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American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.Seizure|June 17, 2015
Clinical and genetic analysis of a family with two rare reflex epilepsiesDorothée G A Kasteleijn-Nolst Trenité, Linda Volkers, Eric Strengman, et al.Ebiomedicine|October 27, 2015
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in EpilepsyCostin Leu, Simona Balestrini, Bridget Maher, et al.Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|April 9, 2020
Parental health spillover effects of paediatric rare genetic conditionsYou Wu, Hareth Al-Janabi, Andrew Mallett, et al.Acta Epileptologica|April 11, 2025
Exploring physiological beta-hydroxybutyrate level in children treated with the classical ketogenic diet for drug-resistant epilepsyXiaoying Qiao, Zimeng Ye, Jialun Wen, et al.Neurology|October 15, 2021
Association of Short-term Heart Rate Variability and Sudden Unexpected Death in EpilepsyShobi Sivathamboo, Daniel Friedman, Juliana Laze, et al.Epilepsia|October 24, 2020
Anterior temporal encephaloceles: Elusive, important, and rewarding to treatGabrielle T Tse, Aviva S Frydman, Marie F O'Shea, et al.Journal of Paediatrics and Child Health|April 25, 2020
Neuronal ceroid lipofuscinosis type 2: an Australian case seriesAlexandra M Johnson, Simone Mandelstam, Ian Andrews, et al.Bioresearch Open Access|March 22, 2013
Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient SubjectsKurt Gleich, Michael J Desmond, Darren Lee, et al.European Journal of Human Genetics : EJHG|March 16, 2017
Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsyLisa J Ewans, Michael Field, Ying Zhu, et al.Pageof 74