Showing results (61-70 of 74) with videos related to
Sort By:
Pageof 8
Human Mutation|October 13, 2018
ClinVar database of global familial hypercholesterolemia-associated DNA variantsMichael A Iacocca, Joana R Chora, Alain Carrié, et al.European Heart Journal|May 25, 2026
Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statementAlbert Wiegman, Mafalda Bourbon, Tomas Freiberger, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classificationJoana R Chora, Michael A Iacocca, Lukáš Tichý, et al.GMS Health Innovation and Technologies|October 31, 2022
The time is now: Achieving FH paediatric screening across Europe - The Prague DeclarationNicole Bedlington, Marianne Abifadel, Birgit Beger, et al.Journal of Clinical Lipidology|October 23, 2025
Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysisAna Catarina Alves, Joana Rita Chora, Beatriz Miranda, et al.Arteriosclerosis, Thrombosis, and Vascular Biology|August 8, 2020
Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in IberoamericaAna Catarina Alves, Rodrigo Alonso, José Luís Diaz-Diaz, et al.Circulation. Cardiovascular Genetics|September 17, 2015
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal AntibodyPaul N Hopkins, Joep Defesche, Sigrid W Fouchier, et al.Science (New York, N.Y.)|October 30, 2025
The functional landscape of coding variation in the familial hypercholesterolemia gene <i>LDLR</i>Daniel R Tabet, Atina G Coté, Megan C Lancaster, et al.Journal of the American College of Cardiology|August 4, 2018
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert PanelAmy C Sturm, Joshua W Knowles, Samuel S Gidding, et al.Journal of the American Heart Association|April 29, 2023
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH RegistryMarina Cuchel, Paul C Lee, Lisa C Hudgins, et al.Pageof 8