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1.
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
Eur J Hum Genet
; 29(9): 1384-1395, 2021 09.
Article
in English
| MEDLINE | ID: mdl-33594261
2.
Extreme phenotypes of Loeys Dietz syndrome.
Clin Dysmorphol
; 26(2): 91-94, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28225382
3.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Nat Genet
; 44(7): 793-6, 2012 May 18.
Article
in English
| MEDLINE | ID: mdl-22610116
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