Hasil Pencarian - Luca Sangiorgi

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  1. 1
    Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review

    Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review oleh Maria Gnoli, Evelise Brizola, Morena Tremosini, Alessia Di Cecco, Luca Sangiorgi

    Diterbitkan 2023-05-01
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  2. 2
    Opportunities and Challenges for Machine Learning in Rare Diseases

    Opportunities and Challenges for Machine Learning in Rare Diseases oleh Sergio Decherchi, Elena Pedrini, Marina Mordenti, Andrea Cavalli, Andrea Cavalli, Luca Sangiorgi

    Diterbitkan 2021-10-01
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  3. 3
    An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

    An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease oleh Serena Corsini, Elena Pedrini, Claudio Patavino, Maria Gnoli, Marcella Lanza, Luca Sangiorgi

    Diterbitkan 2022-06-01
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  4. 4
    Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations

    Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations oleh Marina Mordenti, Manila Boarini, Fabio D’Alessandro, Elena Pedrini, Manuela Locatelli, Luca Sangiorgi

    Diterbitkan 2022-09-01
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  5. 5
    Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study

    Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study oleh Marina Mordenti, Morena Tremosini, Manuela Locatelli, Maria Gnoli, Cristiana Forni, Elena Pedrini, Manila Boarini, Luca Sangiorgi

    Diterbitkan 2023-11-01
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  6. 6
    Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

    Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation oleh Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera, Sabrina Giglio, Luca Sangiorgi

    Diterbitkan 2020-09-01
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  7. 7
    Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas

    Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas oleh Noemi Veraldi, Alessandro Parra, Elena Urso, Cesare Cosentino, Manuela Locatelli, Serena Corsini, Elena Pedrini, Annamaria Naggi, Antonella Bisio, Luca Sangiorgi

    Diterbitkan 2018-12-01
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  8. 8
    Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases

    Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases oleh Elena Pedrini, Antonella Negro, Eugenio Di Brino, Valentina Pecoraro, Camilla Sculco, Elisabetta Abelli, Maria Gnoli, Armando Magrelli, Luca Sangiorgi, Americo Cicchetti

    Diterbitkan 2022-06-01
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  9. 9
    Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

    Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature oleh Agostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, Cristina Gorgone, Maria Gnoli, Elena Pedrini, Luca Sangiorgi, Antonino Catalano, Luca Zanoli, Teresa Mattina, Pietro Castellino

    Diterbitkan 2021-02-01
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  10. 10
    Outcomes of Temporary Hemiepiphyseal Stapling for Correcting Genu Valgum in Children with Multiple Osteochondromas: A Single Institution Study

    Outcomes of Temporary Hemiepiphyseal Stapling for Correcting Genu Valgum in Children with Multiple Osteochondromas: A Single Institution Study oleh Giovanni Trisolino, Manila Boarini, Marina Mordenti, Andrea Evangelista, Giovanni Gallone, Stefano Stallone, Paola Zarantonello, Diego Antonioli, Giovanni Luigi Di Gennaro, Stefano Stilli, Luca Sangiorgi

    Diterbitkan 2021-04-01
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  11. 11
    Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

    Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients oleh Marina Mordenti, Manila Boarini, Federico Banchelli, Diego Antonioli, Serena Corsini, Maria Gnoli, Manuela Locatelli, Elena Pedrini, Eric Staals, Giovanni Trisolino, Marcella Lanza, Luca Sangiorgi

    Diterbitkan 2024-01-01
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  12. 12
    Aging and Imaging Assessment of Body Composition: From Fat to Facts

    Aging and Imaging Assessment of Body Composition: From Fat to Facts oleh Federico Ponti, Aurelia Santoro, Aurelia Santoro, Daniele Mercatelli, Chiara Gasperini, Maria Conte, Maria Conte, Morena Martucci, Luca Sangiorgi, Claudio Franceschi, Claudio Franceschi, Alberto Bazzocchi

    Diterbitkan 2020-01-01
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  13. 13
    COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

    COL1-Related Disorders: Case Report and Review of Overlapping Syndromes oleh Maria Gnoli, Evelise Brizola, Morena Tremosini, Elena Pedrini, Margherita Maioli, Massimiliano Mosca, Alessandra Bassotti, Alessandra Bassotti, Paola Castronovo, Paola Castronovo, Cecilia Giunta, Luca Sangiorgi

    Diterbitkan 2021-05-01
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  14. 14
    Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series

    Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series oleh 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

    Diterbitkan 2024-02-01
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  15. 15
    Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

    Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions oleh Muhammad Kassim Javaid, Marina Mordenti, Manila Boarini, Luca Sangiorgi, ERN BOND Working Group, Ingunn Westerheim, Inês Alves, Rebecca Tvedt Skarberg, Natasha M. Appelman-Dijkstra, Corinna Grasemann

    Diterbitkan 2021-11-01
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  16. 16
    Establishing the first pan-European Registry for rare bone and mineral disorders: EuRR-Bone

    Establishing the first pan-European Registry for rare bone and mineral disorders: EuRR-Bone oleh Corinna Grasemann, Marina Mordenti, Inês Alves, Rebecca Skarberg, Ondrej Soucek, Marco Roos, M. Kassim Javaid, S. Faisal Ahmed, Agnès Lignart, Klaus Mohnike, Wolfgang Högler, Luca Sangiorgi, Natasha M. Appelman-Dijkstra

    Diterbitkan 2020-10-01
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  17. 17
    Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival

    Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival oleh 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

    Diterbitkan 2022-02-01
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  18. 18
    Translation and Cross-Cultural Adaptation of the Pediatric Outcomes Data Collection Instrument into the Italian Language

    Translation and Cross-Cultural Adaptation of the Pediatric Outcomes Data Collection Instrument into the Italian Language oleh Giovanni Trisolino, Stefano Stallone, Paola Zarantonello, Andrea Evangelista, Manila Boarini, Jacopo Faranda Cordella, Luca Lerma, Luisa Veronesi, Cosma Caterina Guerra, Luca Sangiorgi, Giovanni Luigi Di Gennaro, Renato Maria Toniolo

    Diterbitkan 2022-06-01
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  19. 19
    Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases

    Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases oleh Marta del Álamo, Christoph Bührer, Dirk Fisher, Matthias Griese, Paul Lingor, Giovanni Palladini, Nicolas Sireau, Virginie Hivert, Luca Sangiorgi, Florence Guillot, Juliane Halftermeyer, Lenka Soucková, Kristýna Nosková, Regina Demlová

    Diterbitkan 2022-09-01
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  20. 20
    The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

    The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks oleh Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti, Ilaria Meloni, Maria Teresa Pellico, Chiara Barzaghi, Chiuhui Mary Wang, Lucia Monaco, Mirella Filocamo

    Diterbitkan 2016-10-01
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