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المؤلفون: Eleina M. England, Samantha J. Bryen, Sandra T. Cooper, Hacer Durmus, Sunita Bijarnia-Mahay, Volker Straub, Jennifer Duff, Roula Ghaoui, Magdalena Mroczek, Ana Töpf, Daniel G. MacArthur
المصدر: Neuromuscular Disorders. 30:310-314
مصطلحات موضوعية: 0301 basic medicine, Inosine monophosphate, Pathology, medicine.medical_specialty, Weakness, Proximal muscle weakness, business.industry, Purine nucleotide cycle, Compound heterozygosity, Muscle atrophy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery, Genetics (clinical), Muscle contracture
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6027f6673c4b90130d13121d20aae4deTest
https://doi.org/10.1016/j.nmd.2020.02.006Test -
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المؤلفون: Feza Deymeer, Piraye Oflazer-Serdaroglu, Yesim Parman, S. Ceylaner, Hacer Durmus
المصدر: Neuromuscular Disorders. 29:S140-S141
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4175cd1990bc31254bc436f17660515aTest
https://doi.org/10.1016/j.nmd.2019.06.367Test