The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
- Creator: Furia, Francesca , Levy, Amanda M. , Dean, Sarah Joy , Egense, Alena , Goel, Himanshu , Guenzel, Adam J. , Hüffmeier, Ulrike , Legius, Eric , Mancini, Grazia M. S. , Marcos-Alcalde, Iñigo , Niclass, Tanguy , Planes, Marc , Theunis, Miel , Redon, Sylvia , Ros-Pardo, D , Rouault, K , Schot, R , Schuhmann, S , Shen, JJ , Tao, AM , Thiffault, I , Van Esch, H , Wentzensen, IM , Bamshad, Michael J. , Barakat, TS , Møller, RS , Gomez-Puertas, P , Chung, WK , Gardella, E , Tümer, Z , Bartos, Meghan N. , Bijlsma, Emilia K. , Brancati, Francesco , Cejudo, Lucile , Chong, Jessica X. , De Luca, Chiara
- Resource Type: journal article
- Date: 2024
Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures
- Creator: Petrovski, Slavé , Kury, Sébastien , Besnard, Thomas , Becraft, Emily , Wadley, Alexandrea , Politi, Anya Revah , Colombo, Sophie , Zhu, Xiaolin , Ren, Zhong , Andrews, Ian , Dudding-Byth, Tracy , Schneider, Amy L. , Myers, Candace T. , Anyane-Yeboa, Kwame , Cogné, Benjamin , Bialer, Martin , Xia, Fan , Hemati, Parisa , Riviello, James , Mehaffey, Michele
- Resource Type: journal article
- Date: 2016