Detalhe da pesquisa
1.
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Mol Genet Metab
; 142(3): 108508, 2024 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38820906
2.
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Am J Med Genet A
; 188(12): 3432-3447, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36367278
3.
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
Hum Mutat
; 41(9): 1645-1661, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32623794
4.
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Eur J Hum Genet
; 26(1): 85-93, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29184170