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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
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المؤلفون: Mark Busby, Rita Barresi, L. Phillips, Tiziana Mongini, Hacer Durmus, Jonathan Baets, Fiona Norwood, Judith N Hudson, James Miller, Peter De Jonghe, Shahriar Nafissi, Katherine Johnson, Ana Töpf, Monkol Lek, Stojan Peric, Daniel G. MacArthur, Marta Bertoli, Willem De Ridder, Shirin Jamal-Omidi, Vidosava Rakocevic Stojanovic, Volker Straub, Tine Deconinck, Anna Łusakowska
المصدر: Journal of neurology, neurosurgery and psychiatry
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Myopathy, Ubiquitin-Protein Ligases, Nonsense mutation, Population, Ethnic Groups, Muscle disorder, Muscular Dystrophies, Frameshift mutation, Tripartite Motif Proteins, 03 medical and health sciences, Limb-Girdle, 0302 clinical medicine, Muscular Diseases, Missense mutation, Medicine, Humans, Muscular dystrophy, education, Exome sequencing, Muscle disease, education.field_of_study, Neuromuscular, Female, Magnetic Resonance Imaging, Middle Aged, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Mutation, Transcription Factors, business.industry, Skeletal, medicine.disease, 3. Good health, Psychiatry and Mental health, Muscle, Surgery, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cfdfc1be3263ac26ee02f4f736fa0bTest
http://hdl.handle.net/2318/1786348Test -
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المؤلفون: L. Phillips, Katherine Johnson, Ros Quinlivan, H Houlden, Ana Töpf, Feza Deymeer, Yesim Parman, Anthony H.V. Schapira, Andreea Manole, P. Oflazer-Serdaoglu, J.L. Holton, A. Gardiner, Jasper M. Morrow, Volker Straub, Renata S Scalco, Hacer Durmus
المصدر: Neuromuscular Disorders. 27:S144
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Metabolic myopathy, Muscular dystrophy, medicine.disease, business, Genetics (clinical), Clinical neurology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::38105c383dd774505f1ff9138a20731aTest
https://doi.org/10.1016/j.nmd.2017.06.188Test -
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المؤلفون: Hacer Durmus, Feza Deymeer, Piraye Serdaroglu-Oflazer
مصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, business.industry, Emerin, Dilated cardiomyopathy, Laminopathy, medicine.disease, FHL1, 3. Good health, LMNA, Transplantation, 03 medical and health sciences, 0302 clinical medicine, medicine, Emery–Dreifuss muscular dystrophy, Muscular dystrophy, business, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::85069efd1cc20cd971cf0f53991f2746Test
https://doi.org/10.1016/b978-0-12-417044-5.00035-4Test -
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المؤلفون: Feza Deymeer, M. Gokyigiti, Yesim Parman, Kate Bushby, Piraye Serdaroglu-Oflazer, Veronika Karcagi, Seyhun Solakoglu, Hanns Lochmüller, Esen Kiyan, Volker Straub, Hacer Durmus, C. Ertekin, Steve Laval, Ibrahim Ercan
المصدر: Neurology. 76(3)
مصطلحات موضوعية: Adult, Male, Weakness, Pathology, medicine.medical_specialty, Time Factors, Adolescent, Turkey, Facial Muscles, Genes, Recessive, Vocal Cords, Severity of Illness Index, Atrophy, Ptosis, Muscular Dystrophy, Oculopharyngeal, medicine, Blepharoptosis, Humans, Genetic Predisposition to Disease, Muscular dystrophy, Age of Onset, Myopathy, Child, Aged, Genes, Dominant, Muscle Weakness, business.industry, Electromyography, Muscle weakness, Middle Aged, medicine.disease, Deglutition, Phenotype, Spirometry, Disease Progression, Female, Neurology (clinical), medicine.symptom, Age of onset, business, Oropharyngeal dysphagia, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2260b1d7313d1fdc3871c0fca7c4f12Test
https://pubmed.ncbi.nlm.nih.gov/21242490Test