Showing results (391-400 of 406) with videos related to

Sort By:
Pageof 41
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
The Journal of Clinical Investigation|September 9, 2025
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndromeEnrico Virgilio, Sylvia Tielens, Georgia Bonfield, et al.
Genome Biology|March 30, 2021
Comprehensive identification of somatic nucleotide variants in human brain tissueYifan Wang, Taejeong Bae, Jeremy Thorpe, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Neuron|September 25, 2015
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk LociStephan J Sanders, Xin He, A Jeremy Willsey, et al.
Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signatureRichard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
Biorxiv : the Preprint Server for Biology|February 9, 2026
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsySattar Khoshkhoo, Mingyun Bae, Yilan Wang, et al.
Brain : a Journal of Neurology|March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migrationJordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
Immunity|November 27, 2024
Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signalingMasato Ogishi, Koji Kitaoka, Kim L Good-Jacobson, et al.
Pageof 41