Showing results (21-30 of 55) with videos related to
Sort By:
Pageof 6
The Journal of Clinical Investigation|May 3, 2008
Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunctionDavid H Adler, Joy D Cogan, John A Phillips, et al.Chest|February 8, 2014
A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumoniaJonathan A Kropski, Daphne B Mitchell, Cheryl Markin, et al.Respiratory Research|September 30, 2009
Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertensionEric D Austin, John A Phillips, Joy D Cogan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertensionJohn A Phillips, Justin S Poling, Charles A Phillips, et al.Journal of Gastroenterology|January 17, 2009
The enteropathy of prostaglandin deficiencyDavid H Adler, John A Phillips, Joy D Cogan, et al.American Journal of Respiratory and Critical Care Medicine|May 27, 2006
High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertensionJoy D Cogan, Michael W Pauciulo, Amy P Batchman, et al.American Journal of Physiology. Lung Cellular and Molecular Physiology|December 27, 2011
Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertensionJames P Maloney, Robert S Stearman, Todd M Bull, et al.American Journal of Medical Genetics. Part A|May 29, 2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variantsRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.Molecular Genetics and Metabolism Reports|October 22, 2024
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive conditionKimberly M Ezell, Yutaka Furuta, Devin Oglesbee, et al.Chest|April 8, 2010
Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPCPeter F Crossno, Vasiliy V Polosukhin, Timothy S Blackwell, et al.Pageof 6