Showing results (221-230 of 330) with videos related to
Sort By:
Pageof 33
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individualsPeter D Galer, Shridhar Parthasarathy, Julie Xian, et al.Science Translational Medicine|July 17, 2024
Vasohibin inhibition improves myocardial relaxation in a rat model of heart failure with preserved ejection fractionDeborah M Eaton, Benjamin W Lee, Matthew A Caporizzo, et al.European Journal of Human Genetics : EJHG|November 28, 2013
Structural genomic variation in childhood epilepsies with complex phenotypesIngo Helbig, Marielle E M Swinkels, Emmelien Aten, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.Neurology|September 2, 2018
The phenotype of SCN8A developmental and epileptic encephalopathyElena Gardella, Carla Marini, Marina Trivisano, et al.Nature|July 6, 2022
Molecular landscapes of human hippocampal immature neurons across lifespanYi Zhou, Yijing Su, Shiying Li, et al.Journal of Medical Genetics|July 31, 2017
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsiesEduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, et al.Human Genetics|July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|July 21, 2016
Idiopathic focal epilepsies: the "lost tribe"Deb K Pal, Colin Ferrie, Laura Addis, et al.Science Advances|April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretationRobert Wang, Feng Wang, Nicole DeBruyne, et al.Pageof 33