Showing results (41-50 of 87) with videos related to

Sort By:
Pageof 9
Brain : a Journal of Neurology|February 5, 2026
Diagnostic yield of genome sequencing in children with progressive movement disordersLuca Schierbaum, Enrique Gonzalez Saez-Diez, Amy Tam, et al.
Molecular Genetics and Metabolism|March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approachLaura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
Nucleic Acids Research|December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataHaowei Du, Zain Dardas, Angad Jolly, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
Medrxiv : the Preprint Server for Health Sciences|January 8, 2026
Expanding the Clinical and Molecular Spectrum of <i>TUBB2B</i> Through Distinct Variants Identified Across Multiple FamiliesShaghayegh T Beheshti, Angad Jolly, Ahmed K Saad, et al.
Molecular Genetics and Metabolism|March 17, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNAVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Annals of Neurology|April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic ParaplegiaDaniel G Calame, Isabella Herman, Reza Maroofian, et al.
The New England Journal of Medicine|October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA GeneVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Cell Reports|March 8, 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's diseaseThomas P Spargo, Chloe F Sands, Isabella R Juan, et al.
Pageof 9