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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 2
2021
Li, Dong; Wang, Qin; Gong, Naihua N.; Kurolap, Alina; Feldman, Hagit Baris; Boy, Nikolas; Brugger, Melanie; Grand, Katheryn; McWalter, Kirsty; Sacoto, Maria J. Guillen; Wakeling, Emma; Hurst, Jane; March, Michael E.; Bhoj, Elizabeth J.; Nowaczyk, Malgorzata J. M.; Gonzaga-Jauregui, Claudia; Mathew, Mariam; Dava-Wala, Ashita; Siemon, Amy; Bartholomew, Dennis; Huang, Yue; Lee, Hane; Martinez-Agosto, Julian A.; Schwaibold, Eva M. C.; Brunet, Theresa; Choukair, Daniela; Pais, Lynn S.; White, Susan M.; Christodoulou, John; Brown, Dana; Lindstrom, Kristin; Grebe, Theresa; Tiosano, Dov; Kayser, Matthew S.; Tan, Tiong Yang; Deardorff, Matthew A.; Song, Yuanquan und Hakonarson, Hakon
(2021):
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
In: Science Advances, Bd. 7, Nr. 20, eabf2066
2018
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