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1
المؤلفون: Carsten G. Bönnemann, Maria JȨdrzejowska, Anna Kostera-Pruszczyk, Anna Kamińska, Akanchha Kesari, Ying Hu, Jaya Punetha, Eric P. Hoffman, Monika Gos, Yaqun Zou, Irena Hausmanowa-Petrusewicz
المصدر: Muscle & Nerve. 55:277-281
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Physiology, Ullrich congenital muscular dystrophy, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Collagen VI, Physiology (medical), Internal medicine, medicine, Missense mutation, Myopathy, business.industry, Bethlem myopathy, Overlap syndrome, medicine.disease, Congenital myopathy, Hypotonia, 030104 developmental biology, Endocrinology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::526c9a95fb52c57a11be7c04f5fca819Test
https://doi.org/10.1002/mus.25232Test -
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المؤلفون: Piotr Pruszczyk, Anna Kamińska, Krzysztof Szczałuba, Maria Miszczak-Knecht, Katarzyna Bieganowska, Emily Quinn, Anna Kostera-Pruszczyk, Louis J. Ptáček, Piotr Bienias, Rafał Płoski, Hsien-Yang Lee, Anna Potulska-Chromik
المصدر: Muscle & Nerve. 51:192-196
مصطلحات موضوعية: medicine.medical_specialty, Physiology, business.industry, Periodic paralysis, medicine.disease, Penetrance, Sudden cardiac death, Cellular and Molecular Neuroscience, Andersen–Tawil syndrome, Channelopathy, Physiology (medical), Internal medicine, Variable phenotype, Cardiology, Medicine, Neurology (clinical), business, Intrafamilial variability
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8867da05422dc98a7406a8d0b005ef52Test
https://doi.org/10.1002/mus.24293Test