, Hans-Harald and Strissel, Pamela and Strick, Reiner and Beckmann, Matthias W. and Fasching, Peter Andreas},
  title={Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy},
  year={2010},
  pages={7-14},
  language={eng},
  issn={1600-0412},
  volume={89},
  number={1},
  note={Gesehen am 11.04.2023},
  journal={Acta obstetricia et gynecologica Scandinavica},
  doi={10.3109/00016340903322727},
}
@article{UBHD-68716288,
  author={Gohlke, Bernd and Haug, Karsten Georg and Fukami, Maki and Friedl, Waltraut and Noeker, Meinolf and Rappold, Gudrun and Haverkamp, Fritz},
  title={Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy},
  year={2000},
  pages={600-602},
  language={eng},
  issn={1468-6244},
  volume={37},
  number={8},
  note={Gesehen am 24.03.2021},
  journal={Journal of medical genetics},
  doi={10.1136/jmg.37.8.600},
}
@article{UBHD-67543601,
  author={Gool, Sandy A. van and Decker, Eva and Sticht, Carsten and Gretz, Norbert and Rappold, Gudrun},
  title={Fetal mesenchymal stromal cells differentiating towards chondrocytes acquire a gene expression profile resembling human growth plate cartilage},
  subtitle={Zusatztitel},
  year={2012},
  pages={11 S.},
  language={eng},
  issn={1932-6203},
  volume={7(2012},
  note={Gesehen am: 26.02.2014},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0044561},
}
@article{UBHD-68771674,
  author={Gries, Manuela and Christmann, Anne and Schulte, Steven and Weyland, Maximilian and Rommel, Stephanie and Martin, Monika and Baller, Marko and R{\"o}th, Ralph and Schmitteckert, Stefanie and Unger, Marcus and Liu, Yang and Sommer, Frederik and M{\"u}hlhaus, Timo and Schroda, Michael and Timmermans, Jean-Pierre and Pintelon, Isabel and Rappold, Gudrun and Britschgi, Markus and Lashuel, Hilal and Menger, Michael D. and Laschke, Matthias W. and Niesler, Beate and Sch{\"a}fer, Karl Herbert},
  title={Parkinson mice show functional and molecular changes in the gut long before motoric disease onset},
  year={2021},
  pages={1-23},
  language={eng},
  issn={1750-1326},
  volume={16},
  number={Artikel-ID 34},
  note={Gesehen am 18.08.2021},
  journal={Molecular neurodegeneration},
  doi={10.1186/s13024-021-00439-2},
}
@article{UBHD-68717668,
  author={Gr{\"u}ndemann, Dirk and Wogatzky, Birgit and Rappold, Gudrun and Sch{\"o}mig, Edgar},
  title={Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter},
  year={1998},
  pages={349-351},
  language={eng},
  issn={1546-1726},
  volume={1},
  number={5},
  note={Gesehen am 29.03.2021},
  journal={Nature neuroscience},
  doi={10.1038/1557},
}
@article{UBHD-67810985,
  author={Hammer, Christian and Rietschel, Marcella and Rappold, Gudrun and Niesler, Beate},
  title={A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders},
  year={2014},
  pages={764-768},
  language={eng},
  issn={1399-5618},
  volume={16},
  number={7},
  note={Gesehen am: 29.04.2015},
  journal={Bipolar disorders},
  doi={10.1111/bdi.12207},
}
@article{UBHD-68243172,
  author={Hammer, Christian and R{\"o}th, Ralph and Rappold, Gudrun and Rietschel, Marcella and Niesler, Beate},
  title={Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder},
  subtitle={a European multicenter study},
  year={2012},
  pages={8 S.},
  language={eng},
  issn={2158-3188},
  volume={2(2012},
  note={Gesehen am 16.04.2018},
  journal={Translational Psychiatry},
  doi={10.1038/tp.2012.30},
}
@article{UBHD-68718186,
  author={Henke, Anja and Fischer, Christine and Rappold, Gudrun},
  title={Genetic map of the human pseudoautosomal region reveals a high rate of recombination in female meiosis at the Xp telomere},
  year={1993},
  pages={478-485},
  language={eng},
  issn={1089-8646},
  volume={18},
  number={3},
  note={Online 3 June 2011 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 30.03.2021},
  journal={Genomics},
  doi={10.1016/S0888-7543(11)80003-0},
}
@article{UBHD-68720129,
  author={Henke, Anja and Rappold, Gudrun},
  title={PA2.1 detects a VNTR locus in the pseudoautosomal region},
  year={1993},
  pages={339-339},
  language={eng},
  issn={1460-2083},
  volume={2},
  number={3},
  note={Gesehen am 06.04.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/2.3.339-a},
}
@article{UBHD-68720149,
  author={Henke, Anja and Wapenaar, Martin C. and Ommen, Gert- Jan and Maraschio, Paola and Camerino, Giovanni and Rappold, Gudrun},
  title={Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth},
  year={1991},
  pages={811-819},
  language={eng},
  issn={1537-6605},
  volume={49},
  number={4},
  note={Gesehen am 06.04.2021},
  journal={The American journal of human genetics},
}
@article{UBHD-68720162,
  author={Hess, Markus M. and Goldammer, Tom and Gelhaus, A. and Ried, Karin and Rappold, Gudrun and Eggen, A. and Bishop, M. D. and Schwerin, M. and Horstmann, Rolf Dieter},
  title={Physical assignment of the bovine MHC class IIa and class IIb genes},
  year={1999},
  pages={244-247},
  language={eng},
  issn={1421-9816},
  volume={85},
  number={3/4},
  note={Gesehen am 06.04.2021},
  journal={Cytogenetics and cell genetics},
  doi={10.1159/000015302},
}
@article{UBHD-68492126,
  author={Hoffmann, Sandra and Clauss, Sebastian and Berger, Ina Maria and Weiß, Birgit and Montalbano, Antonino and R{\"o}th, Ralph and Bucher, Madeline and Klier, Ina and Wakili, Reza and Seitz, Hervé and Schulze-Bahr, Eric and Katus, Hugo and Flachsbart, Friederike and Nebel, Almut and Guenther, Sabina PW. and Bagaev, Erik and Rottbauer, Wolfgang and K{\"a}{\"a}b, Stefan and Just, Steffen and Rappold, Gudrun},
  title={Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation},
  year={2016},
  language={eng},
  issn={1435-1803},
  volume={111(2016) Artikel-Nummer 36},
  number={15 Seiten},
  note={Gesehen am 21.02.2020},
  journal={Basic research in cardiology},
  doi={10.1007/s00395-016-0557-2},
}
@article{UBHD-68274788,
  author={Hoffmann, Sandra and Schmitteckert, Stefanie and Griesbeck, Anne and Preiss, Hannes and Sumer, Simon and Granzow, Martin and Eckstein, Volker and Niesler, Beate and Rappold, Gudrun},
  title={Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells},
  year={2017},
  pages={51-57},
  language={eng},
  issn={1876-7753},
  volume={21},
  note={Available online 29 March 2017 ; Gesehen am 27.06.2018},
  journal={Stem cell research},
  doi={10.1016/j.scr.2017.03.018},
}
@article{UBHD-68425310,
  author={Hoffmann, Sandra and Paone, Christoph and Sumer, Simon and Diebold, Sabrina and Weiß, Birgit and Roeth, Ralph and Clauss, Sebastian and Klier, Ina and K{\"a}{\"a}b, Stefan and Schulz, Andreas and Wild, Philipp S. and Ghrib, Adil and Zeller, Tanja and Schnabel, Renate and Just, Steffen and Rappold, Gudrun},
  title={Functional characterization of rare variants in the SHOX2 gene identified in sinus node dysfunction and atrial fibrillation},
  year={2019},
  pages={7 S.},
  language={eng},
  issn={1664-8021},
  volume={10(2019) Artikel-Nummer 648},
  number={7 Seiten},
  note={Gesehen am 29.08.2019},
  journal={Frontiers in genetics},
  doi={10.3389/fgene.2019.00648},
  url={https://doi.org/10.3389/fgene.2019.00648},
  library={UB},
}
@article{UBHD-68757688,
  author={Hoffmann, Sandra and R{\"o}th, Ralph and Hassel, David and Rappold, Gudrun},
  title={Identification and tissue-specific characterization of novel SHOX-regulated genes in zebrafish highlights SOX family members among other genes},
  year={2021},
  pages={1-11},
  language={eng},
  issn={1664-8021},
  volume={12(2021) vom: 27. Mai},
  number={Artikel-ID 688806},
  note={Gesehen am 08.07.2021},
  journal={Frontiers in genetics},
  doi={10.3389/fgene.2021.688808},
  url={https://doi.org/10.3389/fgene.2021.688808},
  library={UB},
}
@article{UBHD-67506703,
  author={Hoffmann, Sandra and Glaser, Anne and Bacon, Claire and Li, Li and Gretz, Norbert and Steinbeisser, Herbert and Rappold, Gudrun},
  title={Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia},
  year={2013},
  pages={339},
  language={eng},
  issn={1435-1803},
  volume={108},
  number={2},
  note={Gesehen am: 04.12.2013},
  journal={Basic research in cardiology},
  doi={10.1007/s00395-013-0339-z},
}
@article{UBHD-68746974,
  author={Hoffmann, Sandra and Schmitteckert, Stefanie and R{\"a}decke, Kristin and Rheinert, David and Diebold, Sabrina and R{\"o}th, Ralph and Weiß, Birgit and Granzow, Martin and Niesler, Beate and Griesbeck, Anne and Eckstein, Volker and Zimmermann, Wolfram-Hubertus and Just, Steffen and Rappold, Gudrun},
  title={Network-driven discovery yields new insight into Shox2-dependent cardiac rhythm control},
  year={2021},
  pages={1-10},
  language={eng},
  issn={1876-4320},
  volume={1864},
  note={Gesehen am 10.06.2021},
  journal={Biochimica et biophysica acta},
  doi={10.1016/j.bbagrm.2021.194702},
}
@book{UBHD-69105904,
  author={Hoffmann, Sandra and Rappold, Gudrun},
  organization={Universit{\"a}t Heidelberg / Medizinische Fakult{\"a}t and Universit{\"a}t Heidelberg / Abteilung Molekulare Humangenetik},
  title={S{\"a}ule B: Patient-specific induced pluripotent stem cells as a model for atrial fibrillation},
  subtitle={Abschlussbericht : Laufzeit des Projektes: 01.06.2014-31.12.2015},
  publisher={[Ruprecht-Karls-Universit{\"a}t Heidelberg/Medizinische Fakult{\"a}t Heidelberg]},
  address={Heidelberg},
  year={2016},
  pages={9 Bl{\"a}tter, 1 ungez{\"a}hltes Blatt},
  language={ger},
  note={F{\"o}rderkennzeichen BMBF 81X2500113 ; Projektleiterinnen sind laut Berichtsblatt Autorinnen des Berichts ; Durchf{\"u}hrende Institution dem Berichtsblatt entnommen ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource k{\"o}nnen nicht ausgeschlossen werden},
  keywords={Vorhofflimmern / Transkriptionsfaktor / Induzierte pluripotente Stammzelle},
}
@book{UBHD-69105906,
  author={Hoffmann, Sandra and Rappold, Gudrun},
  organization={Universit{\"a}t Heidelberg / Medizinische Fakult{\"a}t and Universit{\"a}t Heidelberg / Abteilung Molekulare Humangenetik},
  title={S{\"a}ule B: Patient-specific induced pluripotent stem cells as a model for atrial fibrillation},
  subtitle={Abschlussbericht : Laufzeit des Projektes: 01.06.2014-31.12.2015},
  publisher={[Ruprecht-Karls-Universit{\"a}t Heidelberg/Medizinische Fakult{\"a}t Heidelberg]},
  address={Heidelberg},
  year={2016},
  pages={1 Online-Ressource (10 Seiten, 702,80 KB)},
  language={ger},
  note={F{\"o}rderkennzeichen BMBF 81X2500113 ; Projektleiterinnen sind laut Berichtsblatt Autorinnen des Berichts ; Durchf{\"u}hrende Institution dem Berichtsblatt entnommen ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource k{\"o}nnen nicht ausgeschlossen werden},
  doi={10.2314/GBV:893512354},
  keywords={Vorhofflimmern / Transkriptionsfaktor / Induzierte pluripotente Stammzelle},
}
@article{UBHD-69066054,
  author={Horn, Denise and Kapeller, Johannes and Rivera-Brugués, Núria and Moog, Ute and Lorenz-Depiereux, Bettina and Eck, Sebastian and Hempel, Maja and Wagenstaller, Janine and Gawthrope, Alex and Monaco, Anthony P. and Bonin, Michael and Riess, Olaf and Wohlleber, Eva and Illig, Thomas and Bezzina, Connie R. and Franke, Andre and Spranger, Stephanie and Villavicencio-Lorini, Pablo and Seifert, Wenke and Rosenfeld, Jochen and Klopocki, Eva and Rappold, Gudrun and Strom, Tim M.},
  title={Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits},
  year={2010},
  pages={E1851-E1860},
  language={eng},
  issn={1098-1004},
  volume={31},
  number={11 vom: Nov.},
  note={Published: 16 September 2010 ; Gesehen am 17.04.2023},
  journal={Human mutation},
  doi={10.1002/humu.21362},
}
@article{UBHD-68302800,
  author={Hoyer, Juliane and Rappold, Gudrun},
  title={Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability},
  year={2012},
  pages={565-572},
  language={eng},
  issn={1537-6605},
  volume={90},
  number={3},
  note={Gesehen am 06.09.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2012.02.007},
}
@article{UBHD-67832757,
  author={Hristov, Georgi and Durand, Claudia and Niesler, Beate and Rappold, Gudrun},
  title={SHOX triggers the lysosomal pathway of apoptosis via oxidative stress},
  year={2014},
  pages={1619-1630},
  language={eng},
  issn={1460-2083},
  volume={23},
  number={6},
  note={Gesehen am 18.06.2015},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddt552},
}
@article{UBHD-68717673,
  author={Jobling, Mark A. and Williams, G. and Schiebel, Katrin and Pandya, A. and McElreavey, Ken and Salas, L. and Rappold, Gudrun and Affara, N. A. and Tyler-Smith, Chris},
  title={A selective difference between human Y-chromosomal DNA haplotypes},
  year={1998},
  pages={1391-1394},
  language={eng},
  issn={1879-0445},
  volume={8},
  number={25},
  note={Gesehen am 29.03.2021},
  journal={Current biology},
  doi={10.1016/S0960-9822(98)00020-7},
}
@article{UBHD-68939950,
  author={Kant, Saartje Gijsbertje and van der Kamp, Hetty J. and Kriek, Marjolein and Bakker, Egbert and Bakker, Boudewijn and Hoffer, Mariette J. V. and van Bunderen, Patrick and Losekoot, Monique and Maas, Saskia M. and Wit, Jan M. and Rappold, Gudrun and Breuning, Martijn H.},
  title={The jumping SHOX gene-crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis},
  year={2011},
  pages={E356-E359},
  language={eng},
  issn={1945-7197},
  volume={96},
  number={2},
  note={First published online November 10, 2010 ; Gesehen am 11.07.2022},
  journal={The journal of clinical endocrinology & metabolism},
  doi={10.1210/jc.2010-1505},
}
@article{UBHD-68939963,
  author={Kapeller, Johannes and M{\"o}ller, Dorothee and Lasitschka, Felix and Autschbach, Frank and Hovius, Ruud and Rappold, Gudrun and Br{\"u}ss, Michael and Gershon, Michael D. and Niesler, Beate},
  title={Serotonin receptor diversity in the human colon},
  subtitle={expression of serotonin type 3 receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E},
  year={2011},
  pages={420-432},
  language={eng},
  issn={1096-9861},
  volume={519},
  number={3},
  note={Published online October 19, 2010 ; Gesehen am 11.07.2022},
  journal={The journal of comparative neurology},
  doi={10.1002/cne.22525},
}
@article{UBHD-68674499,
  author={Khan, Amjad and Miao, Zhichao and Umair, Muhammad and Ullah, Amir and Alshabeeb, Mohammad A. and Bilal, Muhammad and Ahmad, Farooq and Rappold, Gudrun and Ansar, Muhammad and Carapito, Raphael},
  title={Two cases of recessive intellectual disability caused by NDST1 and METTL23 variants},
  year={2020},
  pages={10 S.},
  language={eng},
  issn={2073-4425},
  volume={11(2020},
  note={Gesehen am 17.12.2020},
  journal={Genes},
  doi={10.3390/genes11091021},
}
@article{UBHD-68716357,
  author={Kirsch, Stefan and Weiß, Birgit and Rosa, M. De and Ogata, T. and Lombardi, G. and Rappold, Gudrun},
  title={FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY},
  year={2000},
  pages={593-599},
  language={eng},
  issn={1468-6244},
  volume={37},
  number={8},
  note={Gesehen am 24.03.2021},
  journal={Journal of medical genetics},
  doi={10.1136/jmg.37.8.593},
}
@article{UBHD-68718154,
  author={Klein, Shoshana and Zenvirth, Drora and Sherman, Amir and Ried, Karin and Rappold, Gudrun and Simchen, Giora},
  title={Double-strand breaks on YACs during yeast meiosis may reflect meiotic recombination in the human genome},
  year={1996},
  pages={481-484},
  language={eng},
  issn={1546-1718},
  volume={13},
  number={4},
  note={Gesehen am 30.03.2021},
  journal={Nature genetics},
  doi={10.1038/ng0896-481},
}
@article{UBHD-68720126,
  author={Klink, Albrecht and Wapenaar, Martin C. and Ommen, G.J.B. van and Rappold, Gudrun},
  title={AK1 detects a VNTR locus in the pseudoautosomal region},
  year={1993},
  pages={339-339},
  language={eng},
  issn={1460-2083},
  volume={2},
  number={3},
  note={Gesehen am 06.04.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/2.3.339-a},
}
@article{UBHD-68718666,
  author={Klink, Albrecht and Schiebel, Katrin and Winkelmann, Martina and Rao, Ercole and Horsthemke, Bernhard and L{\"u}decke, Hermann-Josef and Claussen, Uwe and Scherer, Gerd and Rappold, Gudrun},
  title={The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability},
  year={1995},
  pages={869-878},
  language={eng},
  issn={1460-2083},
  volume={4},
  number={5},
  note={Gesehen am 31.03.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/4.5.869},
}
@article{UBHD-68718652,
  author={Klink, Albrecht and Meindl, Alfons and Hellebrand, Heide and Rappold, Gudrun},
  title={A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval},
  year={1994},
  pages={463-466},
  language={eng},
  issn={1432-1203},
  volume={93},
  number={4},
  note={Gesehen am 31.03.2021},
  journal={Human genetics},
  doi={10.1007/BF00201677},
}
@article{UBHD-68634730,
  author={Leblond, Claire S. and Rappold, Gudrun},
  title={Meta-analysis of SHANK mutations in autism spectrum disorders},
  subtitle={a gradient of severity in cognitive impairments},
  year={2014},
  pages={15 S.},
  language={eng},
  issn={1553-7404},
  volume={10(2014},
  note={Gesehen am 04.09.2020},
  journal={PLoS Genetics},
  doi={10.1371/journal.pgen.1004580},
}
@article{UBHD-68287853,
  author={Leijten, Jeroen and Sticht, Carsten and Decker, Eva and Rappold, Gudrun},
  title={Gremlin 1, Frizzled‐related protein, and Dkk‐1 are key regulators of human articular cartilage homeostasis},
  year={2012},
  pages={3302-3312},
  language={eng},
  issn={1529-0131},
  volume={64},
  number={10},
  note={Gesehen am 23.07.2018},
  journal={Arthritis & rheumatism},
  doi={10.1002/art.34535},
}
@article{UBHD-68717703,
  author={Lien, Sigbjørn and Szyda, Joanna and Wogatzky, Birgit and Rappold, Gudrun and Arnheim, Norm},
  title={Evidence for heterogeneity in recombination in the human pseudoautosomal region},
  subtitle={high resolution analysis by sperm typing and radiation-hybrid mapping},
  year={2000},
  pages={557-566},
  language={eng},
  issn={1537-6605},
  volume={66},
  number={2},
  note={Elektronische Reproduktion der Druck-Ausgabe ; Online 9 January 2008 ; Gesehen am 29.03.2021},
  journal={The American journal of human genetics},
  doi={10.1086/302754},
}
@article{UBHD-68800819,
  author={Lipphardt, Veronika and Rappold, Gudrun and Surdu, Mihai},
  title={Protect minorities in genetic research},
  subtitle={letter},
  year={2021},
  pages={1452},
  language={eng},
  issn={1095-9203},
  volume={373},
  number={6562},
  note={Gesehen am 12.11.2021},
  journal={Science},
  doi={10.1126/science.abm2270},
}
@article{UBHD-68589493,
  author={Li, Xue and Xiao, Jian and Fr{\"o}hlich, Henning and Tu, Xiaomeng and Li, Lianlian and Xu, Yue and Cao, Huateng and Qu, Jia and Rappold, Gudrun and Chen, Jie-Guang},
  title={Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex},
  year={2015},
  language={eng},
  issn={1932-6203},
  volume={10(2015},
  note={Gesehen am 22.06.2020},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0127671},
}
@article{UBHD-68326399,
  author={Marchini, Antonio and Ogata, Tsutomu and Rappold, Gudrun},
  title={A track record on SHOX},
  subtitle={from basic research to complex models and therapy},
  year={2016},
  pages={417-448},
  language={eng},
  issn={1945-7189},
  volume={37},
  number={4},
  note={Gesehen am 08.11.2018},
  journal={Endocrine reviews},
  doi={10.1210/er.2016-1036},
}
@article{UBHD-68770958,
  author={Martinez, Cristina and Lasitschka, Felix and Th{\"o}ni, Cornelia and Wohlfarth, Carolin and Braun, Alexander and Granzow, Martin and R{\"o}th, Ralph and Dizdar, Vernesa and Rappold, Gudrun and Hausken, Trygve and Langeland, Nina and Hanevik, Kurt and Niesler, Beate},
  title={Comparative expression profiling in the intestine of patients with Giardia-induced postinfectious functional gastrointestinal disorders},
  year={2020},
  pages={1-13},
  language={eng},
  issn={1365-2982},
  volume={32},
  note={Gesehen am 16.08.2021},
  journal={Neurogastroenterology and motility},
  doi={10.1111/nmo.13868},
  url={https://doi.org/10.1111/nmo.13868},
  library={UB},
}
@article{UBHD-68265305,
  author={Martinez, Cristina and Stanifer, Megan and Granzow, Martin and R{\"o}th, Ralph and Rappold, Gudrun and Huber, Wolfgang and González Silos, Rosa and Lorenzo Bermejo, Justo and Boulant, Steeve and Niesler, Beate},
  title={miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea},
  year={2017},
  pages={1537-1538},
  language={eng},
  issn={1468-3288},
  volume={66},
  number={9},
  note={Published online first 12 January 2017 ; Gesehen am 26.06.2018},
  journal={Gut},
  doi={10.1136/gutjnl-2016-311477},
}
@article{UBHD-68677315,
  author={Mederer, Tanja and Schmitteckert, Stefanie and Volz, Julia and Martinez, Cristina and R{\"o}th, Ralph and Thumberger, Thomas and Eckstein, Volker and Scheuerer, Jutta and Th{\"o}ni, Cornelia and Lasitschka, Felix and Carstensen, Leonie and G{\"u}nther, Patrick and Holland-Cunz, Stefan and Hofstraat, Robert G. and Brosens, Erwin and Rosenfeld, Jill A. and Schaaf, Christian P. and Schriemer, Duco and Ceccherini, Isabella and Rusmini, Marta and Tilghman, Joseph and Luzón-Toro, Berta and Torroglosa, Ana and Borrego, Salud and Tang, Clara Sze-man and Garcia-Barceló, Mercè and Tam, Paul and Paramasivam, Nagarajan and Bewerunge-Hudler, Melanie and Torre, Carolina de la and Gretz, Norbert and Rappold, Gudrun and Romero, Philipp and Niesler, Beate},
  title={A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease},
  year={2020},
  pages={e1009106},
  language={eng},
  issn={1553-7404},
  volume={16},
  number={11},
  note={Gesehen am 07.01.2021},
  journal={PLoS Genetics},
  doi={10.1371/journal.pgen.1009106},
}
@article{UBHD-68565177,
  author={Montalbano, Antonino and J{\"u}rgensen, Lonny and R{\"o}th, Ralph and Weiß, Birgit and Hassel, David and Rappold, Gudrun},
  title={Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature},
  year={2018},
  pages={1113-1120},
  language={eng},
  issn={1476-5438},
  volume={26},
  number={8},
  note={Gesehen am 16.04.2020},
  journal={European journal of human genetics},
  doi={10.1038/s41431-018-0148-9},
}
@article{UBHD-68184078,
  author={Montalbano, Antonino and J{\"u}rgensen, Lonny and R{\"o}th, Ralph and Weiß, Birgit and Hassel, David and Rappold, Gudrun},
  title={Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency},
  year={2016},
  pages={1455-1469},
  language={eng},
  issn={1757-4684},
  volume={8},
  number={12},
  note={Gesehen am 26.10.2017},
  journal={EMBO molecular medicine},
  doi={10.15252/emmm.201606623},
}
@article{UBHD-68961437,
  author={Moog, Ute and Kutsche, Kerstin and Kort{\"u}m, Fanny and Kutsche, Kerstin and Kort{\"u}m, Fanny and Chilian, Bettina and Bierhals, Tatjana and Apeshiotis, Neophytos and Balg, Stefanie and Chassaing, Nicolas and Coubes, Christine and Das, Soma and Engels, Hartmut and Esch, Hilde Van and Grasshoff, Ute and Heise, Marisol and Isidor, Bertrand and Jarvis, Joanna and Koehler, Udo and Martin, Thomas and Oehl-Jaschkowitz, Barbara and Ortibus, Els and Pilz, Daniela T. and Prabhakar, Prab and Rappold, Gudrun and Rau, Isabella and Rettenberger, G{\"u}nther and Schl{\"u}ter, Gregor and Scott, Richard H. and Shoukier, Moonef and Wohlleber, Eva and Zirn, Birgit and Dobyns, William B. and Uyanik, G{\"o}khan},
  title={Phenotypic spectrum associated with CASK loss-of-function mutations},
  year={2011},
  pages={741-751},
  language={eng},
  issn={0022-2593},
  volume={48},
  number={11 vom: Nov.},
  note={Gesehen am 07.09.2022},
  journal={Journal of medical genetics},
}
@article{UBHD-68961674,
  author={Moog, Ute and Kutsche, Kerstin and Kort{\"u}m, Fanny and Kutsche, Kerstin and Kort{\"u}m, Fanny and Chilian, Bettina and Bierhals, Tatjana and Apeshiotis, Neophytos and Balg, Stefanie and Chassaing, Nicolas and Coubes, Christine and Das, Soma and Engels, Hartmut and Esch, Hilde Van and Grasshoff, Ute and Heise, Marisol and Isidor, Bertrand and Jarvis, Joanna and Koehler, Udo and Martin, Thomas and Oehl-Jaschkowitz, Barbara and Ortibus, Els and Pilz, Daniela T. and Prabhakar, Prab and Rappold, Gudrun and Rau, Isabella and Rettenberger, G{\"u}nther and Schl{\"u}ter, Gregor and Scott, Richard H. and Shoukier, Moonef and Wohlleber, Eva and Zirn, Birgit and Dobyns, William B. and Uyanik, G{\"o}khan},
  title={Phenotypic spectrum associated with CASK loss-of-function mutations},
  year={2011},
  pages={741-751},
  language={eng},
  issn={1468-6244},
  volume={48},
  number={11 vom: Nov.},
  note={Gesehen am 07.09.2022},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2011-100218},
}
@article{UBHD-68718169,
  author={Muroya, Koji and Ogata, Tsutomu and Matsuo, Nobutake and Nagai, Toshiro and Franco, Brunella and Ballabio, Andrea and Rappold, Gudrun and Sakura, Nobiro and Fukushima, Yoshimitsu},
  title={Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1},
  subtitle={Implication for the MRX locus},
  year={1996},
  pages={583-587},
  language={eng},
  issn={1096-8628},
  volume={64},
  number={4},
  note={Gesehen am 30.03.2021},
  journal={American journal of medical genetics},
  doi={10.1002/(SICI)1096-8628(19960906)64:4<583::AID-AJMG11>3.0.CO;2-D},
}
@article{UBHD-68718182,
  author={Muroya, Koji and Ogata, Tsutomu and Rappold, Gudrun and Klink, Albrecht and Nakahori, Yutaka and Fukushima, Yoshimitsu and Aizu, Katsuya and Matsuo, Nobutake},
  title={Refinement of the locus for X-linked recessive chondrodysplasia punctata},
  year={1995},
  pages={577-580},
  language={eng},
  issn={1432-1203},
  volume={95},
  number={5},
  note={Gesehen am 30.03.2021},
  journal={Human genetics},
  doi={10.1007/BF00223874},
}
@article{UBHD-68720700,
  author={Niesler, Beate and Flohr, Thomas and N{\"o}then, Markus Maria and Fischer, Christine and Rietschel, Marcella and Franzek, Ernst and Albus, Margot and Propping, Peter and Rappold, Gudrun},
  title={Association between the 5′ UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder},
  year={2001},
  pages={471-475},
  language={eng},
  issn={1744-6880},
  volume={11},
  number={6},
  note={Gesehen am 07.04.2021},
  journal={Pharmacogenetics and genomics},
  doi={10.1097/00008571-200108000-00002},
}
@article{UBHD-68770189,
  author={Niesler, Beate and Rappold, Gudrun},
  title={Emerging evidence for gene mutations driving both brain and gut dysfunction in autism spectrum disorder},
  year={2021},
  pages={1442-1444},
  language={eng},
  issn={1476-5578},
  volume={26},
  number={5},
  note={Published: 27 May 2020 ; Gesehen am 12.08.2021},
  journal={Molecular psychiatry},
  doi={10.1038/s41380-020-0778-5},
  url={https://doi.org/10.1038/s41380-020-0778-5},
  library={UB},
}
@article{UBHD-68716266,
  author={Niesler, Beate and Weiß, Birgit and Fischer, Christine and N{\"o}then, Markus Maria and Propping, Peter and Bondy, Brigitta and Rietschel, Marcella and Maier, Wolfgang and Albus, Margot and Franzek, Ernst and Rappold, Gudrun},
  title={Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients},
  year={2001},
  pages={21-27},
  language={eng},
  issn={1744-6880},
  volume={11},
  number={1},
  note={Gesehen am 24.03.2021},
  journal={Pharmacogenetics and genomics},
  doi={10.1097/00008571-200102000-00003},
}
@article{UBHD-68720134,
  author={N{\"o}then, Markus Maria and Cichon, Sven and Erdmann, Jeanette and K{\"o}rner, Judith and Rietschel, Marcella and Rappold, Gudrun and Fritze, J{\"u}rgen and Propping, Peter},
  title={Pseudoautosomal marker DXYS20 and manic depression},
  year={1993},
  pages={841-842},
  language={eng},
  issn={1537-6605},
  volume={52},
  number={4},
  note={Gesehen am 06.04.2021},
  journal={The American journal of human genetics},
}
@article{UBHD-68718679,
  author={Ogata, Tsutomu and Petit, Christine and Rappold, Gudrun and Matsuo, Nobutake and Matsumoto, Takahiko and Goodfellow, Peter},
  title={Chromosomal localisation of a pseudoautosomal growth gene(s).},
  year={1992},
  pages={624-628},
  language={eng},
  issn={1468-6244},
  volume={29},
  number={9},
  note={Gesehen am 31.03.2021},
  journal={Journal of medical genetics},
  doi={10.1136/jmg.29.9.624},
}
@article{UBHD-68718180,
  author={Ogata, Tsutomu and Yoshizawa, Atsuko and Muroya, Koji and Matsuo, Nobutake and Fukushima, Yoshimitsu and Rappold, Gudrun and Yokoya, Susumu},
  title={Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15},
  subtitle={further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)},
  year={1995},
  pages={831-834},
  language={eng},
  issn={1468-6244},
  volume={32},
  number={10},
  note={Gesehen am 30.03.2021},
  journal={Journal of medical genetics},
  doi={10.1136/jmg.32.10.831},
}
@article{UBHD-68716307,
  author={Ogata, Tsutomu and Wakui, Keiko and Kosho, Tomoki and Muroya, Koji and Yamanouchi, Yasuko and Takano, Takako and Fukushima, Yoshimitsu and Rappold, Gudrun and Suzuki, Yoshimi},
  title={Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation},
  year={2000},
  pages={256-259},
  language={eng},
  issn={1096-8628},
  volume={92},
  number={4},
  note={Gesehen am 24.03.2021},
  journal={American journal of medical genetics},
  doi={10.1002/(SICI)1096-8628(20000605)92:4<256::AID-AJMG6>3.0.CO;2-#},
}
@article{UBHD-68716886,
  author={Oner, Guner and Jauch, Anna and Eggermann, Thomas and Hardwick, R. and Kirsch, Stefan and Schiebel, Katrin and Rappold, Gudrun and Robson, Lisa and Smith, Arabella},
  title={Mosaic rearrangement of chromosome 18},
  subtitle={Characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin},
  year={2000},
  pages={101-106},
  language={eng},
  issn={1552-4833},
  volume={92},
  number={2},
  note={Gesehen am 25.03.2021},
  journal={American journal of medical genetics},
  doi={10.1002/(SICI)1096-8628(20000515)92:2<101::AID-AJMG4>3.0.CO;2-U},
}
@article{UBHD-68716921,
  author={Palka, Giandomenico and Stuppia, Liborio and Franchi, P. Guanciali and Chiarelli, F. and Fischetto, R. and Borrelli, P. and Giannotti, A. and Fioretti, G. and Rinaldi, Mm and Mingarelli, R. and Rappold, Gudrun and Calabrese, G.},
  title={Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis},
  year={2000},
  pages={449-453},
  language={eng},
  issn={1399-0004},
  volume={57},
  number={6},
  note={Elektronische Reproduktion der Druck-Ausgabe ; First published: 24 December 2001 ; Gesehen am 25.03.2021},
  journal={Clinical genetics},
  doi={10.1034/j.1399-0004.2000.570609.x},
}
@article{UBHD-67753852,
  author={Peykov, Slavil and Berkel, Simone and Weiß, Birgit and Rietschel, Marcella and Rappold, Gudrun},
  title={Identification and functional characterization of rare SHANK2 variants in schizophrenia},
  year={2015},
  pages={1489-1498},
  language={eng},
  issn={1476-5578},
  volume={20},
  note={Gesehen am 12.01.2015},
  journal={Molecular psychiatry},
  doi={10.1038/mp.2014.172},
}
@article{UBHD-68180983,
  author={Peykov, Slavil and Berkel, Simone and Rietschel, Marcella and Rappold, Gudrun},
  title={Rare SHANK2 variants in schizophrenia},
  year={2015},
  pages={1487-1488},
  language={eng},
  issn={1476-5578},
  volume={20},
  number={12},
  note={Gesehen am 19.10.2017},
  journal={Molecular psychiatry},
  doi={10.1038/mp.2015.122},
}
@article{UBHD-68720663,
  author={Pl{\"o}chl, Engelbert and Vlasak, I. and Rittinger, O. and Bergendi, E. and Stopar, M. and Kurnik, P. and Nachtigall-Papadopoulos, Nikolaos and Zierler, H. and Rappold, Gudrun and Schiebel, Katrin},
  title={Clinical, cytogenetic and molecular analysis of three 46,XX males},
  year={1999},
  pages={389-396},
  language={eng},
  issn={2191-0251},
  volume={12},
  number={3},
  note={Gesehen am 07.04.2021},
  journal={The journal of pediatric endocrinology and metabolism},
  doi={10.1515/JPEM.1999.12.3.389},
}
@article{UBHD-68720144,
  author={Pohlschmidt, Manfred and Rappold, Gudrun and Krause, M. and Ahlert, Dorothee and Hosenfeld, Detlev Joachim and Weissenbach, Jean and Gal, Andreas},
  title={Ring Y chromosome},
  subtitle={molecular characterization by DNA probes},
  year={1991},
  pages={65-68},
  language={eng},
  issn={1421-9816},
  volume={56},
  number={2},
  note={Elektronische Reproduktion der Druck-Ausgabe ; Published online: May 13, 2008 ; Gesehen am 06.04.2021},
  journal={Cytogenetics and cell genetics},
  doi={10.1159/000133051},
}
@article{UBHD-69073061,
  author={Puskaric, Sandra and Schmitteckert, Stefanie and Mori, Alessandro D. and Glaser, Anne and Schneider, Katja U. and Bruneau, Benoit G. and Blaschke, R{\"u}diger J. and Steinbeisser, Herbert and Rappold, Gudrun},
  title={Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart},
  year={2010},
  pages={4625-4633},
  language={eng},
  issn={1460-2083},
  volume={19},
  number={23 vom: Sept.},
  note={Gesehen am 08.05.2023},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddq393},
}
@article{UBHD-69084734,
  author={R{\"a}decke, Kristin and Gore, Ambuj and Burau, Karin and Laugsch, Magdalena and K{\"o}hler, Katrin and Rappold, Gudrun and Hoffmann, Sandra},
  title={Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9},
  year={2023},
  pages={1-7},
  language={eng},
  issn={1876-7753},
  volume={69(2023) vom: Apr.},
  number={Artikel-ID 103089},
  note={Online verf{\"u}gbar 30. M{\"a}rz 2023, Artikelversion 5. April 2023 ; Gesehen am 13.06.2023},
  journal={Stem cell research},
  doi={10.1016/j.scr.2023.103089},
}
@article{UBHD-68618066,
  author={Rafiullah, Rafiullah and Aslamkhan, Muhammad and Paramasivam, Nagarajan and Thiel, Christian and Mustafa, Ghulam and Wiemann, Stefan and Schlesner, Matthias and Wade, Rebecca C. and Rappold, Gudrun and Berkel, Simone},
  title={Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family},
  year={2016},
  pages={138-144},
  language={eng},
  issn={1468-6244},
  volume={53},
  number={2},
  note={Published Online First 13 November 2015 ; Gesehen am 17.07.2020},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2015-103179},
}
@article{UBHD-68319054,
  author={Rafiullah, Rafiullah and Blum, Martin and Berkel, Simone and Paramasivam, Nagarajan and Rappold, Gudrun},
  title={A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity},
  year={2017},
  pages={1324-1334},
  language={eng},
  issn={1476-5438},
  volume={25},
  number={12},
  note={Gesehen am 19.10.2018},
  journal={European journal of human genetics},
  doi={10.1038/s41431-017-0031-0},
}
@article{UBHD-68720690,
  author={Rao, Ercole and Blaschke, R{\"u}diger J{\"o}rg and Marchini, Antonio and Niesler, Beate and Burnette, Michael H. and Rappold, Gudrun},
  title={The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator},
  year={2001},
  pages={3083-3091},
  language={eng},
  issn={1460-2083},
  volume={10},
  number={26},
  note={Gesehen am 07.04.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/10.26.3083},
}
@incollection{UBHD-68716882,
  author={Rao, Ercole and Rappold, Gudrun},
  title={Shox homeobox gene and Turner syndrome},
  year={2002},
  pages={149-155},
  language={eng},
  isbn={978-0-306-46823-0},
  note={Gesehen am 25.03.2021},
  booktitle={Genomics and proteomics},
  editor={Suhai, Sándor},
  doi={10.1007/0-306-46823-9_13},
}
@article{UBHD-68718121,
  author={Rao, Ercole and Weiß, Birgit and Fukami, Maki and Mertz, Andrea and Meder, J. and Ogata, Tsutomu and Heinrich, Udo and Garcia-Heras, J. and Schiebel, Katrin and Rappold, Gudrun},
  title={FISH-deletion mapping defines a 270-kb short stature critical interval  in the pseudoautosomal region PAR1 on human sex chromosomes},
  year={1997},
  pages={236-239},
  language={eng},
  issn={1432-1203},
  volume={100},
  number={2},
  note={Gesehen am 30.03.2021},
  journal={Human genetics},
  doi={10.1007/s004390050497},
}
@article{UBHD-68717722,
  author={Rao, Ercole and Weiß, Birgit and Fukami, Maki and Rump, Andreas and Niesler, Beate and Mertz, Annelyse and Muroya, Koji and Binder, Gerhard and Kirsch, Stefan and Winkelmann, Martina and Nordsiek, Gabriele and Heinrich, Udo and Breuning, Martijn H. and Ranke, Michael B. and Rosenthal, André and Ogata, Tsutomu and Rappold, Gudrun},
  title={Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome},
  year={1997},
  pages={54-63},
  language={eng},
  issn={1546-1718},
  volume={16},
  number={1},
  note={Gesehen am 29.03.2021},
  journal={Nature genetics},
  doi={10.1038/ng0597-54},
}
@article{UBHD-69301996,
  author={Rappold, Gudrun},
  title={10 years of international albinism awareness},
  subtitle={United Nations celebrate an anniversary and a decade of collective progress, but challenges remain},
  year={2024},
  pages={217-218},
  language={eng},
  issn={1863-5490},
  volume={36},
  number={3},
  note={Gesehen am 07.02.2025},
  journal={Medizinische Genetik},
  doi={10.1515/medgen-2024-2032},
}
@article{UBHD-68718704,
  author={Rappold, Gudrun and Willson, Tracy A. and Henke, Anja and Gough, Nicholas M.},
  title={Arrangement and localization of the human GM-CSF receptor α chain gene CSF2RA within the X-Y pseudoautosomal region},
  year={1992},
  pages={455-461},
  language={eng},
  issn={1089-8646},
  volume={14},
  number={2},
  note={Online 25 July 2005 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 31.03.2021},
  journal={Genomics},
  doi={10.1016/S0888-7543(05)80241-1},
}
@article{UBHD-68718673,
  author={Rappold, Gudrun and Lichter, Peter},
  title={Assignment of the human homologue of the mouse t-complex gene TCTE3 to human chromosome 6q27},
  year={1992},
  pages={1337-1339},
  language={eng},
  issn={1089-8646},
  volume={13},
  number={4},
  note={Online 29 October 2004 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 31.03.2021},
  journal={Genomics},
  doi={10.1016/0888-7543(92)90062-W},
}
@article{UBHD-69254436,
  author={Rappold, Gudrun},
  title={Celebrating the 100th anniversary of the Japan Endocrine Society and international collaborations},
  year={2024},
  pages={825-826},
  language={eng},
  issn={1348-4540},
  volume={71},
  number={9},
  note={Gesehen am 18.09.2024},
  journal={Endocrine journal},
  doi={10.1507/endocrj.EJ20240112},
}
@book{UBHD-69105900,
  author={Rappold, Gudrun and Hoffmann, Sandra},
  organization={Universit{\"a}t Heidelberg / Abteilung Molekulare Humangenetik},
  title={Charakterisierung von SHOX2 in der Pathogenese von Sinusknotenerkrankungen},
  subtitle={Abschlussbericht . Laufzeit des Projektes: 01.12.2012-31.10.2014},
  publisher={Ruprecht-Karls-Universit{\"a}t Heidelberg, Medizinische Fakult{\"a}t, Universit{\"a}ts-Klinikum, Institut f{\"u}r Humangenetik - Abteilung Molekulare Humangenetik},
  address={Heidelberg},
  year={2015},
  pages={7 Bl{\"a}tter, 1 ungez{\"a}hltes Blatt},
  language={ger},
  note={F{\"o}rderkennzeichen BMBF 81X2500107 ; "Autoren" dem Berichtsblatt entnommen ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource k{\"o}nnen nicht ausgeschlossen werden},
}
@book{UBHD-69105902,
  author={Rappold, Gudrun and Hoffmann, Sandra},
  organization={Universit{\"a}t Heidelberg / Abteilung Molekulare Humangenetik},
  title={Charakterisierung von SHOX2 in der Pathogenese von Sinusknotenerkrankungen},
  subtitle={Abschlussbericht . Laufzeit des Projektes: 01.12.2012-31.10.2014},
  publisher={Ruprecht-Karls-Universit{\"a}t Heidelberg, Medizinische Fakult{\"a}t, Universit{\"a}ts-Klinikum, Institut f{\"u}r Humangenetik - Abteilung Molekulare Humangenetik},
  address={Heidelberg},
  year={2015},
  pages={1 Online-Ressource (8 Seiten, 409,49 KB)},
  language={ger},
  note={F{\"o}rderkennzeichen BMBF 81X2500107 ; "Autoren" dem Berichtsblatt entnommen ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource k{\"o}nnen nicht ausgeschlossen werden},
  doi={10.2314/GBV:855374454},
}
@article{UBHD-68720684,
  author={Rappold, Gudrun and Fukami, Maki and Niesler, Beate and W{\"o}ginger, Simone and Zumkeller, Walter and Bettendorf, Markus and Heinrich, Udo and Vlachopapadoupoulou, Elpis and Reinehr, Thomas and Onigata, Kazumichi and Ogata, Tsutomu},
  title={Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature},
  year={2002},
  pages={1402-1406},
  language={eng},
  issn={1945-7197},
  volume={87},
  number={3},
  note={Gesehen am 07.04.2021},
  journal={The journal of clinical endocrinology & metabolism},
  doi={10.1210/jcem.87.3.8328},
}
@article{UBHD-68718631,
  author={Rappold, Gudrun and Klink, Albrecht and Weiß, Birgit and Fischer, Christine},
  title={Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference},
  year={1994},
  pages={1337-1340},
  language={eng},
  issn={1460-2083},
  volume={3},
  number={8},
  note={Gesehen am 31.03.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/3.8.1337},
}
@article{UBHD-68141492,
  author={Rappold, Gudrun},
  title={Fehlgesteuerte Hormone},
  subtitle={Autismus als Extremform m{\"a}nnlichen Verhaltens?},
  year={2017},
  pages={50-57},
  language={ger and eng},
  volume={10},
  note={Gesehen am 24.07.2017},
  journal={Ruperto Carola},
  editor={Pfeiffer, Thomas},
  doi={10.17885/heiup.ruca.2017.10.23676},
  url={http://nbn-resolving.de/urn:nbn:de:bsz:16-heiup-ruca-236762},
  library={UB},
}
@book{UBHD-3715681,
  author={Rappold, Gudrun},
  title={Feinkartierung von DNA-Proben auf den menschlichen Geschlechtschromosomen X und Y mittels In-situ-Hybridisierung},
  subtitle={ein Beitrag zur Evolution der menschlichen Geschlechtschromosomen},
  year={1984},
  pages={140 Bl.},
  language={ger},
  school={Heidelberg, Univ., Diss., 1984 (Nicht f{\"u}r den Austausch)},
  library={UB ; UB [Signatur: 85 U 691]},
}
@article{UBHD-68800558,
  author={Rappold, Gudrun and Sprengel, Rolf},
  title={Heterogenit{\"a}t SHANK2-bedingter neuropsychiatrischer St{\"o}rungen},
  subtitle={Neurogenetik des Sozialverhaltens},
  year={2020},
  pages={11-15},
  language={ger},
  issn={1868-6249},
  volume={26},
  number={1},
  note={Gesehen am 11.11.2021},
  journal={Biospektrum},
  doi={10.1007/s12268-020-1337-y},
  url={https://doi.org/10.1007/s12268-020-1337-y},
  library={UB},
}
@incollection{UBHD-68720156,
  author={Rappold, Gudrun},
  title={Homeobox genes},
  year={1999},
  pages={1158-1161},
  language={ger},
  isbn={0-471-16648-0 and 978-0-471-16648-1},
  booktitle={[D - K]},
}
@book{UBHD-65741050,
  author={Rappold, Gudrun},
  title={Kleinwuchs und Gene},
  publisher={Universit{\"a}t Heidelberg / Medizinische Fakult{\"a}t Heidelberg},
  address={[S.l.]},
  year={2003},
  pages={Online-Ressource},
  language={ger},
  note={Videoaufzeichnung (6:05 Min.)},
  url={http://www.ub.uni-heidelberg.de/archiv/3507},
  library={UB},
}
@article{UBHD-68290479,
  author={Rappold, Gudrun and Durand, Claudia and Decker, Eva and Marchini, Antonio and Schneider, Katja U.},
  title={New roles of SHOX as regulator of target genes},
  year={2012},
  pages={6 S.},
  language={eng},
  volume={Volume 9},
  note={Gesehen am 31.07.2018 ; Keine DOI vorhanden},
  journal={Pediatric endocrinology reviews},
}
@article{UBHD-68720140,
  author={Rappold, Gudrun and Henke, Anja and Pohlschmid, Marita and Huisman, Titus H. J.},
  title={Pseudoautosomal repeat displays higher variability in Blacks than in Caucasians},
  year={1992},
  pages={573-578},
  language={eng},
  issn={1432-1203},
  volume={88},
  number={5},
  note={Gesehen am 06.04.2021},
  journal={Human genetics},
  doi={10.1007/BF00219347},
}
@book{UBHD-2578039,
  author={Rappold, Gudrun},
  title={Die pseudoautosomale Region der menschlichen Geschlechtschromosomen},
  year={1993},
  pages={54 Bl.},
  language={eng},
  note={Enth. als weiteren Bestandteil 10 Sonderdrucke in Zusammenarb. mit anderen Verf},
  school={Heidelberg, Univ., Habil.-Schr., 1993},
  library={UB [Signatur: 93 U 344]},
}
@article{UBHD-68716351,
  author={Rappold, Gudrun},
  title={Pseudoautosomal regions at the tip of the short and long arms of the human sex chromosomes},
  year={1996},
  pages={205-228},
  language={eng},
  volume={4},
  note={Gesehen am 24.03.2021},
  journal={Advances in genome biology},
  doi={10.1016/S1067-5701(96)80009-X},
}
@incollection{UBHD-68720160,
  author={Rappold, Gudrun and Ried, Karin and Klink, Albrecht and Rao, Ercole and Weiß, Birgit},
  title={Pulsed-Field gel electrophoresis},
  subtitle={protocols},
  year={1999},
  pages={103-113},
  language={eng},
  isbn={9783642598111},
  note={Gesehen am 06.04.2021},
  booktitle={Techniques in molecular medicine},
  doi={10.1007/978-3-642-59811-1_8},
}
@book{UBHD-69105903,
  author={Rappold, Gudrun and Hoffmann, Sandra},
  organization={Universit{\"a}t Heidelberg / Medizinische Fakult{\"a}t and Universit{\"a}t Heidelberg / Abteilung Molekulare Humangenetik},
  title={S{\"a}ule B: Evaluation of microRNA-mediated regulation of Shox2 in atrial fibrillation},
  subtitle={Abschlussbericht : Laufzeit des Projektes: 01.06.2014-31.12.2015},
  publisher={[Ruprecht-Karls-Universit{\"a}t Heidelberg, Medizinische Fakult{\"a}t Heidelberg]},
  address={Heidelberg},
  year={2016},
  pages={9 Bl{\"a}tter, 1 ungez{\"a}hltes Blatt},
  language={ger},
  note={F{\"o}rderkennzeichen BMBF 81X2500112 ; Projektleiterinnen sind laut Berichtsblatt Autorinnen des Berichts ; Durchf{\"u}hrende Institution dem Berichtsblatt entnommen ; Folgebericht zu "Charakterisierung von SHOX2 in der Pathogenese von Sinuskrontenerkrankungen" F{\"o}rderkennzeichen 81X2500107 ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource k{\"o}nnen nicht ausgeschlossen werden},
  keywords={Vorhofflimmern / Transkriptionsfaktor / Pathogenese},
}
@book{UBHD-69105905,
  author={Rappold, Gudrun and Hoffmann, Sandra},
  organization={Universit{\"a}t Heidelberg / Medizinische Fakult{\"a}t and Universit{\"a}t Heidelberg / Abteilung Molekulare Humangenetik},
  title={S{\"a}ule B: Evaluation of microRNA-mediated regulation of Shox2 in atrial fibrillation},
  subtitle={Abschlussbericht : Laufzeit des Projektes: 01.06.2014-31.12.2015},
  publisher={[Ruprecht-Karls-Universit{\"a}t Heidelberg, Medizinische Fakult{\"a}t Heidelberg]},
  address={Heidelberg},
  year={2016},
  pages={1 Online-Ressource (10 Seiten, 938,67 KB)},
  language={ger},
  note={F{\"o}rderkennzeichen BMBF 81X2500112 ; Projektleiterinnen sind laut Berichtsblatt Autorinnen des Berichts ; Durchf{\"u}hrende Institution dem Berichtsblatt entnommen ; Folgebericht zu "Charakterisierung von SHOX2 in der Pathogenese von Sinuskrontenerkrankungen" F{\"o}rderkennzeichen 81X2500107 ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource k{\"o}nnen nicht ausgeschlossen werden},
  doi={10.2314/GBV:893511307},
  keywords={Vorhofflimmern / Transkriptionsfaktor / Pathogenese},
}
@article{UBHD-67244375,
  author={Rappold, Gudrun and Niesler, Beate and Kapeller, Johannes and Lasitschka, Felix and Autschbach, Frank},
  title={Serotonin receptor diversity in the human colon},
  subtitle={expression of serotonin type 3 receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E},
  year={2011},
  pages={420-432},
  language={eng},
  issn={0021-9967 and 0092-7317},
  volume={519},
  number={3},
  journal={The journal of comparative neurology},
}
@incollection{UBHD-68716879,
  author={Rappold, Gudrun and Blaschke, R{\"u}diger J{\"o}rg and Rao, Ercole and W{\"o}ginger, Simone and Clement-Jones, Mark and Lindsay, Susan and Strachan, Tom},
  title={The short stature homeobox gene is involved in the skeletal abnormalities in Turner syndrome},
  year={2000},
  pages={3-8},
  language={eng},
  isbn={0-444-50583-0 and 978-0-444-50583-5},
  booktitle={Optimizing health care for Turner patients in the 21st century},
}
@article{UBHD-68720675,
  author={Rappold, Gudrun},
  title={SHOX},
  subtitle={a geneticist’s view},
  year={2002},
  pages={1911-1912},
  language={eng},
  issn={1945-7197},
  volume={87},
  number={4},
  note={Gesehen am 07.04.2021},
  journal={The journal of clinical endocrinology & metabolism},
  doi={10.1210/jcem.87.4.8424},
}
@incollection{UBHD-68716891,
  author={Rappold, Gudrun and Rao, Ercole and Weiß, Birgit and Mertz, Andrea and Meder, J. and Schiebel, Katrin and Ogata, T. and Matsuo, N.},
  title={Turner phenotype and X-chromosome abnormalities},
  subtitle={regarding short stature},
  year={1995},
  pages={19-24},
  language={eng},
  isbn={0-444-82188-0 and 978-0-444-82188-1},
  booktitle={Turner syndrome in a life span perspective},
}
@article{UBHD-68777373,
  author={Rappold, Gudrun},
  title={Wenn die Intelligenz beeintr{\"a}chtigt ist},
  year={2021},
  pages={165-178},
  language={ger},
  issn={2509-2464},
  volume={6},
  note={Gesehen am 07.09.2021},
  journal={Heidelberger Jahrb{\"u}cher online},
  doi={10.17885/heiup.hdjbo.2021.1.24384},
  url={https://doi.org/10.17885/heiup.hdjbo.2021.1.24384},
  library={UB},
}
@article{UBHD-68242360,
  author={Rauch, Anita and Rappold, Gudrun and Wieacker, Peter},
  title={Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability},
  subtitle={an exome sequencing study},
  year={2012},
  pages={1674-1682},
  language={eng},
  issn={1474-547X},
  volume={380},
  number={9854},
  note={Gesehen am 12.04.2018},
  journal={The lancet},
  doi={10.1016/S0140-6736(12)61480-9},
}
@article{UBHD-68717681,
  author={Dunnen, Johannes T. den and Niesler, Beate and Blankenagel, Anita and Rappold, Gudrun},
  organization={Retinoschisis Consortium},
  title={Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)},
  year={1998},
  pages={1185-1192},
  language={eng},
  issn={1460-2083},
  volume={7},
  number={7},
  note={Gesehen am 29.03.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/7.7.1185},
}
@article{UBHD-68718661,
  author={Ried, Karin and Mertz, Annelyse and Nagaraja, Ramaiah and Trusgnich, Michelle and Riley, John H. and Anand, Rakesh and Lehrach, Hans and Page, David and Ellison, Jay W. and Rappold, Gudrun},
  title={Characterization of a YAC contig spanning the pseudoautosomal region},
  year={1995},
  pages={787-792},
  language={eng},
  issn={1089-8646},
  volume={29},
  number={3},
  note={Online 25 May 2002 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 31.03.2021},
  journal={Genomics},
  doi={10.1006/geno.1995.9933},
}
@article{UBHD-68717663,
  author={Ried, Karin and Rao, Ercole and Schiebel, Katrin and Rappold, Gudrun},
  title={Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1},
  subtitle={isolation of the gene ASMTL},
  year={1998},
  pages={1771-1778},
  language={eng},
  issn={1460-2083},
  volume={7},
  number={11},
  note={Gesehen am 29.03.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/7.11.1771},
}
@article{UBHD-68720632,
  author={Sargent, Carole A. and Boucher, Catherine A. and Kirsch, Stefan and Brown, Graeme and Weiß, Birgit and Trundley, Anita and Burgoyne, Paul and Saut, Neomie and Durand, Christine and Levy, Nicolas and Terriou, Philippe and Hargreave, Timothy B. and Cooke, Howard and Mitchell, Michael and Rappold, Gudrun and Affara, Nabeel A.},
  title={The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences},
  year={1999},
  pages={670-677},
  language={eng},
  issn={1468-6244},
  volume={36},
  number={9},
  note={Gesehen am 07.04.2021},
  journal={Journal of medical genetics},
  doi={10.1136/jmg.36.9.670},
}
@article{UBHD-68304738,
  author={Sato, Daisuke and Endris, Volker and R{\"o}th, Ralph and Rappold, Gudrun},
  title={SHANK1 deletions in males with autism spectrum disorder},
  year={2012},
  pages={879-887},
  language={eng},
  issn={1537-6605},
  volume={90},
  number={5},
  note={Available online 12 April 2012 ; Gesehen am 13.09.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2012.03.017},
}
@article{UBHD-68557928,
  author={Schaaf, Christian P. and Rappold, Gudrun},
  title={Nachruf Prof. Dr. rer. nat. Werner Buselmaier},
  year={2019},
  pages={422-423},
  language={ger},
  issn={1863-5490},
  volume={31},
  number={4},
  journal={Medizinische Genetik},
}
@article{UBHD-68720645,
  author={Schaffner, Claudia and Stilgenbauer, Stephan and Rappold, Gudrun and D{\"o}hner, Hartmut and Lichter, Peter},
  title={Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia},
  year={1999},
  pages={748-753},
  language={eng},
  issn={1528-0020},
  volume={94},
  number={2},
  note={Online 14 December 2020 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 07.04.2021},
  journal={Blood},
  doi={10.1182/blood.V94.2.748},
}
@article{UBHD-68718713,
  author={Schaible, Gudrun and Rappold, Gudrun and Pargent, Walter and Zachau, Hans Georg},
  title={The immunoglobulin κ locus},
  subtitle={polymorphism and haplotypes of Caucasoid and non-Caucasoid individuals},
  year={1993},
  pages={261-267},
  language={eng},
  issn={1432-1203},
  volume={91},
  number={3},
  note={Gesehen am 31.03.2021},
  journal={Human genetics},
  doi={10.1007/BF00218268},
}
@article{UBHD-68718137,
  author={Schiebel, Katrin and Winkelmann, Martina and Mertz, Annelyse and Xu, Xiaoling and Page, David C. and Weil, Dominique and Petit, Christine and Rappold, Gudrun},
  title={Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of All (Y+)XX males and (Y-)XY females},
  year={1997},
  pages={1985-1989},
  language={eng},
  issn={1460-2083},
  volume={6},
  number={11},
  note={Gesehen am 30.03.2021},
  journal={Human molecular genetics},
  doi={10.1093/hmg/6.11.1985},
}
@article{UBHD-68717766,
  author={Schiebel, Katrin and Mertz, A. and Winkelmann, M. and Gl{\"a}ser, Birgitta and Schempp, Werner and Rappold, Gudrun},
  title={FISH localization of the human Y-homolog of protein kinase PRKX (PRKY) to Yp11.2 and two pseudogenes to 15q26 and Xq12-->q13},
  year={1997},
  pages={49-52},
  language={eng},
  issn={1421-9816},
  volume={76},
  number={1-2},
  note={Elektronische Reproduktion der Druck-Ausgabe ; Online: May 20, 2008 ; Gesehen am 29.03.2021},
  journal={Cytogenetics and cell genetics},
  doi={10.1159/000134514},
}
@article{UBHD-68718191,
  author={Schiebel, Katrin and Weiß, Birgit and Steinbach, Doris and Rappold, Gudrun},
  title={A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation},
  year={1993},
  pages={82-87},
  language={eng},
  issn={1546-1718},
  volume={3},
  number={1},
  note={Gesehen am 30.03.2021},
  journal={Nature genetics},
  doi={10.1038/ng0193-82},
}
@article{UBHD-68718627,
  author={Schiebel, Katrin and Mertz, Annelyse and Winkelmann, Martina and Nagaraja, Ramaiah and Rappold, Gudrun},
  title={Localization of the adenine nucleotide translocase gene ANT2 to chromosome Xq24-q25 with tight linkage to DXS425},
  year={1994},
  pages={605-606},
  language={eng},
  issn={1089-8646},
  volume={24},
  number={3},
  note={Online 25 May 2002 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 31.03.2021},
  journal={Genomics},
  doi={10.1006/geno.1994.1675},
}
@article{UBHD-68563366,
  author={Schmitteckert, Stefanie and Rappold, Gudrun and Niesler, Beate},
  title={Molecular characterization of embryonic stem cell-derived cardiac neural crest-like cells revealed a spatiotemporal expression of an Mlc-3 isoform},
  year={2020},
  pages={65-79},
  language={eng},
  issn={2005-5447},
  volume={13},
  number={1},
  note={Published online: December 31, 2019 ; Gesehen am 14.04.2020},
  journal={International Journal of Stem Cells},
  doi={10.15283/ijsc19069},
}
@article{UBHD-68205043,
  author={Schmitteckert, Stefanie and Sumer, Simon and Jauch, Anna and Rolletschek, Alexandra and Niesler, Beate and Rappold, Gudrun and Hoffmann, Sandra},
  title={Murine transgenic embryonic stem cell lines for the investigation of sinoatrial node-related molecular pathways},
  year={2017},
  pages={278-282},
  language={eng},
  issn={1876-7753},
  volume={25},
  number={Supplement C},
  note={Gesehen am 21.12.2017},
  journal={Stem cell research},
  doi={10.1016/j.scr.2017.07.011},
  url={http://dx.doi.org/10.1016/j.scr.2017.07.011},
  library={UB},
}
@article{UBHD-68752608,
  author={Schmitteckert, Stefanie and Mederer, Tanja and R{\"o}th, Ralph and G{\"u}nther, Patrick and Holland-Cunz, Stefan and Metzger, Marco and Samstag, Yvonne and Schr{\"o}der-Braunstein, Jutta and Wabnitz, Guido H. and Kurzhals, Stefan and Scheuerer, Jutta and Beretta, Carlo Antonio and Lasitschka, Felix and Rappold, Gudrun and Romero, Philipp and Niesler, Beate},
  title={Postnatal human enteric neurospheres show a remarkable molecular complexity},
  year={2019},
  pages={1-14},
  language={eng},
  issn={1365-2982},
  volume={31},
  note={Gesehen am 25.06.2021},
  journal={Neurogastroenterology and motility},
  doi={10.1111/nmo.13674},
}
@article{UBHD-68976816,
  author={Schneider, Katja U. and Dietrich, Dimo and Fleischhacker, Michael and Leschber, Gunda and Merk, Johannes and Sch{\"a}per, Frank and Stapert, Henk R. and Vossenaar, Erik R. and Weickmann, Sabine and Liebenberg, Volker and Kneip, Christoph and Seegebarth, Anke and Erdogan, Fikret and Rappold, Gudrun and Schmidt, Bernd},
  title={Correlation of SHOX2 gene amplification and DNA methylation in lung cancer tumors},
  year={2011},
  pages={1-9},
  language={eng},
  issn={1471-2407},
  volume={11},
  number={Artikel-ID 102},
  journal={BMC cancer},
  doi={10.1186/1471-2407-11-102},
}
@article{UBHD-68716207,
  author={Seidel, J{\"o}rg and W{\"o}ginger, Simone and Kelbova, Christina and Beensen, Volkmar and Orth, Ulrike and Vogt, Susanna and Claussen, Uwe and Zintl, Felix and Rappold, Gudrun},
  title={Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation},
  year={2001},
  pages={115-121},
  language={eng},
  issn={1399-0004},
  volume={59},
  number={2},
  note={Gesehen am 24.03.2021},
  journal={Clinical genetics},
  doi={10.1034/j.1399-0004.2001.590209.x},
}
@book{UBHD-68255560,
  author={Sena Cortabitarte, Ana de and Berkel, Simone and Cristian, Flavia-Bianca and Fischer, Christine and Rappold, Gudrun},
  title={A direct regulatory link between microRNA-137 and SHANK2},
  subtitle={implications for neuropsychiatric disorders},
  publisher={Springer},
  address={New York},
  year={2018},
  pages={1 Online-Ressource},
  language={eng},
  note={Aus: Journal of Neurodevelopmental Disorders, 10 (2018), Nr. 15. pp. 1-11. ISSN 1866-1955},
  doi={10.1186/s11689-018-9233-1},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-243752},
  library={UB},
}
@article{UBHD-68250350,
  author={Sena Cortabitarte, Ana de and Weiß, Birgit and R{\"o}th, Ralph and Fischer, Christine and Rietschel, Marcella and Rappold, Gudrun and Berkel, Simone},
  title={Investigation of SHANK3 in schizophrenia},
  year={2017},
  pages={390-398},
  language={eng},
  issn={1552-485X},
  volume={174},
  number={4},
  note={Gesehen am 08.05.2018},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.b.32528},
}
@article{UBHD-68422019,
  author={Simm, Franziska and Griesbeck, Anne and Choukair, Daniela and Weiß, Birgit and Paramasivam, Nagarajan and Klammt, J{\"u}rgen and Schlesner, Matthias and Wiemann, Stefan and Martinez, Cristina and Hoffmann, Georg F. and Pf{\"a}ffle, Roland Werner and Bettendorf, Markus and Rappold, Gudrun},
  title={Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency},
  year={2018},
  pages={728-736},
  language={eng},
  issn={1530-0366},
  volume={20},
  number={7},
  note={Advance online publication: 26 October 2017 ; Gesehen am 19.08.2019},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.165},
}
@article{UBHD-68574876,
  author={Sollis, Elliot and Fr{\"o}hlich, Henning and Rappold, Gudrun},
  title={Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder},
  year={2016},
  pages={546-557},
  language={eng},
  issn={1460-2083},
  volume={25},
  number={3},
  note={Advance access publication date: 8 December 2015 ; Gesehen am 08.05.2020},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddv495},
}
@article{UBHD-68669417,
  author={Spranger, Stephanie and W{\"o}ginger, Simone and Jauch, Anna and Wolff, Kathrin and Rauterberg-Ruland, Inge and Hager, Dieter and Tariverdian, Gholamali and Tr{\"o}ger, Jochen and Rappold, Gudrun},
  title={Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3},
  year={1999},
  pages={367-371},
  language={eng},
  issn={1096-8628},
  volume={83},
  number={5},
  note={Gesehen am 04.12.2020},
  journal={American journal of medical genetics},
  doi={10.1002/(SICI)1096-8628(19990423)83:5<367::AID-AJMG5>3.0.CO;2-K},
}
@article{UBHD-68718143,
  author={Spranger, Stephanie and Kirsch, S. and Mertz, A. and Schiebel, Katrin and Tariverdian, Gholamali and Rappold, Gudrun},
  title={Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height},
  year={1997},
  pages={346-350},
  language={eng},
  issn={1399-0004},
  volume={51},
  number={5},
  note={Elektronische Reproduktion der Druck-Ausgabe ; Online: 28 June 2008 ; Gesehen am 30.03.2021},
  journal={Clinical genetics},
  doi={10.1111/j.1399-0004.1997.tb02486.x},
}
@article{UBHD-68716221,
  author={Stankiewicz, Paweł and Hélias‐Rodzewicz, Zofia and Jakubów‐Durska, Krystyna and Bocian, Ewa and Obersztyn, Ewa and Rappold, Gudrun and Mazurczak, Tadeusz},
  title={Cytogenetic and molecular characterization of two isodicentric Y chromosomes},
  year={2001},
  pages={20-25},
  language={eng},
  issn={1552-4833},
  volume={101},
  number={1},
  note={Gesehen am 24.03.2021},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.1304},
}
@article{UBHD-68716224,
  author={Stankiewicz, Paweł and Thiele, Hannelore and Baldermann, Christiane and Kr{\"u}ger, Antje and Giannakudis, Ioannis and D{\"o}rr, Sylvia and Werner, Nadeshda and Kunz, J{\"u}rgen and Rappold, Gudrun and Hansmann, Ingo},
  title={Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus},
  year={2001},
  pages={56-62},
  language={eng},
  issn={1552-4833},
  volume={103},
  number={1},
  note={Gesehen am 24.03.2021},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.1512},
}
@article{UBHD-68720175,
  author={Stuppia, Liborio and Calabrese, Gaetano and Borrelli, P. and Gatta, V. and Morizio, E. and Mingarelli, R. and Di Gilio, M. C. and Crinò, A. and Giannotti, A. and Rappold, Gudrun and Palka, Giandomenico},
  title={Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male},
  year={1999},
  pages={711-713},
  language={eng},
  issn={1468-6244},
  volume={36},
  number={9},
  note={Gesehen am 06.04.2021},
  journal={Journal of medical genetics},
}
@article{UBHD-68666689,
  author={Sumer, Simon and Hoffmann, Sandra and Laue, Svenja and Campbell, Birgit and R{\"a}decke, Kristin and Frajs, Viktoria and Clauss, Sebastian and K{\"a}{\"a}b, Stefan and Janssen, Johannes W. G. and Jauch, Anna and Laugwitz, Karl-Ludwig and Dorn, Tatjana and Moretti, Alessandra and Rappold, Gudrun},
  title={Precise correction of heterozygous SHOX2 mutations in hiPSCs derived from patients with atrial fibrillation via genome editing and sib selection},
  year={2020},
  pages={999-1013},
  language={eng},
  issn={2213-6711},
  volume={15},
  number={4},
  note={Gesehen am 30.11.2020},
  journal={Stem cell reports},
  doi={10.1016/j.stemcr.2020.08.015},
}
@article{UBHD-68718197,
  author={Toder, Roland and Rappold, Gudrun and Schiebel, Katrin and Schempp, Werner},
  title={ANT3 and STS are autosomal in prosimian lemurs},
  subtitle={implications for the evolution of the pseudoautosomal region},
  year={1995},
  pages={22-28},
  language={eng},
  issn={1432-1203},
  volume={95},
  number={1},
  note={Gesehen am 30.03.2021},
  journal={Human genetics},
  doi={10.1007/BF00225068},
}
@article{UBHD-68717752,
  author={Toder, Roland and Gl{\"a}ser, Birgitta and Schiebel, Katrin and Wilcox, S. A. and Rappold, Gudrun and Graves, J. A. M. and Schempp, Werner},
  title={Genes located in and near the human pseudoautosomal region are located in the X-Y pairing region in dog and sheep},
  year={1997},
  pages={301-306},
  language={eng},
  issn={1573-6849},
  volume={5},
  number={5},
  note={Gesehen am 29.03.2021},
  journal={Chromosome research},
  doi={10.1023/B:CHRO.0000038760.84605.0d},
}
@article{UBHD-68718642,
  author={Uetz, Peter and Abdelatty, Fawzy and Villarroel, Alfredo and Rappold, Gudrun and Weiß, Birgit and Koenen, Michael},
  title={Organisation of the murine 5-HT3 receptor gene and assignment tohuman chromosome 11},
  year={1994},
  pages={302-306},
  language={eng},
  issn={1873-3468},
  volume={339},
  number={3},
  note={Gesehen am 31.03.2021},
  journal={FEBS letters},
  doi={10.1016/0014-5793(94)80435-4},
}
@article{UBHD-68717429,
  author={Unsicker, Christine and Cristian, Flavia-Bianca and Hahn, Manja von and Eckstein, Volker and Rappold, Gudrun and Berkel, Simone},
  title={SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells},
  year={2021},
  pages={1-15},
  language={eng},
  issn={2045-2322},
  volume={11},
  number={Artikel-ID 2128},
  note={Gesehen am 25.03.2021},
  journal={Scientific reports},
  doi={10.1038/s41598-021-81241-4},
  url={https://doi.org/10.1038/s41598-021-81241-4},
  library={UB},
}
@article{UBHD-68909291,
  author={Vick, Philipp and Fredershausen, Birgit and Choukair, Daniela and Weiß, Birgit and R{\"o}th, Ralph and Schneider, Isabelle and Paramasivam, Nagarajan and Bettendorf, Markus and Rappold, Gudrun},
  title={Identification of ZBTB26 as a novel risk factor for congenital hypothyroidism},
  year={2021},
  pages={1-10},
  language={eng},
  issn={2073-4425},
  volume={12},
  note={Gesehen am 21.04.2022},
  journal={Genes},
  doi={10.3390/genes12121862},
}
@article{UBHD-69126321,
  author={Walstab, Jutta and Rappold, Gudrun and Niesler, Beate},
  title={5-HT3 receptors},
  subtitle={role in disease and target of drugs},
  year={2010},
  pages={146-169},
  language={eng},
  issn={1879-016X},
  volume={128},
  number={1 vom: Okt.},
  note={Im Titel erscheint die Ziffer 3 tiefgestellt ; Gesehen am 04.10.2023},
  journal={Pharmacology & therapeutics},
  doi={10.1016/j.pharmthera.2010.07.001},
}
@article{UBHD-69126307,
  author={Walstab, Jutta and Hammer, Christian and Lasitschka, Felix and M{\"o}ller, Dorothee and Connolly, Christopher N. and Rappold, Gudrun and Br{\"u}ss, Michael and B{\"o}nisch, Heinz and Niesler, Beate},
  title={RIC-3 exclusively enhances the surface expression of human homomeric 5-hydroxytryptamine type 3A (5-HT3A) receptors despite direct interactions with 5-HT3A, -C, -D, and -E subunits},
  year={2010},
  pages={26956-26965},
  language={eng},
  issn={1083-351X},
  volume={285},
  number={35 vom: Aug.},
  note={Im Titel erscheint bei dem Ausdruck (5-HT3A) die Ziffer 3 tiefgestellt ; Gesehen am 04.10.2023},
  journal={The journal of biological chemistry},
  doi={10.1074/jbc.M110.122838},
}
@article{UBHD-68295723,
  author={Waltereit, Robert and Schneider, Miriam and Endris, Volker and Bacon, Claire and Rappold, Gudrun and Wieland, Thomas and Bartsch, Dusan},
  title={Srgap3−/− mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes},
  year={2012},
  pages={4418-4428},
  language={eng},
  issn={1530-6860},
  volume={26},
  number={11},
  note={Published online 20 July 2012 ; Gesehen am 15.08.2018},
  journal={The FASEB journal},
  doi={10.1096/fj.11-202317},
}
@article{UBHD-68917181,
  author={Wang, Jing and Fr{\"o}hlich, Henning and Torres, Felipe Bodaleo and Silva, Rangel Leal and Poschet, Gernot and Agarwal, Amit and Rappold, Gudrun},
  title={Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome},
  year={2022},
  pages={1-11},
  language={eng},
  issn={1091-6490},
  volume={119},
  note={Gesehen am 11.05.2022},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  doi={10.1073/pnas.2112852119},
}
@article{UBHD-68913206,
  author={Wang, Jing and Rappold, Gudrun and Fr{\"o}hlich, Henning},
  title={Disrupted mitochondrial network drives deficits of learning and memory in a mouse model of FOXP1 haploinsufficiency},
  year={2022},
  pages={1-12},
  language={eng},
  issn={2073-4425},
  volume={13},
  note={Gesehen am 02.05.2022},
  journal={Genes},
  doi={10.3390/genes13010127},
}
@article{UBHD-68718707,
  author={Wapenaar, Martin C. and Petit, Christine and Basler, E. and Ballabio, A. and Henke, Anja and Rappold, Gudrun and Paassen, H. M. B. and Blonden, L. A. J. and Ommen, G. J. B.},
  title={Physical mapping of 14 new DNA markers isolated from the human distal Xp region},
  year={1992},
  pages={167-175},
  language={eng},
  issn={1089-8646},
  volume={13},
  number={1},
  note={Online 6 December 2004 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 31.03.2021},
  journal={Genomics},
  doi={10.1016/0888-7543(92)90217-G},
}
@article{UBHD-68718657,
  author={Weiß, Birgit and Mertz, Annelyse and Schr{\"o}ck, Evelin and Koenen, Michael and Rappold, Gudrun},
  title={Assignment of a human homolog of the mouse Htr3 receptor gene to chromosome 11q23.1-q23.2},
  year={1995},
  pages={304-305},
  language={eng},
  issn={1089-8646},
  volume={29},
  number={1},
  note={Online 25 May 2002 ; Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 31.03.2021},
  journal={Genomics},
  doi={10.1006/geno.1995.1254},
}
@article{UBHD-68718636,
  author={Weiß, Birgit and Rappold, Gudrun},
  title={DXYS161 detects a VNTR locus in the pseudoautosomal region},
  year={1994},
  pages={2084},
  language={eng},
  issn={1460-2083},
  volume={3},
  number={11},
  note={Gesehen am 31.03.2021},
  journal={Human molecular genetics},
}
@article{UBHD-68757638,
  author={Weiß, Birgit and R{\"o}th, Ralph and Hinderhofer, Katrin and Rappold, Gudrun},
  title={Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes},
  year={2021},
  pages={8 S.},
  language={eng},
  issn={1664-2392},
  volume={12(2021) vom: 4. Juni},
  number={Artikel-ID 660731},
  note={Gesehen am 08.07.2021},
  journal={Frontiers in endocrinology},
  doi={10.3389/fendo.2021.660731},
  url={https://doi.org/10.3389/fendo.2021.660731},
  library={UB},
}
@article{UBHD-69185624,
  author={Weiß, Birgit and Ott, Tim and Vick, Philipp and Lui, Julian C. and R{\"o}th, Ralph and Vogel, Sebastian and Waldm{\"u}ller, Stephan and Hoffmann, Sandra and Baron, Jeffrey and Wit, Jan M. and Rappold, Gudrun},
  title={Identification of novel genes including NAV2 associated with isolated tall stature},
  year={2023},
  pages={1-11},
  language={eng},
  issn={1664-2392},
  volume={14(2023) vom: Dez.},
  number={Artikel-ID 1258313},
  note={Gesehen am 26.02.2024},
  journal={Frontiers in endocrinology},
  doi={10.3389/fendo.2023.1258313},
  url={https://doi.org/10.3389/fendo.2023.1258313},
  library={UB},
}
@article{UBHD-69304074,
  author={Werren, Elizabeth A. and Peirent, Emily R. and Jantti, Henna and Guxholli, Alba and Srivastava, Kinshuk Raj and Orenstein, Naama and Narayanan, Vinodh and Wiszniewski, Wojciech and Dawidziuk, Mateusz and Gawlinski, Pawel and Umair, Muhammad and Khan, Amjad and Khan, Shahid Niaz and Geneviève, David and Lehalle, Daphné and van Gassen, K. L. I. and Giltay, Jacques C. and Oegema, Renske and van Jaarsveld, Richard H. and Rafiullah, Rafiullah and Rappold, Gudrun and Rabin, Rachel and Pappas, John G. and Wheeler, Marsha M. and Bamshad, Michael J. and Tsan, Yao-Chang and Johnson, Matthew B. and Keegan, Catherine E. and Srivastava, Anshika and Bielas, Stephanie L.},
  title={Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations},
  year={2024},
  pages={[1]-15},
  language={eng},
  issn={2041-4889},
  volume={15},
  number={Article number 379},
  note={Online ver{\"o}ffentlicht: 30. Mai 2024 ; Gesehen am 13.02.2025},
  journal={Cell death & disease},
  doi={10.1038/s41419-024-06768-6},
}
@article{UBHD-68720669,
  author={Wimmer, Rainer and Kirsch, Stefan and Rappold, Gudrun and Schempp, Werner},
  title={Direct evidence for the Homo-Pan clade},
  year={2002},
  pages={55-61},
  language={eng},
  issn={1573-6849},
  volume={10},
  number={1},
  note={Gesehen am 07.04.2021},
  journal={Chromosome research},
  doi={10.1023/A:1014222311431},
}
@article{UBHD-68716239,
  author={W{\"o}ginger, Simone and Spranger, Stephanie and Wogatzky, Birgit and Fukami, Maki and Merker, Sabine and Drop, Stenvert and Tr{\"o}ger, Jochen and Knoblauch, Hans and Kunze, J{\"u}rgen and Seidel, J{\"o}rg and Rappold, Gudrun},
  title={Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome},
  year={2000},
  pages={54-62},
  language={eng},
  issn={1476-5438},
  volume={8},
  number={1},
  note={Gesehen am 24.03.2021},
  journal={European journal of human genetics},
  doi={10.1038/sj.ejhg.5200402},
}
@article{UBHD-68215976,
  author={Wohlfarth, Carolin and Schmitteckert, Stefanie and Dweep, Harsh and Fischer, Christine and Granzow, Martin and Burwinkel, Barbara and Lorenzo Bermejo, Justo and R{\"o}th, Ralph and Lasitschka, Felix and Rappold, Gudrun and Niesler, Beate},
  title={miR-16 and miR-103 impact 5-HT 4 receptor signalling and correlate with symptom profile in irritable bowel syndrome},
  year={2017},
  pages={14 S.},
  language={eng},
  issn={2045-2322},
  volume={7(2017) Artikel-Nummer 14680},
  number={14 Seiten},
  note={Gesehen am 01.02.2018},
  journal={Scientific reports},
  doi={10.1038/s41598-017-13982-0},
  url={http://dx.doi.org/10.1038/s41598-017-13982-0},
  library={UB},
}
@book{UBHD-68176324,
  author={Wolff-Metternich, Sophie von and Tag, Brigitte and Rappold, Gudrun and Kl{\"o}cker, Uta Kathrin Maria and Protzer-Knolle, Ulrike},
  editor={Pucci, Annemarie and Speck, Agnes},
  title={Biotechnologie und Lifescience},
  subtitle={Unkontrollierbare Gefahren f{\"u}r das menschliche Leben?},
  edition={1. Aufl.},
  publisher={Verlag Das W̱underhorn GmbH},
  address={Heidelberg},
  year={2003},
  pages={200 S.},
  language={ger},
  isbn={3-88423-209-6 and 978-3-88423-209-5},
  number={ARRAY(0x5560205bcb30)},
  series={Heidelberger Frauenstudien},
}
@incollection{UBHD-68716315,
  author={Zimmermann, Bastian and Klink, A. and Rappold, Gudrun and Herberg, Friedrich W.},
  title={Protein kinase X},
  subtitle={a novel human protein kinase closely related to the catalytic subunit of cAMP-dependent protein kinase},
  year={1997},
  pages={15-18},
  language={eng},
  isbn={978-3-642-60848-3},
  note={Gesehen am 24.03.2021},
  booktitle={Interacting Protein Domains},
  editor={Heilmeyer, Ludwig M. G.},
  doi={10.1007/978-3-642-60848-3_3},
}