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Molecular Genetics and Metabolism|March 17, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, et al.Neuromuscular Disorders : NMD|July 16, 2010
Clinical and genetic characterization of manifesting carriers of DMD mutationsPayam Soltanzadeh, Michael J Friez, Diane Dunn, et al.JCI Insight|July 22, 2021
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentationDanique Beijer, Hong Joo Kim, Lin Guo, et al.Journal of Medicinal Chemistry|March 13, 2015
The Discovery of Orally Bioavailable Tyrosine Threonine Kinase (TTK) Inhibitors: 3-(4-(heterocyclyl)phenyl)-1H-indazole-5-carboxamides as Anticancer AgentsYong Liu, Yunhui Lang, Narendra Kumar Patel, et al.Journal of Medicinal Chemistry|January 23, 2004
Synthesis and structure-activity relationships of novel arylpiperazines as potent and selective agonists of the melanocortin subtype-4 receptorTimothy I Richardson, Paul L Ornstein, Karin Briner, et al.Human Mutation|November 26, 2009
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohortKevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, et al.Neurology|February 26, 2026
Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1Kristofoor E Leeuwenberg, Valeria A Sansone, Johanna Hamel, et al.Journal of Comparative Effectiveness Research|August 28, 2020
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophyCraig Campbell, Richard J Barohn, Enrico Bertini, et al.Orphanet Journal of Rare Diseases|October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsSandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.Pageof 17