Showing results (141-150 of 150) with videos related to
Sort By:
Pageof 15
You have reached the last page of results.This site can display upto 150 results.
Neurology|February 10, 2019
Clinical spectrum of STX1B-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.Epilepsia|May 27, 2020
Lessons learned from 40 novel PIGA patients and a review of the literatureAllan Bayat, Alexej Knaus, Manuela Pendziwiat, et al.Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.Nature Genetics|August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikesJohannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Genome-wide association study of copy number variations in Parkinson's diseaseZied Landoulsi, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, et al.NPJ Parkinson'S Disease|April 20, 2026
Genome-wide association study of copy number variations in Parkinson's diseaseZied Landoulsi, Ashwin Ashok Kumar Sreelatha, Nicole Kuznetsov, et al.The Lancet. Neurology|July 24, 2018
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control studyPatrick May, Simon Girard, Merle Harrer, et al.Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.Pageof 15