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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
Article
International Collaboration
Overview
Research
Additional Document Info
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Overview
author list
Liang, Lina; Li, Xia; Moutton, Sebastien; Vergano, Samantha A. Schrier; Cogne, Benjamin; Saint-Martin, de Anne; Hurst, Anna C. E.; Hu, Yushuang; Bodamer, Olaf; Thevenon, Julien; Hung, Christina Y.; Isidor, Bertrand; Gerard, Benedicte; Rega, Adelaide; Nambot, Sophie; Lehalle, Daphne; Duffourd, Yannis; Thauvin-Robinet, Christel; Faivre, Laurence; Bezieau, Stephane; Dure, Leon S.; Helbling, Daniel C.; Bick, David; Xu, Chengqi; Chen, Qiuyun; Mancini, Grazia M. S.; Vitobello, Antonio; Wang, Qing Kenneth
publication date
September 1, 2019
webpage
Web of Science
published in
HUMAN MOLECULAR GENETICS
Journal
Research
category
GENETICS & HEREDITY
Web of Science Category
Additional Document Info
start page
2937
end page
2951
volume
28
issue
17