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1دورية أكاديمية
المؤلفون: Cinzia Bettio, Valentina Salsi, Mirko Orsini, Enrico Calanchi, Luca Magnotta, Luca Gagliardelli, June Kinoshita, Sonia Bergamaschi, Rossella Tupler
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: Rare disease registry, Data collection, Data integration, FSHD, Rare diseases, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Teresa Schätzl, Lars Kaiser, Hans-Peter Deigner
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-26 (2021)
مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy (FSHD), Double Homeobox 4 (DUX4), Epigenetic, Downstream signalling, Treatment strategies, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: Patient registry, Database, Facioscapulohumeral muscular dystrophy, FSHD, FSHD1, FSHD2, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0960-xTest; https://doaj.org/toc/1750-1172Test
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4
المؤلفون: Sonia Bergamaschi, Cinzia Bettio, Luca Magnotta, June Kinoshita, Enrico Calanchi, Luca Gagliardelli, Rossella Tupler, Mirko Orsini, Valentina Salsi
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)مصطلحات موضوعية: medicine.medical_specialty, Facioscapulohumeral, Genetic counseling, Data management, Disease, Rare disease registry, Data collection, Data integration, FSHD, Rare diseases, Delivery of Health Care, Humans, Italy, Precision Medicine, Rare Diseases, Muscular Dystrophy, Facioscapulohumeral, Registries, computer.software_genre, Health care, Medicine, Pharmacology (medical), Medical physics, Muscular Dystrophy, Genetics (clinical), business.industry, Research, General Medicine, Precision medicine, Analytics, business, computer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42765fec0243c6fcc8ec1e2c20932cf6Test
https://pubmed.ncbi.nlm.nih.gov/34736505Test -
5
المؤلفون: Peter Schneiderat, Maggie C. Walter, Yi-Wen Chen, Naoe Harafuji
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: musculoskeletal diseases, YAF2, Muscle Proteins, miR-411, Muscle disorder, Biology, MyoD, YY1, Myoblasts, 03 medical and health sciences, 0302 clinical medicine, MyoD Protein, DUX4, medicine, Facioscapulohumeral muscular dystrophy, Humans, Genetics(clinical), Pharmacology (medical), Myod, Genetics (clinical), Myogenin, In Situ Hybridization, 030304 developmental biology, Cell Line, Transformed, Medicine(all), 0303 health sciences, FSHD, microRNA, Myogenesis, Research, Gene Expression Profiling, General Medicine, medicine.disease, Molecular biology, Muscular Dystrophy, Facioscapulohumeral, Up-Regulation, Repressor Proteins, MicroRNAs, myogenin, Chromosomes, Human, Pair 4, C2C12, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a90a6a5459dd9c01d4fc7b98748aeb5Test
http://europepmc.org/articles/PMC3637251Test