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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.
The New England Journal of Medicine|May 26, 2026
In Vivo Base Editing of PCSK9 with VERVE-102 for HypercholesterolemiaScott B Vafai, Jörg Täubel, Thomas Ashdown, et al.
Nature Communications|September 23, 2017
Establishing multiple omics baselines for three Southeast Asian populations in the Singapore Integrative Omics StudyWoei-Yuh Saw, Erwin Tantoso, Husna Begum, et al.
Mbio|February 10, 2011
Genome variation in Cryptococcus gattii, an emerging pathogen of immunocompetent hostsC A D'Souza, J W Kronstad, G Taylor, et al.
European Journal of Preventive Cardiology|May 14, 2026
Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registryJoana Rita Chora, Irene Karungi, Amany Elshorbagy, et al.
European Heart Journal|January 13, 2025
Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registryAmany Elshorbagy, Antonio J Vallejo-Vaz, Fotios Barkas, et al.
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