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Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsSandra Whalen, Marie Shaw, Cyril Mignot, et al.
American Journal of Human Genetics|April 17, 2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusF Lucy Raymond, Patrick S Tarpey, Sarah Edkins, et al.
Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.
Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.
American Journal of Human Genetics|February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticityAlina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.
European Journal of Human Genetics : EJHG|September 2, 2004
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationOzge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, et al.
American Journal of Medical Genetics. Part A|May 7, 2019
Clinical and molecular spectrum of CHOPS syndromeSarah E Raible, Devanshi Mehta, Chiara Bettale, et al.
Nature Genetics|April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPatrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.
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