Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
-
Published:2022-03
Issue:3
Volume:109
Page:518-532
-
ISSN:0002-9297
-
Container-title:The American Journal of Human Genetics
-
language:en
-
Short-container-title:The American Journal of Human Genetics
Author:
Kurolap AlinaORCID, Kreuder Florian, Gonzaga-Jauregui Claudia, Duvdevani Morasha Plesser, Harel Tamar, Tammer Luna, Xin Baozhong, Bakhtiari Somayeh, Rice James, van Eyk Clare L., Gecz Jozef, Mah Jean K., Atkinson Derek, Cope Heidi, Sullivan Jennifer A., Douek Alon M., Colquhoun Daniel, Henry Jason, Wlodkowic Donald, Parman Yesim, Candayan Ayşe, Kocasoy-Orhan Elif, Ilivitzki Anat, Soudry Shiri, Leibu Rina, Glaser Fabian, Sency Valerie, Ast Gil, Shashi Vandana, Fahey Michael C., Battaloğlu Esra, Jordanova Albena, Meiner Vardiella, Innes A. Micheil, Wang Heng, Elpeleg Orly, Kruer Michael C., Kaslin Jan, Baris Feldman Hagit
Subject
Genetics (clinical),Genetics
Cited by
11 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
|
|