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Plos Genetics|October 26, 2017
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorderTom S Koemans, Tjitske Kleefstra, Melissa C Chubak, et al.Human Reproduction (Oxford, England)|November 25, 2025
Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counselingV Vernimmen, M De Rycke, C Moutou, et al.Acta Neuropathologica|December 17, 2021
DTYMK is essential for genome integrity and neuronal survivalJo M Vanoevelen, Jörgen Bierau, Janine C Grashorn, et al.Journal of Intellectual Disability Research : JIDR|October 20, 2025
Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA GuidelineMirthe J Klein Haneveld, Katarzyna Świeczkowska, Tomasz Grybek, et al.European Journal of Medical Genetics|June 24, 2017
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yieldE Overwater, K Floor, D van Beek, et al.Acta Neuropathologica|March 31, 2024
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletionFelipe Correa-da-Silva, Jenny Carter, Xin-Yuan Wang, et al.European Journal of Human Genetics : EJHG|September 16, 2022
The performance of genome sequencing as a first-tier test for neurodevelopmental disordersBart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.NPJ Genomic Medicine|November 16, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseqR Koster, R D Brandão, D Tserpelis, et al.Pageof 7