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BMC Medical Genomics|October 1, 2008
Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetranceJames West, Joy Cogan, Mark Geraci, et al.Journal of Medical Genetics|March 19, 2011
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenitaErin M Parry, Jonathan K Alder, Stella S Lee, et al.American Journal on Intellectual and Developmental Disabilities|August 1, 2009
Monoamine oxidase a promoter gene associated with problem behavior in adults with intellectual/developmental disabilitiesMichael E May, Ali Srour, Lora K Hedges, et al.Orphanet Journal of Rare Diseases|November 15, 2024
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseasesYutaka Furuta, Rory J Tinker, Rizwan Hamid, et al.NPJ Genomic Medicine|July 3, 2026
An EHR-based framework for modeling growth curves and constructing growth centile charts for genetic disordersCathy Shyr, Rory J Tinker, Rebekah F Brown, et al.American Journal of Respiratory and Critical Care Medicine|October 13, 2007
Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertensionBarbara O Meyrick, David B Friedman, D Dean Billheimer, et al.The Journal of Clinical Endocrinology and Metabolism|October 20, 2009
A molecular basis for variation in clinical severity of isolated growth hormone deficiency type IIRizwan Hamid, John A Phillips, Cindy Holladay, et al.Case Reports in Critical Care|August 4, 2026
Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular DysfunctionYutaka Furuta, Samantha N Walkin, Scott K Ward, et al.Clinical Endocrinology|July 9, 2002
Detection of a recurring mutation in the human growth hormone-releasing hormone receptor geneRoberto Salvatori, Manuel H Aguiar-Oliveira, Luciana V B Monte, et al.American Journal of Medical Genetics. Part A|January 18, 2018
Phenotypic heterogeneity of ZMPSTE24 deficiencyThomas A Cassini, Amy K Robertson, Anna G Bican, et al.Pageof 15