Showing results (521-530 of 664) with videos related to

Sort By:
Pageof 67
Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.
Neurology|May 26, 2021
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
European Journal of Human Genetics : EJHG|November 29, 2022
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disabilityDavid I Francis, Zornitza Stark, Ingrid E Scheffer, et al.
Annals of Clinical and Translational Neurology|September 5, 2015
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsyMichael S Hildebrand, Rick Tankard, Elena V Gazina, et al.
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.
Epilepsia|October 22, 2019
The epileptology of GNB5 encephalopathyGemma Poke, Chontelle King, Alison Muir, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
Pageof 67