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Genetic Epidemiology|November 24, 2006
Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity lociDalila Pinto, Dorothée G A Kasteleijn-Nolst Trenité, Heather J Cordell, et al.Epilepsy Research|July 30, 2015
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsyBianca Berghuis, Carolien G F de Kovel, Loretta van Iterson, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|July 1, 2009
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancyElisabeth Siti Herini, Gunadi, Marjan J A van Kempen, et al.Plos One|June 14, 2013
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort studyNienke E Verbeek, Nicoline A T van der Maas, Floor E Jansen, et al.The Journal of General Physiology|November 27, 2013
Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiationLinda Volkers, Kristopher M Kahlig, Joost H G Das, et al.Clinical Dysmorphology|April 30, 2011
Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfallsHester Y Kroes, Ron Hochstenbach, Rutger A J Nievelstein, et al.European Journal of Human Genetics : EJHG|October 16, 2004
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutationsKirsi Alakurtti, Ekkehard Weber, Riitta Rinne, et al.American Journal of Medical Genetics. Part A|October 3, 2008
Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasiaTom G W Letteboer, Hans-Jurgen Mager, Repke J Snijder, et al.Epilepsia|October 24, 2006
Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch familiesDalila Pinto, Sandrien Louwaars, Birgit Westland, et al.Journal of Medical Genetics|May 15, 2012
Mutations in WNT10A are present in more than half of isolated hypodontia casesMarie-José van den Boogaard, Marijn Créton, Yvon Bronkhorst, et al.Pageof 8