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European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.
Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
<i>BLOC1S1</i> variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.
American Journal of Human Genetics|March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.
Biorxiv : the Preprint Server for Biology|May 10, 2023
A transposase-derived gene required for human brain developmentLuz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez, et al.
JAMA Neurology|November 29, 2017
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young AdultsMajida Charif, Alessia Nasca, Kyle Thompson, et al.
Brain Communications|February 18, 2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairmentRauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.
The Journal of Clinical Investigation|April 21, 2026
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Annals of Clinical and Translational Neurology|October 18, 2022
Phenotypic continuum of NFU1-related disordersRauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, et al.
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