Joana R. Chora
Lisbon, Portugal
Last Updated: 09/26/2026
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Found 20 publications
The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.
Journal: Current atherosclerosis reports
Published: April 08, 2026
Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.
Journal: European journal of preventive cardiology
Published: October 30, 2025
Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.
Journal: Journal of clinical lipidology
Published: April 24, 2025
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Journal: Journal of the American Heart Association
Published: June 15, 2024
Advancements in risk stratification and management strategies in primary cardiovascular prevention.
Journal: Atherosclerosis
Published: March 20, 2024
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.
Journal: Journal of lipid research
Published: September 01, 2023
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.
Journal: Journal of clinical medicine
Published: June 28, 2023
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Journal: Journal of the American Heart Association
Published: April 29, 2023
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 24, 2021
Pharmacogenomics of statins and familial hypercholesterolemia.
Journal: Current opinion in lipidology
Published: February 16, 2021
Last Updated: 09/26/2026