Concepedia

Marianne Stef

MS

Statistics

Publications

15

Citations

816

H-Index

15

Active since

2000

Affiliations

University of the Basque Country(Current)

Hospital Universitario Miguel Servet

Grifols (Spain)

Instituto Aragonés de Ciencias de la Salud

University of Amsterdam

Marianne Stef is an author at University of the Basque Country specializing in genetics, medicine, and genetic epidemiology.

Top concepts

Publications per year

2000–2020

15

Publications

15

Molecular characterization of familial hypercholesterolemia in Spain

Lourdes Palacios, Laura Grandoso, Nerea Cuevas et al. · Atherosclerosis · 2011 · 117 citations

, , +8

The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes

Ana Cenarro, Aitor Etxebarria, Isabel de Castro-Orós et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 96 citations · Full text

Profiling candidate genes involved in wax biosynthesis in Arabidopsis thaliana by microarray analysis

Patricia Costaglioli, Jérôme Joubès, Christel Garcia et al. · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2005 · 91 citations

, , +12

Homozygous Familial Hypercholesterolemia in Spain

Rosa M. Sánchez-Hernández, Fernando Civeira, Marianne Stef et al. · Circulation Cardiovascular Genetics · 2016 · 71 citations · Full text

Genetic diagnosis of familial hypercholesterolaemia by targeted next‐generation sequencing

Cristina Maglio, Rosellina Margherita Mancina, Benedetta Maria Motta et al. · Journal of Internal Medicine · 2014 · 60 citations · Full text

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