Showing results (161-170 of 283) with videos related to

Sort By:
Pageof 29
Proceedings of the National Academy of Sciences of the United States of America|November 9, 2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansYe Wu, Amy C Arai, Gavin Rumbaugh, et al.
American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.
European Journal of Human Genetics : EJHG|December 24, 2009
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesAnna Hackett, Patrick S Tarpey, Andrea Licata, et al.
Ebiomedicine|March 15, 2026
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohortsJodi T Thomas, Alexander S F Berry, Matthew T Oetjens, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|November 29, 2014
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosisMartin B Delatycki, Jo Burke, Louise Christie, et al.
Human Genetics|September 5, 2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor geneMinaka Ishibashi, Elizabeth Manning, Cheryl Shoubridge, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.
American Journal of Human Genetics|February 18, 2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMaila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, et al.
Brain Communications|November 21, 2025
Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
Plos Genetics|March 13, 2015
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinaseLily Paemka, Vinit B Mahajan, Salleh N Ehaideb, et al.
Pageof 29