@article{UBHD-69231106,
  author={Brunet, Theresa and Zott, Benedikt and Lieft{\"u}chter, Victoria and Lenz, Dominic and Schmidt, Axel and Peters, Philipp and Kopajtich, Robert and Zaddach, Malin and Zimmermann, Hanna and H{\"u}ning, Irina and Ballhausen, Diana and Staufner, Christian and Bianzano, Alyssa and Hughes, Joanne and Taylor, Robert W. and McFarland, Robert and Devlin, Anita and Mihaljević, Mihaela and Barišić, Nina and Rohlfs, Meino and Wilfling, Sibylle and Sondheimer, Neal and Hewson, Stacy and Marinakis, Nikolaos M. and Kosma, Konstantina and Traeger-Synodinos, Joanne and Elbracht, Miriam and Begemann, Matthias and Trepels-Kottek, Sonja and Hasan, Dimah and Scala, Marcello and Capra, Valeria and Zara, Federico and van der Ven, Amelie T. and Driemeyer, Joenna and Apitz, Christian and Kr{\"a}mer, Johannes and Strong, Alanna and Hakonarson, Hakon and Watson, Deborah and Mayr, Johannes A. and Prokisch, Holger and Meitinger, Thomas and Borggraefe, Ingo and Spiegler, Juliane and Baric, Ivo and Paolini, Marco and Gerstl, Lucia and Wagner, Matias},
  title={De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke},
  year={2024},
  pages={1-12},
  language={eng},
  issn={1530-0366},
  volume={26},
  note={Gesehen am 05.07.2024 ; Online verf{\"u}gbar 1 November 2023, Version des Artikels 19 December 2023},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2023.101013},
}
@article{UBHD-69294322,
  author={Hammann, Nicole Irene and Lenz, Dominic and Bianzano, Alyssa and Husain, Ralf A. and Forman, Eva and Bernstein, Jonathan A. and Dattner, Tal and Engelen, Marc and Hanson-Kahn, Andrea K. and Isidor, Bertrand and Kotzaeridou, Urania and Tietze, Anna and Trollmann, Regina and Weiß, Claudia and Wolffenbuttel, Bruce H. R. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Crushell, Ellen and Staufner, Christian and Mohr, Alexander and Harting, Inga},
  title={MRI in LARS1 deficiency},
  subtitle={spectrum, patterns, and correlation with acute neurological deterioration},
  year={2024},
  pages={1028-1046},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={5},
  note={Ver{\"o}ffentlicht: 01 July 2024 ; Gesehen am 27.01.2025},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12764},
}
@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},
}