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Bioinformatics (Oxford, England)|May 16, 2019
Variant Score Ranker-a web application for intuitive missense variant prioritizationJuanjiangmeng Du, Monica Sudarsanam, Eduardo Pérez-Palma, et al.American Journal of Human Genetics|June 27, 2023
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general populationLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.European Journal of Human Genetics : EJHG|January 24, 2018
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsyDheeraj R Bobbili, Dennis Lal, Patrick May, et al.Medrxiv : the Preprint Server for Health Sciences|March 28, 2023
The role of rare genetic variants enrichment in epilepsies of presumed genetic etiologyLinnaeus Bundalian, Yin-Yuan Su, Siwei Chen, et al.Human Mutation|April 14, 2025
Quantitative Phenotype Morbidity Description of SATB2-Associated SyndromeYuri A Zarate, Katherine Bosanko, Amrit Kannan, et al.Medrxiv : the Preprint Server for Health Sciences|May 20, 2024
Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptorsLudovica Montanucci, Tobias Brünger, Nisha Bhattarai, et al.Cell Reports|June 2, 2023
Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editingJuan Lorenzo B Pablo, Savannah L Cornett, Lei A Wang, et al.Annals of Neurology|December 16, 2020
Characterization of the GABRB2-Associated Neurodevelopmental DisordersChristelle M El Achkar, Merle Harrer, Lacey Smith, et al.Human Molecular Genetics|November 13, 2024
Ligand distances as key predictors of pathogenicity and function in NMDA receptorsLudovica Montanucci, Tobias Brünger, Nisha Bhattarai, et al.Epilepsia|July 18, 2019
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and developmentScott T Demarest, Heather E Olson, Angela Moss, et al.Pageof 15