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Journal of Medical Genetics|August 31, 2016
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrumMiriam S Reuter, Angelika Riess, Ute Moog, et al.Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.American Journal of Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.Journal of Medical Genetics|April 21, 2021
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disordersLeslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, et al.American Journal of Human Genetics|September 22, 2015
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Ilham Ratbi, Kim D Falkenberg, Manou Sommen, et al.American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.Pageof 4