Khaldia Belabbas

PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial Hypobetalipoproteinemia

M. Krempf, R. Guérois, C. Langhi, 2009, Arteriosclerosis, thrombosis, and vascular biology.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

N. Winer, C. Bénéteau, S. Mercier, 2018, European Journal of Human Genetics.

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

R. Wintjens, A. Cohen, D. Bozon, 2016, Journal of Lipid Research.

Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations.

V. Rigalleau, C. Ged, T. Couffinhal, 2022, Journal of clinical lipidology.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome

N. Winer, C. Bénéteau, S. Mercier, 2018, European Journal of Human Genetics.