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European Journal of Human Genetics : EJHG|September 13, 2012
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotypeCarolyn J Ellaway, Gladys Ho, Elisa Bettella, et al.Pediatrics|May 3, 2008
Early diagnosis of fibrodysplasia ossificans progressivaFrederick S Kaplan, Meiqi Xu, David L Glaser, 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.Journal of Medical Genetics|August 4, 2009
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumDenise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, et al.The Journal of Clinical Endocrinology and Metabolism|December 31, 2010
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyJan Idkowiak, Stephen O'Riordan, Nicole Reisch, et al.The Journal of Experimental Medicine|July 9, 2020
Mutations in the exocyst component EXOC2 cause severe defects in human brain developmentNicole J Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, et al.Molecular Genetics and Metabolism|March 14, 2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiencyMariska Davids, Minal Menezes, Yiran Guo, et al.Journal of Medical Genetics|October 16, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomicsGina Ravenscroft, Joshua S Clayton, Fathimath Faiz, et al.Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.American Journal of Human Genetics|April 17, 2012
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsIsabelle Perrault, Sophie Saunier, Sylvain Hanein, et al.Pageof 4