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European Journal of Medical Genetics|July 31, 2010
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic featuresZornitza Stark, Damien L Bruno, Hayley Mountford, et al.Molecular Genetics and Metabolism|March 1, 2024
The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatmentSarah Donoghue, Jordan Wright, Anne K Voss, et al.The Laryngoscope|December 31, 2020
Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness AnalysisLilian Downie, David J Amor, Jane Halliday, et al.Journal of Speech, Language, and Hearing Research : JSLHR|September 15, 2023
An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of SpeechMariana L Lauretta, Anna Jarmolowicz, David J Amor, et al.American Journal of Medical Genetics. Part A|January 25, 2005
Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3David J Amor, Lucille Voullaire, Karen Bentley, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2010
Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndromeMarleen R Susman, David J Amor, Evelyne Muggli, et al.Journal of Neurodevelopmental Disorders|December 28, 2019
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndromeEmma K Baker, Marta Arpone, Solange Aliaga Vera, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2020
Genetics and pediatric hospital admissions, 1985 to 2017Stephanie Gjorgioski, Jane Halliday, Merilyn Riley, et al.European Journal of Medical Genetics|May 29, 2025
Hexasomy of the 15q11q13 region: a detailed report and review of the literatureCharissa Y Z Chan, Emma K Baker, David Francis, et al.European Journal of Human Genetics : EJHG|February 6, 2014
Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findingsErin Turbitt, Michelle M Wiest, Jane L Halliday, et al.Pageof 27