Detalhe da pesquisa
1.
Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.
Am J Med Genet A
; : e63641, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725242
2.
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Orphanet J Rare Dis
; 17(1): 29, 2022 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101074
3.
Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Cells
; 10(12)2021 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34943989