Detalhe da pesquisa
1.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
J Med Genet
; 61(3): 289-293, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833060
2.
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Eur J Hum Genet
; 31(10): 1190-1194, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558808