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Journal of Clinical Pharmacology|March 18, 2003
Single- and multiple-dose pharmacokinetics of etoricoxib, a selective inhibitor of cyclooxygenase-2, in manNancy G B Agrawal, Arturo G Porras, Catherine Z Matthews, et al.Molecular Genetics and Metabolism|April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategiesLance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.Plos Genetics|February 2, 2019
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulationAmy E O'Connell, Maxim V Gerashchenko, Marie-Francoise O'Donohue, et al.The British Journal of Dermatology|February 17, 2017
Association and expression of the antigen-processing gene PSMB8, coding for low-molecular-mass protease 7, with vitiligo in North India: case-control studyP Dani, N Patnaik, A Singh, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yieldCynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.European Journal of Human Genetics : EJHG|August 22, 2025
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementationMichael P Mackley, Pankaj B Agrawal, Sara S Ali, et al.American Journal of Human Genetics|January 5, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq ProjectOzge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini, et al.American Journal of Medical Genetics. Part A|August 29, 2018
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophyMonica H Wojcik, Kyoko Okada, Sanjay P Prabhu, et al.Frontiers in Immunology|December 5, 2025
Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosisAsena Pinar Sefer, Mehmet Cihangir Catak, Isa An, et al.European Journal of Human Genetics : EJHG|April 14, 2019
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomesKlaus Schmitz-Abe, Qifei Li, Samantha M Rosen, et al.Pageof 83