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المؤلفون: E. Harris, Volker Straub, Hanns Lochmüller, Marta Bertoli, Anna Sarkozy, Steve Laval, Stephen G. Lynch, Ana Töpf
المصدر: Neuromuscular Disorders. 25:S276-S277
مصطلحات موضوعية: Distal symphalangism, business.industry, External ophthalmoplegia, Anatomy, Neurology, Ptosis, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Novel mutation, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b38cc894901cccaca6331e3430f6990Test
https://doi.org/10.1016/j.nmd.2015.06.327Test -
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المؤلفون: F. Muntoni, P. Goldsmith, V. Straub, K. Bushby, Marta Bertoli, Anna Sarkozy, Hanns Lochmüller, R. Barresi, Teresinha Evangelista, A. Schaefer
المصدر: Neuromuscular Disorders. 24:915-916
مصطلحات موضوعية: Weakness, Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, business.industry, medicine.disease, Compound heterozygosity, Bioinformatics, Epilepsy, Neurology, Pediatrics, Perinatology and Child Health, medicine, Myoclonic epilepsy, Neurology (clinical), Global developmental delay, Muscular dystrophy, medicine.symptom, business, Genetics (clinical), Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e195fe5c4c4dd2b01082e7e28da411e2Test
https://doi.org/10.1016/j.nmd.2014.06.403Test