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1دورية أكاديمية
المؤلفون: Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini, Luca Sangiorgi
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Secondary peripheral chondrosarcoma, Malignant degeneration, Multiple osteochondromas, Rare skeletal disorders, Histological evaluation, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Marina Mordenti, Morena Tremosini, Manuela Locatelli, Maria Gnoli, Cristiana Forni, Elena Pedrini, Manila Boarini, Luca Sangiorgi
المصدر: BMC Health Services Research, Vol 23, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Genetic nurse, Health services research, Cost effectiveness research, Quality of care, Rare skeletal diseases, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1472-6963Test
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3دورية أكاديمية
المؤلفون: Marina Mordenti, Manila Boarini, Federico Banchelli, Diego Antonioli, Serena Corsini, Maria Gnoli, Manuela Locatelli, Elena Pedrini, Eric Staals, Giovanni Trisolino, Marcella Lanza, Luca Sangiorgi
المصدر: Frontiers in Endocrinology, Vol 14 (2024)
مصطلحات موضوعية: osteogenesis imperfecta, phenotype, extraskeletal manifestations, bone fragility, brittle bone disease, collagen, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1299232/fullTest; https://doaj.org/toc/1664-2392Test
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4دورية أكاديمية
المؤلفون: Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
مصطلحات موضوعية: Secondary peripheral chondrosarcoma (SPC), Solitary osteochondroma, Prognostic factors, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Marco Antonio Tangaro, Pietro Mandreoli, Matteo Chiara, Giacinto Donvito, Marica Antonacci, Antonio Parisi, Angelica Bianco, Angelo Romano, Daniela Manila Bianchi, Davide Cangelosi, Paolo Uva, Ivan Molineris, Vladimir Nosi, Raffaele A. Calogero, Luca Alessandri, Elena Pedrini, Marina Mordenti, Emanuele Bonetti, Luca Sangiorgi, Graziano Pesole, Federico Zambelli
المصدر: BMC Bioinformatics, Vol 22, Iss S15, Pp 1-20 (2021)
مصطلحات موضوعية: Galaxy, Cloud computing, Bioinformatics, Laniakea, Software environment, NGS, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2105Test
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6دورية أكاديمية
المؤلفون: Marina Mordenti, Manila Boarini, Fabio D’Alessandro, Elena Pedrini, Manuela Locatelli, Luca Sangiorgi
المصدر: Frontiers in Pharmacology, Vol 13 (2022)
مصطلحات موضوعية: disease registry, real-world evidence (RWE), orphan drug, rare diseases, multiple osteochondromas, EMA initiative, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fphar.2022.966081/fullTest; https://doaj.org/toc/1663-9812Test
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7دورية أكاديمية
المؤلفون: Serena Corsini, Elena Pedrini, Claudio Patavino, Maria Gnoli, Marcella Lanza, Luca Sangiorgi
المصدر: Frontiers in Endocrinology, Vol 13 (2022)
مصطلحات موضوعية: CNV detection, Targeted NGS data, Rare skeletal disease, Multiple Osteochondromas, EXT1, EXT2, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.874126/fullTest; https://doaj.org/toc/1664-2392Test
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8دورية أكاديمية
المؤلفون: Elena Pedrini, Antonella Negro, Eugenio Di Brino, Valentina Pecoraro, Camilla Sculco, Elisabetta Abelli, Maria Gnoli, Armando Magrelli, Luca Sangiorgi, Americo Cicchetti
المصدر: Frontiers in Pharmacology, Vol 13 (2022)
مصطلحات موضوعية: Budget Impact Analysis (BIA), NGS, multiple osteochondromas, osteogenesis imperfecta, rare diseases, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fphar.2022.785705/fullTest; https://doaj.org/toc/1663-9812Test
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9دورية أكاديمية
المؤلفون: Agostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, Cristina Gorgone, Maria Gnoli, Elena Pedrini, Luca Sangiorgi, Antonino Catalano, Luca Zanoli, Teresa Mattina, Pietro Castellino
المصدر: Clinical Case Reports, Vol 9, Iss 2, Pp 922-926 (2021)
مصطلحات موضوعية: enostoses, LEMD3 gene, osteopoikilosis, sclerosing bone dysplasia, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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10دورية أكاديمية
المؤلفون: Sergio Decherchi, Elena Pedrini, Marina Mordenti, Andrea Cavalli, Luca Sangiorgi
المصدر: Frontiers in Medicine, Vol 8 (2021)
مصطلحات موضوعية: machine learning, rare disease, disease registry, open data, clinical decision support system, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2021.747612/fullTest; https://doaj.org/toc/2296-858XTest