Kolexia
Rabes Jean-Pierre
Biologie médicale
Hôpital Ambroise Paré
Boulogne-Billancourt, France
71 Activités
0 Followers

Scientifique
Digital
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Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Hypercholestérolémie Hyperlipoprotéinémie de type II Prédisposition génétique à une maladie Dyslipidémies Maladie des artères coronaires Maladie de Fabry Maladies génétiques congénitales Genetic Risk Score Maladie coronarienne

Industries

Ultragenyx
9 collaboration(s)
Dernière en 2023
Sanofi
3 collaboration(s)
Dernière en 2020
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Dernières activités

Corrigendum to "APOE gene variants in primary dyslipidemia" Atherosclerosis (2021 Jul) 328 11-22.
Atherosclerosis   06 novembre 2023
Involvement of U2-spliceosome in autosomal dominant hypercholesterolemia
EAS Abstracts 2023   01 août 2023
Additive effect of APOE rare variants on the phenotype of familial hypercholesterolemia
EAS Abstracts 2023   01 août 2023
Effect of causative genetic variants on atherosclerotic cardiovascular disease in heterozygous familial hypercholesterolemia patients.
Frontiers in cardiovascular medicine   19 juillet 2023
Whole exome/genome sequencing joint analysis in a family with oligogenic familial hypercholesterolemia
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Interpreting the pathogenicity of genetic variants in rare diseases: lessons from Fabry disease
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
APOE molecular spectrum in a French cohort with primary dyslipidemia
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Additive Effect of Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Arteriosclerosis, thrombosis, and vascular biology   27 avril 2023
Whole exome/genome sequencing joint analysis in a family with oligogenic familial hypercholesterolemia
Atherosclerosis   01 août 2022
Molecular Spectrum in a French Cohort with Primary Dyslipidemia.
International journal of molecular sciences   21 mai 2022