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JAMA Ophthalmology|October 11, 2019
Evaluation of Systematic Reviews of Interventions for Retina and Vitreous ConditionsJimmy T Le, Riaz Qureshi, Claire Twose, et al.Nature Genetics|March 23, 2004
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeGevork N Mnatzakanian, Hannes Lohi, Iulia Munteanu, et al.Human Molecular Genetics|June 9, 1998
Molecular analysis of the PDS gene in Pendred syndromeB Coyle, W Reardon, J A Herbrick, et al.G3 (Bethesda, Md.)|July 4, 2015
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary DyskinesiaChristian R Marshall, Stephen W Scherer, Maimoona A Zariwala, et al.NPJ Genomic Medicine|December 22, 2017
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort studyIris Cohn, Tara A Paton, Christian R Marshall, et al.Cell Reports|December 26, 2019
Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1Ameet S Sengar, Hongbin Li, Wenbo Zhang, et al.Neurobiology of Disease|September 27, 2025
Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypesMaria Sundberg, Carole Shum, Erika M Norabuena, et al.European Journal of Human Genetics : EJHG|November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeMarjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.Molecular Autism|November 21, 2017
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephalyMarc Woodbury-Smith, Eric Deneault, Ryan K C Yuen, et al.Journal of Child Neurology|April 22, 2015
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 GeneGali Heimer, Yair Sadaka, Lori Israelian, et al.Pageof 88