Detalhe da pesquisa
1.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220674
2.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
; 55(1): 28-38, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021403
3.
A short-sighted approach to high myopia-not just an eye problem.
J AAPOS
; 25(4): 247-248, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34166818
4.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Nat Genet
; 48(9): 1060-5, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27479907