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Department of Rare Skeletal Disorders

Scholars20
Papers7
Citations0
Related Papers (7)
Publication Date
Opportunities and challenges in automated coding of electronic health records: a pilot study for rare disease registries
err2026-07-09
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errDP Damiano Paoli; ML Marcella Lanza; FB Federico Banchelli; MB Manila Boarini; SB Stefano Borghi; LS Luca Sangiorgi; MM Marina Mordenti
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Fibrous dysplasia: clinical and pathologic characteristics, surgical approaches, and outcomes in a large Italian cohort
err2026-07-05
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errMarina Mordenti; Giovanni Trisolino; Alice Moroni; Stefania Claudia Parisi; Susanna Nanni; Eric Lodewijk Staals; Alberto Righi; Marco Gambarotti; Davide Maria Donati; Luca Sangiorgi
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MuSA: a Nextflow pipeline for deep, reproducible annotation and clinical ranking of genomic variants
err2026-06-16
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errD. Scognamiglio; E. Bonetti; A. Moroni; L. Sangiorgi; E. Pedrini
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European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework
err2026-06-11
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errFF Fernanda Fortunato; RS Rita Selvatici; JK Jan Kirschner; SS Stefaan Sansen; EA Emanuele Agolini; SO Silvia Ottombrino; EB Enrico Bertini; AN Antonio Novelli; ME Moshe Einhorn; LM Leslie Matalonga; SB Sergi Beltran; IG Ivo G. Gut; AM Alberto M. Pereira; OH Olaf Hiort; FS Franz Schaefer; AV Alain Verloes; AW Ansgar W. Lohse; AA Arthur A. M. Wilde; CB Christine Bodemer; GJ Guillaume Jondeau; HD Hélène Dollfus; HG Holm Graessner; IM Irene M. J. Mathijssen; IL Ikram L'khssim; JB Jean-Yves Blay; LS Luca Sangiorgi; PF Pierre Fenaux; MD María del Mar Mañú Pereira; VG Victoria Gutiérrez Valle; MM Marta Mosca; NH Nicoline Hoogerbrugge; RW Rene Wijnen; TE Teresinha Evangelista; CD Carla D'Angelo; TO Thomas O. F. Wagner; WF Wout F. J. Feitz; RL Ruth Ladenstein; ZD Zoltan Dobai; NW Nico Wulffraat; NR Nicola Ruperto; PJ Paloma Jara Vega; CM Cinzia Maria Bellettato; MS Maurizio Scarpa; MO Michela Onali; ST Sébile Tchaicha; AA Alexis Arzimanoglou; JO Jun Oh; DL Dominic Lenz; BT Birute Tumiene; AZ Aldona Zygmunt; AF Alessandra Ferlini
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Osteogenesis imperfecta: a registry-based study of the clinical symptoms of disease in a large cohort of Italian patients
err2026-05-19
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errMM Marina Mordenti; JC James Clancy; MD Matthew Dyer; MB Manila Boarini; FB Federico Banchelli; CW Clive Whitcher; ML Marcella Lanza; LS Luca Sangiorgi
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European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025
err2026-04-14
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errHolm Graessner; Sophie Ripp; Alberto M. Pereira; Franz Schaefer; Irene Mathijssen; Jean-Yves Blay; Peter F. A. Mulders; Teresinha Evangelista; Marjolijn J. L. Ligtenberg; Arthur A. M. Wilde; Ruth Ladenstein; Ansgar W. Lohse; Marta Mosca; Joost Frans Swart; Francisco Hernández; Pierre Fenaux; Hélène Dollfus; Alain Verloes; Thomas Wagner; Christine Bodemer; Rene Wijnen; Maurizio Scarpa; Guillaume Jondeau; Birutė Tumienė; Sandra Gallina; Alexis Arzimanoglou; Luca Sangiorgi
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