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American Journal of Medical Genetics. Part A|May 17, 2007
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardationFrank J Probst, Elizabeth R Roeder, Victoria B Enciso, et al.Molecular Genetics and Metabolism Reports|December 6, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.Molecular Genetics and Metabolism Reports|August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumTaraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.Journal of Health Psychology|June 23, 2026
Self-perceived burden and mental health outcomes in adults with osteogenesis imperfectaEmily R Strouphauer, Camille Villar, Ryan J McCarty, et al.American Journal of Human Genetics|January 9, 2008
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndromeShay Ben-Shachar, Zhishuo Ou, Chad A Shaw, et al.Molecular Genetics and Metabolism|November 15, 2011
Neurologic considerations in propionic acidemiaJohn Schreiber, Kimberly A Chapman, Marshall L Summar, et al.Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.Molecular Genetics and Metabolism|September 20, 2015
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United StatesMarcus J Miller, Lindsay C Burrage, James B Gibson, et al.Journal of Clinical Psychology in Medical Settings|January 28, 2024
Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative StudyWhitney S Shepherd, Andrew D Wiese, Hannah E Cho, et al.Disability and Health Journal|June 23, 2026
Sociodemographic and clinical predictors of resilience in individuals with osteogenesis imperfectaMadeline Hawkins, Emily Strouphauer, Ryan McCarty, et al.Pageof 18