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Molecular Genetics and Metabolism|August 30, 2017
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physiciansAtul Mehta, Nadia Belmatoug, Bruno Bembi, et al.
Redox Biochemistry and Chemistry|June 29, 2026
BMX-001 acts as a selective chemoradioprotector in rectal cancerMolly S Myers, Elizabeth A Kosmacek, Chia Sin Liew, et al.
Molecular Genetics and Metabolism|September 11, 2012
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiencyTommaso Fasano, Paolo Zanoni, Claudio Rabacchi, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 19, 2022
Ethical, legal, and social issues in the Earth BioGenome ProjectJacob S Sherkow, Katharine B Barker, Irus Braverman, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 11, 2012
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's diseaseRaquel Duran, Niccolo E Mencacci, Aikaterini V Angeli, et al.
Circulation. Cardiovascular Genetics|August 3, 2014
A common polymorphism in extracellular superoxide dismutase affects cardiopulmonary disease risk by altering protein distributionJohn M Hartney, Timothy Stidham, David A Goldstrohm, et al.
Journal of Pediatric Gastroenterology and Nutrition|August 8, 2015
Clinical Features of Lysosomal Acid Lipase DeficiencyBarbara K Burton, Patrick B Deegan, Gregory M Enns, et al.
Annals of Internal Medicine|January 27, 2016
Disclosing Pleiotropic Effects During Genetic Risk Assessment for Alzheimer Disease: A Randomized TrialKurt D Christensen, J Scott Roberts, Peter J Whitehouse, et al.
Fertility and Sterility|December 9, 2008
Fertility patients' views about frozen embryo disposition: results of a multi-institutional U.S. surveyAnne Drapkin Lyerly, Karen Steinhauser, Corrine Voils, et al.
Trials|June 28, 2017
The Risk of Oxygen during Cardiac Surgery (ROCS) trial: study protocol for a randomized clinical trialMarcos G Lopez, Mias Pretorius, Matthew S Shotwell, et al.
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