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Author/Creator Ruben, Peter

1. Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. Issue 11 (12th September 2017)

Authors:
Thibodeau, My Linh; Peters, Colin H.; Townsend, Katelin N.; Shen, Yaoqing; Hendson, Glenda; Adam, Shelin; Selby, Kathryn; Macleod, Patrick M.; Gershome, Cynthia; Ruben, Peter; Jones, Steven J. M.; Friedman, Jan M.; Gibson, William T.; Horvath, Gabriella A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 11(2017)
Page Start:
3087
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy. Issue 11 (12th September 2017)

Authors:
Thibodeau, My Linh; Peters, Colin H.; Townsend, Katelin N.; Shen, Yaoqing; Hendson, Glenda; Adam, Shelin; Selby, Kathryn; Macleod, Patrick M.; Gershome, Cynthia; Ruben, Peter; Jones, Steven J. M.; Friedman, Jan M.; Gibson, William T.; Horvath, Gabriella A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 11(2017)
Page Start:
3087
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. 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) ↗