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Genetics in Medicine Open|June 3, 2024
Clinical variants in <i>Caenorhabditis elegans</i> expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significanceChristopher E Hopkins, Kathryn McCormick, Trisha Brock, et al.Medrxiv : the Preprint Server for Health Sciences|July 10, 2026
Monogenic epilepsies exhibit distinct sleep endophenotypesKatharina S Bochtler, Alexander I Batterman, Hyun Yong Koh, et al.Circulation Research|December 12, 2019
A Balance Between Intermediate Filaments and Microtubules Maintains Nuclear Architecture in the CardiomyocyteJulie Heffler, Parisha P Shah, Patrick Robison, et al.Science (New York, N.Y.)|April 23, 2016
Detyrosinated microtubules buckle and bear load in contracting cardiomyocytesPatrick Robison, Matthew A Caporizzo, Hossein Ahmadzadeh, et al.Developmental Medicine and Child Neurology|May 20, 2024
Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID-19 pandemicMichael C Kaufman, Julie Xian, Peter D Galer, et al.Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|November 20, 2008
Obstetric events as a risk factor for febrile seizures: a community-based twin studyIngo Helbig, Kate M Lawrence, Mary M Connellan, et al.Proceedings of the National Academy of Sciences of the United States of America|January 9, 2024
A structurally precise mechanism links an epilepsy-associated <i>KCNC2</i> potassium channel mutation to interneuron dysfunctionJerome Clatot, Christopher B Currin, Qiansheng Liang, et al.American Journal of Physiology. Heart and Circulatory Physiology|August 11, 2023
Adult human cardiomyocyte mechanics in osteogenesis imperfectaBenjamin W Lee, Matthew A Caporizzo, Christina Y Chen, et al.Science Signaling|April 21, 2026
mTORC1 and nuclear ERK spatially control translation in cardiomyocytes through 4EBP1 phosphorylationKeita Uchida, Emily A Scarborough, Elizabeth Pruzinsky, et al.Journal of Child Neurology|November 22, 2013
Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plusHadassa Goldberg-Stern, Sharon Aharoni, Zaid Afawi, et al.Pageof 33