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1.
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Am J Med Genet A
; 173(10): 2763-2771, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28777491
2.
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
Am J Med Genet A
; 158A(1): 166-73, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22106008
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
4.
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
Nat Genet
; 41(8): 862-3, 2009 Aug.
Article
in English
| MEDLINE | ID: mdl-19639023
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