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1
المؤلفون: Elena Costa, Giulia Merletti, Rosanna Cardani, Valeria A. Sansone, Giovanni Meola, Ilaria Merli, Rea Valaperta, Edoardo Spina, Barbara Fossati, Fortunata Lombardi, Elisa Brigonzi
المصدر: Genetic Testing and Molecular Biomarkers. 19:703-709
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Pathology, medicine.medical_specialty, Myotonic dystrophy type 2, Myotonic dystrophy, Cohort Studies, Predictive Value of Tests, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, Myopathy, Genetics (clinical), Aged, DNA Repeat Expansion, medicine.diagnostic_test, business.industry, RNA-Binding Proteins, General Medicine, Middle Aged, medicine.disease, Myotonia, DNA extraction, Predictive value of tests, Female, Reagent Kits, Diagnostic, medicine.symptom, business, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f52dd5c253026040cdc605b60e4c8895Test
https://doi.org/10.1089/gtmb.2015.0135Test -
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المؤلفون: Richard T. Moxley, Robert C. Griggs, Valeria A. Sansone
المصدر: Neuromuscular Disorders. 10:165-172
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Asymptomatic, Myotonic dystrophy, Proximal myotonic myopathy, Diagnosis, Differential, Hypothyroidism, Cataracts, Internal medicine, Hypothyroid myopathy, medicine, Humans, Euthyroid, Genetics (clinical), Aged, business.industry, Myotonia, medicine.disease, Pedigree, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Proximal weakness, Female, Neurology (clinical), medicine.symptom, business, Myotonic Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc32bbcbaeb19fdb14444baf0a336b59Test
https://doi.org/10.1016/s0960-8966Test(99)00097-8 -
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المصدر: Neuromuscular Disorders. 7:S53-S56
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Proximal muscle weakness, Biopsy, Muscular Dystrophies, Oculopharyngeal muscular dystrophy, Sarcolemma, Ptosis, medicine, Blepharoptosis, Humans, Muscle, Skeletal, Myopathy, Genetics (clinical), Aged, Family Health, Inclusion Bodies, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscle weakness, Middle Aged, medicine.disease, Dysphagia, Pedigree, Microscopy, Electron, Italy, Neurology, Oculomotor Muscles, Pediatrics, Perinatology and Child Health, Pharyngeal Muscles, Female, Neurology (clinical), medicine.symptom, Bilateral ptosis, Deglutition Disorders, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d26cad78adfbe68291219040d40c428Test
https://doi.org/10.1016/s0960-8966Test(97)00083-7 -
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المصدر: Neuromuscular disorders : NMD. 6(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Proximal muscle weakness, Genetic Linkage, Biology, Myotonic dystrophy, Cataract, Proximal myotonic myopathy, Myotonia, Trinucleotide Repeats, Internal medicine, medicine, Humans, Age of Onset, Genetics (clinical), Aged, Muscle biopsy, medicine.diagnostic_test, Hypogonadism, Muscle weakness, Neuromuscular Diseases, Syndrome, Middle Aged, medicine.disease, Endocrinology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Anticipation (genetics), Female, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0d086dc83a840bfda0535b7bfd08f7Test
https://pubmed.ncbi.nlm.nih.gov/8784800Test -
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المؤلفون: Richard T. Moxley, Martin Schalling, Valeria A. Sansone, Qiu-Ping Yuan, Matt Krym, Donald Henderson, Maurice S. Swanson, Carl R. Urbinati, Ami Mankodi, Charles A. Thornton
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Mutant, Biology, Myotonic dystrophy, chemistry.chemical_compound, Ribonucleases, Trinucleotide Repeats, Genetics, medicine, Animals, Drosophila Proteins, Humans, Myotonic Dystrophy, MBNL1, Muscle, Skeletal, Molecular Biology, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), Aged, Cell Nucleus, Messenger RNA, Nuclear Proteins, RNA, General Medicine, Middle Aged, medicine.disease, Molecular biology, Cell nucleus, medicine.anatomical_structure, chemistry, Drosophila, Female, Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e736e609ea25f97a58381a65efa430d5Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-0034783271&partnerID=MN8TOARSTest