Detalhe da pesquisa
1.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
2.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genet Med
; 23(9): 1624-1635, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040189
3.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Genet Med
; 23(6): 1050-1057, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495529
4.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
5.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Am J Hum Genet
; 100(1): 91-104, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939640
6.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
J Med Genet
; 55(8): 561-566, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866611
7.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Nat Commun
; 12(1): 2558, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963192
8.
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Orphanet J Rare Dis
; 16(1): 136, 2021 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33736665
9.
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Cold Spring Harb Mol Case Stud
; 3(6)2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29162653