دورية أكاديمية

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

التفاصيل البيبلوغرافية
العنوان: ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
المؤلفون: Poggio, Elena, Barazzuol, Lucia, Salmaso, Andrea, Milani, Celeste, Deligiannopoulou, Adamantia, Cazorla, Ángeles García, Jang, Se Song, Juliá-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, Calì, Tito, Brini, Marisa, Zech, Michael
المصدر: In Genetics in Medicine December 2023 25(12)
قاعدة البيانات: ScienceDirect
الوصف
تدمد:10983600
DOI:10.1016/j.gim.2023.100971