Detalhe da pesquisa
1.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Am J Hum Genet
; 110(6): 998-1007, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207645
2.
Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations.
J Clin Lipidol
; 16(3): 298-305, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379577