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المؤلفون: Hacer Durmus, Said Hashemolhosseini, Isin Baral Kulaksizoglu, Yesim Parman, Evren Önay Uçar, Serdar Ceylaner, Heinrich Sticht, Elif Mertoğlu
المصدر: Neurological Sciences. 42:3871-3878
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Psychosis, Pes cavus, Weakness, Ataxia, Neurology, Cerebellar Ataxia, Glycoside Hydrolases, Dermatology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Child, business.industry, Neurodegeneration, General Medicine, Postural tremor, medicine.disease, Psychiatry and Mental health, medicine.anatomical_structure, Psychotic Disorders, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Sensory nerve
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68397fc2d003eeb228645cc4d972be67Test
https://doi.org/10.1007/s10072-021-05100-wTest -
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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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المصدر: Neurophysiologie Clinique. 48:261-267
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Needle electrode, Facial Muscles, Newly diagnosed, Generalized weakness, Concentric, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Myasthenia Gravis, otorhinolaryngologic diseases, medicine, Humans, Repetitive nerve stimulation, Muscle, Skeletal, Electrodes, Aged, Jitter, Neurologic Examination, Electromyography, business.industry, General Medicine, Middle Aged, medicine.disease, Electric Stimulation, Myasthenia gravis, 030104 developmental biology, Neurology, Needles, Anesthesia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb77037b631f07801a79c8c2a72ebe06Test
https://doi.org/10.1016/j.neucli.2018.01.003Test -
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المؤلفون: Hacer Durmus, Yesim Parman, Volker Straub, Ana Töpf, Magdalena Mroczek
المصدر: Genes
Volume 11
Issue 7
Genes, Vol 11, Iss 716, p 716 (2020)مصطلحات موضوعية: Adult, 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Adolescent, lcsh:QH426-470, plectin, Electromyography, Article, PLEC, 03 medical and health sciences, 0302 clinical medicine, Ptosis, Genetics, medicine, Humans, Repetitive nerve stimulation, Muscular dystrophy, Child, Genetics (clinical), Myasthenic Syndromes, Congenital, medicine.diagnostic_test, business.industry, limb-girdle muscular dystrophy, Homozygote, Facial weakness, Exons, medicine.disease, myasthenia, lcsh:Genetics, Phenotype, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Muscle cramp
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b4f36d8f03d6adf456c1ba436f19ffTest