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Translational Science of Rare Diseases|January 8, 2019
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate ConsortiumNicholas Ah Mew, Avital Cnaan, Robert McCarter, et al.
Muscle & Nerve|June 22, 2020
The CINRG Becker Natural History Study: Baseline characteristicsPaula R Clemens, Gabriela Niizawa, Jia Feng, et al.
International Journal of Cancer|July 22, 2010
Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutationGreta R Bunin, Marc A Felice, William Davidson, et al.
The New England Journal of Medicine|July 28, 2006
Inhaled nitric oxide in preterm infants undergoing mechanical ventilationRoberta A Ballard, William E Truog, Avital Cnaan, et al.
Neurology|August 28, 2019
Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle functionEric P Hoffman, Benjamin D Schwartz, Laurel J Mengle-Gaw, et al.
Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Neurology|January 11, 2019
Assessment of disease progression in dysferlinopathy: A 1-year cohort studyUrsula Moore, Marni Jacobs, Meredith K James, et al.
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