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Nature Cardiovascular Research|February 13, 2023
Integrated landscape of cardiac metabolism in end-stage human nonischemic dilated cardiomyopathyEmily Flam, Cholsoon Jang, Danielle Murashige, et al.Science Translational Medicine|December 10, 2025
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disordersErkin Kurganov, Lei Cui, Nikita Budnik, et al.Human Molecular Genetics|July 14, 2009
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritanceLeanne M Dibbens, Saul Mullen, Ingo Helbig, et al.Brain : a Journal of Neurology|November 20, 2016
De novo GABRG2 mutations associated with epileptic encephalopathiesDingding Shen, Ciria C Hernandez, Wangzhen Shen, et al.The Journal of Cell Biology|March 27, 2026
The cytoskeleton contributes to abnormal genome-lamina interactions in LMNA-deficient cardiomyocytesKaitlyn M Shen, Emily J Shields, Vasia Barka, et al.Nature Communications|May 6, 2023
Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switchingJennine M Dawicki-McKenna, Alex J Felix, Elisa A Waxman, et al.Epilepsia|January 6, 2011
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsyHiltrud Muhle, Ines Steinich, Sarah von Spiczak, et al.American Journal of Medical Genetics. Part A|July 9, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 DeletionsRussell Gear, Paul Kalitsis, Melissa Glass, et al.Epilepsy Research|August 9, 2019
Genetic heterogeneity in infantile spasmsAlison M Muir, Candace T Myers, Nancy T Nguyen, et al.Brain : a Journal of Neurology|November 28, 2023
Delineating clinical and developmental outcomes in STXBP1-related disordersJulie Xian, Kim Marie Thalwitzer, Jillian McKee, et al.Pageof 33