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Investigative Ophthalmology & Visual Science|January 1, 2010
Genotypic influences on severity of exudative age-related macular degenerationNicolas Leveziel, Nathalie Puche, Florence Richard, et al.Human Genetics|November 19, 2002
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemiaSabine Amsellem, Dorothée Briffaut, Alain Carrié, et al.Human Mutation|October 8, 2005
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemiaDelphine Allard, Sabine Amsellem, Marianne Abifadel, et al.Nutrients|October 23, 2021
The ALGOVUE Clinical Trial: Effects of the Daily Consumption of Eggs Enriched with Lutein and Docosahexaenoic Acid on Plasma Composition and Macular Pigment Optical DensityCoralie Schnebelen-Berthier, Niyazi Acar, Emilie Simon, et al.Arteriosclerosis, Thrombosis, and Vascular Biology|September 19, 2009
PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemiaBertrand Cariou, Khadija Ouguerram, Yassine Zaïr, et al.European Journal of Medical Genetics|January 10, 2012
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndromeChloé Quélin, Philippe Loget, Alain Verloes, et al.Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.Human Mutation|October 13, 2018
ClinVar database of global familial hypercholesterolemia-associated DNA variantsMichael A Iacocca, Joana R Chora, Alain Carrié, et al.Ophthalmology|October 14, 2018
Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology ConsortiaJohanna M Colijn, Anneke I den Hollander, Ayse Demirkan, et al.Annales D'Endocrinologie|May 8, 2026
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditionsLaurence Faivre, Camille Level, Régis Coutant, et al.Pageof 4