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Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.Epilepsia|January 17, 2012
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies, Costin Leu, Carolien G F de Kovel, et al.American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.Science Advances|November 19, 2020
Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA studySara Larivière, Raúl Rodríguez-Cruces, Jessica Royer, et al.Brain : a Journal of Neurology|April 15, 2021
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathyElena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.Neuroimage. Clinical|August 2, 2021
Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy studyEzequiel Gleichgerrcht, Brent C Munsell, Saud Alhusaini, et al.Epilepsia|November 30, 2021
Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia: A MELD studyKonrad Wagstyl, Kirstie Whitaker, Armin Raznahan, et al.Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.Brain : a Journal of Neurology|October 24, 2018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyondCarla Marini, Alessandro Porro, Agnès Rastetter, et al.Pageof 68