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Circulation|October 10, 2018
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)Carolyn Y Ho, Sharlene M Day, Euan A Ashley, et al.Journal of the American Society of Nephrology : JASN|October 6, 2023
Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney DiseaseAdriana M Hung, Victoria A Assimon, Hua-Chang Chen, et al.Nature|February 24, 2022
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13AX Rosa Ma, Mercedes Prudencio, Yuka Koike, et al.Science Translational Medicine|January 17, 2024
Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disordersJulie C Ullman, Kevin T Mellem, Yannan Xi, et al.Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.Nature|January 18, 2023
FinnGen provides genetic insights from a well-phenotyped isolated populationMitja I Kurki, Juha Karjalainen, Priit Palta, et al.Pageof 5