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Journal of Neurogenetics|May 10, 2021
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsyElizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, et al.
European Journal of Preventive Cardiology|May 14, 2025
Risk factors associated with Gastrointestinal Bleeding in Patients with Cardiovascular Disease (INTERBLEED): a case control studyJacqueline Bosch, Martin O'Donnell, Qilong Yi, et al.
JAMA|May 4, 2016
Prevalence of Inappropriate Antibiotic Prescriptions Among US Ambulatory Care Visits, 2010-2011Katherine E Fleming-Dutra, Adam L Hersh, Daniel J Shapiro, et al.
The New England Journal of Medicine|September 10, 2015
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase DeficiencyBarbara K Burton, Manisha Balwani, François Feillet, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.
JAMA|March 13, 2014
Clinical interpretation and implications of whole-genome sequencingFrederick E Dewey, Megan E Grove, Cuiping Pan, et al.
Plos One|March 29, 2019
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsyAmanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, et al.
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