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Human Mutation|June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsDuyen H Pham, Melissa R Pitman, Raman Kumar, et al.
Annals of Neurology|November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic EncephalopathyAnnie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 30, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformationIne Hoogwijs, Simone A Mandelstam, George McGillivray, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
Brain Communications|March 19, 2021
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brainZimeng Ye, Zac Chatterton, Jahnvi Pflueger, et al.
Epilepsia|May 19, 2015
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcomeBronwyn E Grinton, Sarah E Heron, James T Pelekanos, et al.
Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
The Lancet. Neurology|January 24, 2006
Update on pharmacogenetics in epilepsy: a brief reviewCassandra E I Szoeke, Mark Newton, Julie M Wood, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|September 1, 2004
Glioneuronal tumours in neurofibromatosis type 1: MRI-pathological studyMarco Fedi, L Anne Mitchell, Renate M Kalnins, et al.
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