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Neuromuscular Disorders : NMD|July 18, 2012
Report on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USAAnne Rutkowski, Carsten Bönnemann, Susan Brown, et al.
Human Molecular Genetics|February 9, 2017
PTRH2 gene mutation causes progressive congenital skeletal muscle pathologyJinger Doe, Angela M Kaindl, Mayumi Jijiwa, et al.
PNAS Nexus|June 11, 2025
Mitochondrial PTRH2 controls the deubiquitinase TRABID to regulate mt-ND5 stability and metabolismCarlotta Giorgi, Femke J Aan, Natalija Glibetic, et al.
Medicine|April 20, 2001
Community-acquired pneumonia. A prospective outpatient studyP Y Bochud, F Moser, P Erard, et al.
Annals of Clinical and Translational Neurology|January 10, 2015
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weaknessHao Hu, Michelle L Matter, Lina Issa-Jahns, et al.
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