Showing results (91-100 of 145) with videos related to

Sort By:
Pageof 15
Journal of Gastroenterology|January 17, 2009
The enteropathy of prostaglandin deficiencyDavid H Adler, John A Phillips, Joy D Cogan, et al.
Neurology|May 5, 2021
Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic VariantsCyndya A Shibao, Karen Joos, John A Phillips, et al.
Circulation. Cardiovascular Genetics|April 5, 2012
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertensionEric D Austin, Lijiang Ma, Charles LeDuc, et al.
European Journal of Human Genetics : EJHG|December 15, 2011
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinationsSarah Vergult, Andrew Dauber, Barbara Delle Chiaie, 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.
Human Mutation|November 1, 2022
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delayHongzheng Dai, Wenmiao Zhu, Bo Yuan, 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.
Catheterization and Cardiovascular Interventions : Official Journal of the Society for Cardiac Angiography & Interventions|February 1, 2021
Histopathologic analysis of extracted thrombi from deep venous thrombosis and pulmonary embolism: Mechanisms and timingMitchell J Silver, Rika Kawakami, Michael A Jolly, et al.
Pageof 15