Showing results (21-30 of 40) with videos related to
Sort By:
Pageof 4
Frontiers in Pharmacology|June 23, 2022
Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare DiseasesElena Pedrini, Antonella Negro, Eugenio Di Brino, et al.Human Mutation|October 8, 2009
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)Ivy Jennes, Elena Pedrini, Monia Zuntini, et al.The Journal of Dermatology|July 14, 2020
Case of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?Ambra Di Altobrando, Iria Neri, Carlotta Gurioli, et al.International Journal of Molecular Sciences|May 14, 2025
Further Evidence of Early-Onset Osteoporosis and Bone Fractures as a New <i>FGFR2</i>-Related PhenotypeAlice Moroni, Elena Pedrini, Morena Tremosini, et al.Gene|November 1, 2011
Identification and functional characterization of the human EXT1 promoter regionIvy Jennes, Monia Zuntini, Kirsten Mees, et al.Clinical Case Reports|February 18, 2021
Familiar osteopoikilosis: Case report with differential diagnosis and review of the literatureAgostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, et al.Frontiers in Endocrinology|January 26, 2024
Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patientsMarina Mordenti, Manila Boarini, Federico Banchelli, et al.European Journal of Human Genetics : EJHG|March 20, 2019
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patientsMargherita Maioli, Maria Gnoli, Manila Boarini, et al.Orphanet Journal of Rare Diseases|February 13, 2024
Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case seriesMaria Gnoli, Marco Gambarotti, Alberto Righi, et al.Journal of Imaging|June 25, 2026
Imaging of Fibrous Dysplasia: A Comprehensive In-Depth Analysis of Monostotic, Polyostotic, Syndromic Forms, and Bone Sarcoma DevelopmentPaolo Spinnato, Nicola Marrone, Domenico Romeo, et al.Pageof 4