@article{UBHD-69253571,
  author={Hammann, Nicole Irene and Lenz, Dominic and Baric, Ivo and Crushell, Ellen and Vici, Carlo Dionisi and Distelmaier, Felix and Feillet, Francois and Freisinger, Peter and Hempel, Maja and Khoreva, Anna L. and Laass, Martin W. and Lacassie, Yves and Lainka, Elke and Larson-Nath, Catherine and Li, Zhongdie and Lipiński, Patryk and Lurz, Eberhard and Mégarbané, André and Nobre, Susana and Olivieri, Giorgia and Peters, Bianca and Prontera, Paolo and Schlieben, Lea D. and Seroogy, Christine M. and Sobacchi, Cristina and Suzuki, Shigeru and Tran, Christel and Vockley, Jerry and Wang, Jian-She and Wagner, Matias and Prokisch, Holger and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian},
  title={Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease},
  year={2024},
  pages={1-10},
  language={eng},
  issn={1096-7206},
  volume={141},
  note={Online verf{\"u}gbar: 11. Januar 2024, Artikelversion: 19. Januar 2024 ; Gesehen am 16.09.2024},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2023.108118},
}
@article{UBHD-69241271,
  author={Lenz, Dominic and Schlieben, Lea D. and Shimura, Masaru and Bianzano, Alyssa and Smirnov, Dmitrii and Kopajtich, Robert and Berutti, Riccardo and Adam, R{\"u}diger and Aldrian, Denise and Baric, Ivo and Baumann, Ulrich and Bozbulut, Neslihan E. and Brugger, Melanie and Brunet, Theresa and Bufler, Philip and Burnytė, Birutė and Calvo, Pier L. and Crushell, Ellen and Dalgiç, Buket and Das, Anibh M. and Dezsőfi, Antal and Distelmaier, Felix and Fichtner, Alexander and Freisinger, Peter and Garbade, Sven and Gaspar, Harald and Goujon, Louise and Hadzic, Nedim and Hartleif, Steffen and Hegen, Bianca and Hempel, Maja and Henning, Stephan and Hoerning, Andre and Houwen, Roderick and Hughes, Joanne and Iorio, Raffaele and Iwanicka-Pronicka, Katarzyna and Jankofsky, Martin and Junge, Norman and Kanavaki, Ino and Kansu, Aydan and Kaspar, Sonja and Kathemann, Simone and Kelly, Deidre and Kirsaçlioğlu, Ceyda T. and Knoppke, Birgit and Kohl, Martina and K{\"o}lbel, Heike and K{\"o}lker, Stefan and Konstantopoulou, Vassiliki and Krylova, Tatiana and Kuloğlu, Zarife and Kuster, Alice and Laass, Martin W. and Lainka, Elke and Lurz, Eberhard and Mandel, Hanna and Mayerhanser, Katharina and Mayr, Johannes A. and McKiernan, Patrick and McClean, Patricia and McLin, Valerie and Mention, Karine and M{\"u}ller, Hanna and Pasquier, Laurent and Pavlov, Martin and Pechatnikova, Natalia and Peters, Bianca and Petković Ramadža, Danijela and Piekutowska-Abramczuk, Dorota and Pilic, Denisa and Rajwal, Sanjay and Rock, Nathalie and Roetig, Agnès and Santer, René and Schenk, Wilfried and Semenova, Natalia and Sokollik, Christiane and Sturm, Ekkehard and Taylor, Robert W. and Tschiedel, Eva and Urbonas, Vaidotas and Urreizti, Roser and Vermehren, Jan and Vockley, Jerry and Vogel, Georg-Friedrich and Wagner, Matias and van der Woerd, Wendy and Wortmann, Saskia B. and Zakharova, Ekaterina and Hoffmann, Georg F. and Meitinger, Thomas and Murayama, Kei and Staufner, Christian and Prokisch, Holger},
  title={Genetic landscape of pediatric acute liver failure of indeterminate origin},
  year={2024},
  pages={1075-1087},
  language={eng},
  issn={1527-3350},
  volume={79},
  number={5 vom: Mai},
  note={Gesehen am 07.08.2024},
  journal={Hepatology},
  doi={10.1097/HEP.0000000000000684},
}
@article{UBHD-69114527,
  author={Lenz, Dominic and Pahl, Jens and Hauck, Fabian and Alameer, Seham and Balasubramanian, Meena and Baric, Ivo and Boy, Nikolas and Church, Joseph A. and Crushell, Ellen and Dick, Anke and Distelmaier, Felix and Gujar, Jidnyasa and Indolfi, Giuseppe and Lurz, Eberhard and Peters, Bianca and Schwerd, Tobias and Serranti, Daniele and K{\"o}lker, Stefan and Klein, Christoph and Hoffmann, Georg F. and Prokisch, Holger and Greil, Johann and Cerwenka, Adelheid and Giese, Thomas and Staufner, Christian},
  title={NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency},
  year={2021},
  pages={1781-1793},
  language={eng},
  issn={1573-2592},
  volume={41},
  number={8},
  note={Gesehen am 21.08.2023},
  journal={Journal of clinical immunology},
  doi={10.1007/s10875-021-01110-7},
  url={https://doi.org/10.1007/s10875-021-01110-7},
  library={UB},
}
@article{UBHD-69272869,
  author={Peters, Bianca and Dattner, Tal and Schlieben, Lea D. and Sun, Tian and Staufner, Christian and Lenz, Dominic},
  title={Disorders of vesicular trafficking presenting with recurrent acute liver failure},
  subtitle={NBAS, RINT1, and SCYL1 deficiency},
  year={2024},
  pages={1-13},
  language={eng},
  issn={1573-2665},
  volume={48},
  note={Gesehen am 12.11.2024 ; Online ver{\"o}ffentlicht: 27 January 2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12707},
}
@book{UBHD-68915615,
  author={Peters, Bianca},
  organization={Universit{\"a}t Heidelberg},
  title={Klinischer Ph{\"a}notyp und Genotyp-Ph{\"a}notyp-Assoziation der NBAS-Defizienz},
  address={Heidelberg},
  year={2021},
  pages={IV, 110 Bl{\"a}tter},
  language={ger},
  school={Dissertation,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2022},
  library={UB [Signatur: 2022 U 452]},
}