1. MG-115 Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel. (4th December 2015) Authors: van Karnebeek, Clara DM; Ye, X Cynthia; Abdelsayed, Mena; Selby, Katherine; Zhang, Linhua; Chijiwa, Chieko; Hendson, Glenda; Sayson, Bryan; Gill, Harinder; Balicki, Martha; Eydoux, Patrice; Ross, Colin J; Vallance, Hilary; Wasserman, Wyeth; Ruben, Peter; Lewis, Suzanne ME Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MG-118 Towards understanding phenotypic variability using exome sequencing. (4th December 2015) Authors: Qiao, Ying; Tang, Flamingo; Martell, Sally; Badduke, Chansonette; Cowieson, David; Chow, Eva; Marles, Sandra; Lewis, Suzanne ME; Volchuk, Allen; Rajcan-Separovic, Evica Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MG-138 Co-occurrence of cohen syndrome with 16p11.2 duplication: The exome sequencing approach. (4th December 2015) Authors: Dastan, Jila; Tang, Flamingo; Qiao, Ying; Chijiwa, Chieko; Calli, Kristina; Rajcan-Separovic, Evica; Lewis, Suzanne ME Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗