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1دورية أكاديمية
المؤلفون: E. L. Dadali, A. Kh.-M. Маkаоv, V. A. Galkina, F. A. Konovalov, A. V. Polyakov, M. V. Bulakh, R. A. Zinchеnkо
المصدر: Нервно-мышечные болезни, Vol 6, Iss 2, Pp 47-51 (2016)
مصطلحات موضوعية: наследственная моторно-сенсорная нейропатия, болезнь шарко–мари–тута типа 2е, карачаево-черкессия, nefl, миссенс-мутация с.65g>t, экзомное секвенирование, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: E. V. Zinina, M. V. Bulakh, O. P. Ryzhkova, O. A. Shchagina, A. V. Polyakov
المصدر: Neuromuscular Diseases. 13:33-43
مصطلحات موضوعية: Neurology, Neurology (clinical)
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المؤلفون: O. P. Ryzhkova, Alexander V. Polyakov, D. A. Polyakova, N. M. Galeeva, M. V. Bulakh, Elena L. Dadali
المصدر: Russian Journal of Genetics. 55:238-245
مصطلحات موضوعية: musculoskeletal diseases, 0106 biological sciences, 0303 health sciences, medicine.medical_specialty, Biology, medicine.disease, 01 natural sciences, Gastroenterology, Human genetics, 03 medical and health sciences, Sarcoglycan, Sarcoglycanopathy, Internal medicine, Cohort, Genetics, medicine, In patient, Muscular dystrophy, 030304 developmental biology, 010606 plant biology & botany, SGCA, Sarcoglycanopathies
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المؤلفون: M. V. Bulakh, O. P. Ryzhkova, A. V. Polyakov
المصدر: Russian Journal of Genetics. 54:129-144
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, biology, 030105 genetics & heredity, medicine.disease, Human genetics, 03 medical and health sciences, Sarcoglycan, SGCG, 0302 clinical medicine, Glycoprotein complex, medicine, biology.protein, Muscular dystrophy, Dystrophin, 030217 neurology & neurosurgery, Sarcoglycanopathies, SGCA