학술논문
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Document Type
Journal
Author
Usmani, Muhammad A.; Ahmed, Zubair M.; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J.; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C.; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A.; Lee, Hane; Colao, Emma; Motazacker, M. Mahdi; Brigatti, Karlla W.; Puffenberger, Erik G.; Riazuddin, S. Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K.; Wagner, Matias; Schultz, Matthew J.; Seri, Marco; Kievit, Anneke J. A.; Perrotti, Nicola; Wassink-Ruiter, J. S. Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima; UCLA Clinical Genomics Ctr
Source
Subject
Language
English
ISSN
15376605