Search

Author/Creator Abdelsayed, Mena

4. 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) ↗

5. SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups. (27th July 2018)

Authors:
Baruteau, Alban-Elouen; Kyndt, Florence; Behr, Elijah R; Vink, Arja S; Lachaud, Matthias; Joong, Anna; Schott, Jean-Jacques; Horie, Minoru; Denjoy, Isabelle; Crotti, Lia; Shimizu, Wataru; Bos, Johan M; Stephenson, Elizabeth A; Wong, Leonie; Abrams, Dominic J; Davis, Andrew M; Winbo, Annika; Dubin...
Journal:
European heart journal
Issue:
Volume 39:Number 31(2018)
Page Start:
2879
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗