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408 results

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Page 1
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.
Savastano MC, Placidi G, Fossataro C, Giannuzzi F, D'Onofrio NC, Hu L, Cestrone V, D'Agostino E, Biagini I, Paris L, Coppa G, Rizzo C, Kilian R, Chiurazzi P, Bertelli M, Maltese PE, Falsini B, Rizzo S. Savastano MC, et al. Among authors: bertelli m. Transl Vis Sci Technol. 2024 Aug 1;13(8):44. doi: 10.1167/tvst.13.8.44. Transl Vis Sci Technol. 2024. PMID: 39212608 Free PMC article.
Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies.
Galli-Resta L, Falsini B, Rossi G, Piccardi M, Ziccardi L, Fadda A, Minnella A, Marangoni D, Placidi G, Campagna F, Abed E, Bertelli M, Zuntini M, Resta G. Galli-Resta L, et al. Among authors: bertelli m. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3759-68. doi: 10.1167/iovs.15-18313. Invest Ophthalmol Vis Sci. 2016. PMID: 27415794
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.
Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, D'Agruma L, Falsini B, Wang X, Bertelli M. Nicoletti A, et al. Among authors: bertelli m. Genet Test Mol Biomarkers. 2017 Feb;21(2):116-121. doi: 10.1089/gtmb.2016.0257. Epub 2016 Dec 20. Genet Test Mol Biomarkers. 2017. PMID: 27997221 Free PMC article.
Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.
Maltese PE, Orlova N, Krasikova E, Emelyanchik E, Cheremisina A, Kuscaeva A, Salmina A, Miotto R, Bonizzato A, Guerri G, Zuntini M, Nicoulina S, Bertelli M. Maltese PE, et al. Among authors: bertelli m. Int Heart J. 2017 Feb 7;58(1):81-87. doi: 10.1536/ihj.16-133. Epub 2016 Dec 21. Int Heart J. 2017. PMID: 28003625 Free article.
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier.
Maltese P, Ziccardi L, Iarossi G, Gusson E, D'Agruma L, Marchini G, Buzzonetti L, Nicoletti A, Benedetti S, Bertelli M. Maltese P, et al. Among authors: bertelli m. Ophthalmic Genet. 2017 Sep-Oct;38(5):473-479. doi: 10.1080/13816810.2016.1253107. Epub 2017 Feb 1. Ophthalmic Genet. 2017. PMID: 28145787
408 results