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American Journal of Medical Genetics. Part A|September 21, 2021
Paternal retraction of a fragile X allele to normal size, showing normal function over two generationsEssra Bartlett, Alison D Archibald, David Francis, et al.Clinical Chemistry|April 30, 2014
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spotsYoshimi Inaba, Charles E Schwartz, Quang M Bui, et al.Expert Reviews in Molecular Medicine|July 2, 2015
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysisDavid E Godler, Yoshimi Inaba, Charles E Schwartz, et al.American Journal of Medical Genetics. Part A|July 18, 2009
Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairmentMatthew Hunter, Damien Bruno, David J AmorAmerican Journal of Human Genetics|August 28, 2002
Neocentromeres: role in human disease, evolution, and centromere studyDavid J Amor, K H Andy ChooJournal of Paediatrics and Child Health|July 5, 2007
Recurrence risk in Autism Spectrum Disorder: a study of parental knowledgeCharlotte Whitelaw, Peter Flett, David J AmorEuropean Journal of Human Genetics : EJHG|September 27, 2025
From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testingGráinne Butler, David J Amor, Catherine QuinlanMolecular Genetics & Genomic Medicine|October 15, 2025
Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable OutcomeCrystle Lee, Ellen Casey, David J AmorGenetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohortsClaudine M Kraan, Quang M Bui, Mike Field, et al.Molecular Genetics & Genomic Medicine|February 23, 2019
Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencingSamantha N Hartin, Waheeda A Hossain, David Francis, et al.Pageof 27