Detalhe da pesquisa
1.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Genet Med
; 23(10): 1933-1943, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172899
2.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
J Med Genet
; 56(5): 332-339, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30487245
3.
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
Am J Med Genet A
; 170(3): 615-21, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581570