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Circulation. Genomic and Precision Medicine|November 9, 2020
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A FamiliesYanushi D Wijeyeratne, Michael W Tanck, Yuka Mizusawa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizuresMariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Nature Communications|August 7, 2024
Human genetic structure in Northwest France provides new insights into West European historical demographyIsabel Alves, Joanna Giemza, Michael G B Blum, et al.
The New England Journal of Medicine|April 30, 2025
Identification of Hepatic-like EPO as a Cause of PolycythemiaLaurent Martin, Darko Maric, Salam Idriss, et al.
Circulation. Genomic and Precision Medicine|May 13, 2022
Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International StudyMarine Tortigue, Lynne E Nield, Matilde Karakachoff, et al.
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