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Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disordersCristiane Hsu, Alina Ivaniuk, Andres Jimenez-Gomez, et al.
Brain : a Journal of Neurology|June 23, 2020
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjectsLisa-Marie Niestroj, Eduardo Perez-Palma, Daniel P Howrigan, et al.
Brain : a Journal of Neurology|March 14, 2020
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variantsJavier A López-Rivera, Eduardo Pérez-Palma, Joseph Symonds, et al.
Brain Communications|March 25, 2024
Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health recordsChristian M Boßelmann, Alina Ivaniuk, Mark St John, et al.
Scientific Reports|September 17, 2020
Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizuresCostin Leu, Jocelyn F Bautista, Monica Sudarsanam, et al.
Pediatric Neurology|April 1, 2019
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical ReviewHeather E Olson, Scott T Demarest, Elia M Pestana-Knight, et al.
Epilepsy & Behavior Reports|March 4, 2022
Incidence and prevalence of major epilepsy-associated brain lesionsJavier A López-Rivera, Victoria Smuk, Costin Leu, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 21, 2019
A comprehensive clinico-pathological and genetic evaluation of bottom-of-sulcus focal cortical dysplasia in patients with difficult-to-localize focal epilepsyZhong Ying, Irene Wang, Ingmar Blümcke, et al.
Genome Research|December 25, 2019
Identification of pathogenic variant enriched regions across genes and gene familiesEduardo Pérez-Palma, Patrick May, Sumaiya Iqbal, et al.
Human Mutation|November 30, 2019
SCN1A variants from bench to bedside-improved clinical prediction from functional characterizationAndreas Brunklaus, Stephanie Schorge, Alexander D Smith, et al.
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