Detalhe da pesquisa
1.
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
J Lipid Res
; 57(3): 482-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26802169
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
3.
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol
; 29(12): 2191-7, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19762784
4.
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Eur J Hum Genet
; 26(12): 1784-1790, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30135486