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Zeitschriftenartikel
Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Angeles Garcia; Jang, Se Song; Julia-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Cali, Tito; Brini, Marisa und Zech, Michael
(2023):
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
In: Genetics in Medicine, Bd. 25, Nr. 12, 100971
Baker, Kate; Gordon, Sarah L.; Melland, Holly; Bumbak, Fabian; Scott, Daniel J.; Jiang, Tess J.; Owen, David; Turner, Bradley J.; Boyd, Stewart G.; Rossi, Mari; Al-Raqad, Mohammed; Elpeleg, Orly; Peck, Dawn; Mancini, Grazia M. S.; Wilke, Martina; Zollino, Marcella; Marangi, Giuseppe; Weigand, Heike; Borggraefe, Ingo; Haack, Tobias; Stark, Zornitza; Sadedin, Simon; Tan, Tiong Yang; Jiang, Yunyun; Gibbs, Richard A.; Ellingwood, Sara; Amaral, Michelle; Kelley, Whitley; Kurian, Manju A.; Cousin, Michael A. und Raymond, F. Lucy
(2018):
SYT1-associated neurodevelopmental disorder: a case series.
In: Brain, Bd. 141: S. 2576-2591