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Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, et al.Epigenomics|October 4, 2024
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newbornsMohammed Alshawsh, Melissa Wake, Jozef Gecz, et al.Molecular Genetics & Genomic Medicine|February 8, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disordersSiddharth Srivastava, Tejasvi Niranjan, Melanie M May, et al.American Journal of Human Genetics|July 14, 2015
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityRaman Kumar, Mark A Corbett, Bregje W M van Bon, et al.BMC Medical Genetics|May 10, 2017
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)Shari Javadiyan, Jamie E Craig, Shiwani Sharma, et al.The Journal of Biological Chemistry|March 18, 2017
Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disabilityKrithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, et al.European Journal of Medical Genetics|June 13, 2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsMark A Corbett, Samantha J Turner, Alison Gardner, et al.Journal of Medical Genetics|July 22, 2016
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrumMateja Smogavec, Alison Cleall, Juliane Hoyer, et al.American Journal of Medical Genetics. Part A|January 28, 2003
Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalancesArt Daniel, Elizabeth Baker, Nicole Chia, et al.Epilepsy Research|November 5, 2016
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?Kristin A Rigbye, Peter M van Hasselt, Rosemary Burgess, et al.Pageof 29