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Human Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.Bioorganic & Medicinal Chemistry Letters|February 5, 2008
Novel HCV NS5B polymerase inhibitors derived from 4-(1',1'-dioxo-1',4'-dihydro-1'lambda6-benzo[1',2',4']thiadiazin-3'-yl)-5-hydroxy-2H-pyridazin-3-ones. Part 1: exploration of 7'-substitution of benzothiadiazineYuefen Zhou, Stephen E Webber, Douglas E Murphy, et al.Plos Genetics|May 8, 2015
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesDennis Lal, Ann-Kathrin Ruppert, Holger Trucks, et al.Neurology|July 2, 2017
DNM1 encephalopathy: A new disease of vesicle fissionSarah von Spiczak, Katherine L Helbig, Deepali N Shinde, et al.Nature Genetics|January 13, 2009
15q13.3 microdeletions increase risk of idiopathic generalized epilepsyIngo Helbig, Heather C Mefford, Andrew J Sharp, et al.Brain : a Journal of Neurology|October 22, 2009
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesCarolien G F de Kovel, Holger Trucks, Ingo Helbig, et al.Epilepsy & Behavior : E&B|June 13, 2013
Consensus on diagnosis and management of JME: From founder's observations to current trendsDorothée G A Kasteleijn-Nolst Trenité, Bettina Schmitz, Dieter Janz, et al.Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.Zeitschrift Fur Gerontologie Und Geriatrie|May 21, 2020
Neurogeriatrics-a vision for improved care and research for geriatric patients with predominating neurological disabilitiesAndreas H Jacobs, Kirsten Emmert, Ralf Baron, et al.Brain : a Journal of Neurology|March 19, 2015
CHD2 variants are a risk factor for photosensitivity in epilepsyElizabeth C Galizia, Candace T Myers, Costin Leu, et al.Pageof 29