학술논문
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Document Type
Article
Author
Kurolap, A.; Baris Feldman, H.; Ilivitzki, A.; Soudry, S.; Kreuder, F.; Douek, A.M.; Colquhoun, D.; Kaslin, J.; Gonzaga-Jauregui, C.; Duvdevani, M.P.; Harel, T.; Meiner, V.; Elpeleg, O.; Tammer, L.; Ast, G.; Xin, B.; Sency, V.; Wang, H.; Bakhtiari, S.; Kruer, M.C.; Rice, J.; van Eyk, C.L.; Gecz, J.; Mah, J.K.; Innes, A.M.; Atkinson, D.; Jordanova, A.; Cope, H.; Sullivan, J.A.; Shashi, V.; Henry, J.; Wlodkowic, D.; Parman, Y.; Candayan, A.; Battaloğlu, E.; Kocasoy-Orhan, E.; Leibu, R.; Glaser, F.; Fahey, M.C.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 March 2022, 109(3):518-532)
Subject
Language
English
ISSN
15376605
00029297
00029297