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

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

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

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

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

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

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Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations by Paolo Spinnato, Elena Pedrini, Miriana Rosaria Petrera, Paola Zarantonello, Giovanni Trisolino, Luca Sangiorgi, Maria Carpenzano, Amandine Crombé, Cecilia Tetta

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

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

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

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

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

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

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Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions by 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

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Clinical, Histological, and Molecular Features of Solitary Fibrous Tumor of Bone: A Single Institution Retrospective Review by Giuseppe Bianchi, Debora Lana, Marco Gambarotti, Cristina Ferrari, Marta Sbaraglia, Elena Pedrini, Laura Pazzaglia, Luca Sangiorgi, Isabella Bartolotti, Angelo Paolo Dei Tos, Katia Scotlandi, Alberto Righi

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Establishing the first pan-European Registry for rare bone and mineral disorders: EuRR-Bone by 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

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

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Translation and Cross-Cultural Adaptation of the Pediatric Outcomes Data Collection Instrument into the Italian Language by 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

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Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases by 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

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The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks by 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

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