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Genes|September 28, 2021
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping PhenotypesZhuo Shao, Ikuo Masuho, Anupreet Tumber, et al.Human Mutation|April 14, 2025
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with ScoliosisParker Wengryn, Karina da Costa Silveira, Connor Oborn, et al.American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.Genes|November 11, 2022
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian ExperienceAsra Almubarak, Dan Zhang, Mackenzie Kosak, et al.American Journal of Medical Genetics. Part A|November 19, 2022
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinicsApurba Mainali, Taryn Athey, Shalini Bahl, et al.American Journal of Human Genetics|April 9, 2011
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisPleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, et al.Translational Vision Science & Technology|February 4, 2022
Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1Mariana Flores Pimentel, Anna Heath, Michael J Wan, et al.European Journal of Medical Genetics|January 3, 2013
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial featuresElise Boudry-Labis, Bénédicte Demeer, Cédric Le Caignec, et al.American Journal of Human Genetics|September 15, 2015
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 MutationsMaha Faden, Fatema AlZahrani, Roberto Mendoza-Londono, et al.Epilepsia|March 31, 2015
Diagnostic yield of genetic testing in epileptic encephalopathy in childhoodSaadet Mercimek-Mahmutoglu, Jaina Patel, Dawn Cordeiro, et al.Pageof 13