Detalhe da pesquisa
1.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833328
2.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942287
3.
Bias in patient series with VACTERL association.
Am J Med Genet A
; 155A(8): 2039-41; author reply 2042-3, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21739573
4.
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.
Clin Dysmorphol
; 21(4): 191-195, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22895008