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المصدر: Neuromuscular Disorders. 25:661-666
مصطلحات موضوعية: Male, Physical examination, Ubiquitin-Activating Enzymes, Fractures, Bone, Tongue, medicine, Humans, Genetics (clinical), Arthrogryposis, medicine.diagnostic_test, business.industry, Infant, Newborn, Facial weakness, Muscle weakness, Genetic Diseases, X-Linked, UBA1, Anatomy, Spinal muscular atrophy, medicine.disease, Hypotonia, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fed047523e52d62ba61f9809885cc8eTest
https://doi.org/10.1016/j.nmd.2015.05.001Test -
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المؤلفون: Maria Jolanta Redowicz, Jakub Piotr Fichna, Anna Kostera-Pruszczyk, Anna Macias, Anna Kamińska, Cezary Zekanowski, Malgorzata Topolewska
المصدر: Neuromuscular Disorders. 29:S181
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, medicine, Coding region, Neurology (clinical), Anatomy, Biology, medicine.disease, Genetics (clinical), Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4bed3c179e6127f160d23be82d574826Test
https://doi.org/10.1016/j.nmd.2019.06.503Test -
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المؤلفون: Anna Kostera-Pruszczyk, M. Milewski, Irena Hausmanowa-Petrusewicz, M. Jurek, Maria Jędrzejowska, Janusz Zimowski, D. Sielska
المصدر: Neuromuscular Disorders. 17:778-779
مصطلحات موضوعية: Physics, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Anatomy, SMA, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::61166cc61f4a3bae7a7202b2859d0d56Test
https://doi.org/10.1016/j.nmd.2007.06.064Test