@article{UBHD-68586284,
  author={Kaiser, Ann-Sophie and Maas, Bianca and Wolff, Anna and Sutter, Christian and Janssen, Johannes W. G. and Hinderhofer, Katrin and Moog, Ute},
  title={Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia},
  year={2015},
  pages={704-707},
  language={eng},
  issn={1476-5438},
  volume={23},
  number={5},
  note={Published online 13 August 2014 ; Gesehen am 16.06.2020},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2014.163},
}
@book{UBHD-67016129,
  author={Kaiser, Ann-Sophie},
  title={Die Rolle des langen Pentraxins-3 (PTX3) in der Implantation},
  subtitle={Expressionsanalyse nach Stimulation mit Seminalplasma, PGE2 und PGF2alpha, sowie Untersuchung der PTX3-Proteinverteilung bei habituellen Aborten},
  year={2010},
  pages={96 Bl.},
  language={ger},
  school={Heidelberg, Univ., Diss., 2010},
  library={UB [Signatur: 2011 U 234]},
}
@article{UBHD-69294701,
  author={Mulder, Paul and Balkom, Ingrid D. C. van and Landlust, Annemiek M. and Priolo, Manuela and Menke, Leonie A. and Acero, Ines Hernandez and Alkuraya, Fowzan S. and Arias, Pedro and Bernardini, Laura and Bijlsma, Emilia K. and Cole, Trevor and Coubes, Christine and Dapia, Irene and Davies, Sally and Di Donato, Nataliya and Elcioglu, Nursel H. and Fahrner, Jill A. and Foster, Alison and González, Noelia Garcia and Huber, Ilka and Iascone, Maria and Kaiser, Ann-Sophie and Kamath, Arveen and Kooblall, Kreepa and Lapunzina, Pablo and Liebelt, Jan and Lynch, Sally Ann and Maas, Saskia M. and Mammì, Corrado and Mathijssen, Inge B. and McKee, Shane and Mirzaa, Ghayda M. and Montgomery, Tara and Neubauer, Dorothee and Neumann, Thomas E. and Pintomalli, Letizia and Pisanti, Maria A. and Plomp, Astrid S. and Price, Sue and Salter, Claire and Santos‐Simarro, Fernando and Sarda, Pierre and Schanze, Denny and Segovia, Mabel and Shaw‐Smith, Charles and Smithson, Sarah and Suri, Mohnish and Tatton‐Brown, Katrin and Tenorio, Jair and Thakker, Rajesh V. and Valdez, Rita Maria and Haeringen, Arie van and Hagen, Johanna M. van and Zenker, Martin and Zollino, Marcela and Dunn, Winnie W. and Piening, Sigrid and Hennekam, Raoul C.},
  title={Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome},
  subtitle={phenotype comparison in two related syndromes},
  year={2020},
  pages={956-969},
  language={eng},
  issn={1365-2788},
  volume={64},
  number={12 vom: Dez.},
  note={Gesehen am 28.01.2025},
  journal={Journal of intellectual disability research},
  doi={10.1111/jir.12787},
}
@article{UBHD-68615113,
  author={Prasad, Megana K. and Geoffroy, Véronique and Vicaire, Serge and Jost, Bernard and Dumas, Michael and Gras, Stéphanie Le and Switala, Marzena and Gasse, Barbara and Laugel-Haushalter, Virginie and Paschaki, Marie and Leheup, Bruno and Droz, Dominique and Dalstein, Amelie and Loing, Adeline and Grollemund, Bruno and Muller-Bolla, Michèle and Lopez-Cazaux, Séréna and Minoux, Maryline and Jung, Sophie and Obry, Frédéric and Vogt, Vincent and Davideau, Jean-Luc and Davit-Beal, Tiphaine and Kaiser, Ann-Sophie and Moog, Ute and Richard, Béatrice and Morrier, Jean-Jacques and Duprez, Jean-Pierre and Odent, Sylvie and Bailleul-Forestier, Isabelle and Rousset, Monique Marie and Merametdijan, Laure and Toutain, Annick and Joseph, Clara and Giuliano, Fabienne and Dahlet, Jean-Christophe and Courval, Aymeric and Alloussi, Mustapha El and Laouina, Samir and Soskin, Sylvie and Guffon, Nathalie and Dieux, Anne and Doray, Bérénice and Feierabend, Stephanie and Ginglinger, Emmanuelle and Fournier, Benjamin and Molla, Muriel de la Dure and Alembik, Yves and Tardieu, Corinne and Clauss, François and Berdal, Ariane and Stoetzel, Corinne and Manière, Marie Cécile and Dollfus, Hélène and Bloch-Zupan, Agnès},
  title={A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement},
  year={2016},
  pages={98-110},
  language={eng},
  issn={1468-6244},
  volume={53},
  number={2},
  note={Published online first 26 October 2015 ; Gesehen am 09.07.2020},
  journal={Journal of medical genetics},
  doi={10.1136/jmedgenet-2015-103302},
}
@article{UBHD-68577103,
  author={Priolo, Manuela and Schanze, Denny and Tatton‐Brown, Katrin and Mulder, Paul A. and Tenorio, Jair and Kooblall, Kreepa and Acero, Inés Hernández and Alkuraya, Fowzan S. and Arias, Pedro and Bernardini, Laura and Bijlsma, Emilia K. and Cole, Trevor and Coubes, Christine and Dapia, Irene and Davies, Sally and Di Donato, Nataliya and Elcioglu, Nursel H. and Fahrner, Jill A. and Foster, Alison and González, Noelia García and Huber, Ilka and Iascone, Maria and Kaiser, Ann-Sophie and Kamath, Arveen and Liebelt, Jan and Lynch, Sally Ann and Maas, Saskia M. and Mammì, Corrado and Mathijssen, Inge B. and McKee, Shane and Menke, Leonie A. and Mirzaa, Ghayda M. and Montgomery, Tara and Neubauer, Dorothee and Neumann, Thomas E. and Pintomalli, Letizia and Pisanti, Maria Antonietta and Plomp, Astrid S. and Price, Sue and Salter, Claire and Santos‐Simarro, Fernando and Sarda, Pierre and Segovia, Mabel and Shaw‐Smith, Charles and Smithson, Sarah and Suri, Mohnish and Valdez, Rita Maria and Haeringen, Arie Van and Hagen, Johanna M. Van and Zollino, Marcela and Lapunzina, Pablo and Thakker, Rajesh V. and Zenker, Martin and Hennekam, Raoul C.},
  title={Further delineation of Malan syndrome},
  year={2018},
  pages={1226-1237},
  language={eng},
  issn={1098-1004},
  volume={39},
  number={9},
  journal={Human mutation},
  doi={10.1002/humu.23563},
}