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Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.
Stellacci E, Niceta M, Bruselles A, Straface E, Tatti M, Carvetta M, Mancini C, Cecchetti S, Parravano M, Barbano L, Varano M, Tartaglia M, Ziccardi L, Cordeddu V. Stellacci E, et al. Among authors: barbano l. Int J Mol Sci. 2024 Jul 30;25(15):8313. doi: 10.3390/ijms25158313. Int J Mol Sci. 2024. PMID: 39125883 Free PMC article.
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
Ziccardi L, Niceta M, Stellacci E, Ciolfi A, Tatti M, Bruselles A, Mancini C, Barbano L, Cecchetti S, Costanzo E, Cappa M, Parravano M, Varano M, Tartaglia M, Cordeddu V. Ziccardi L, et al. Among authors: barbano l. Int J Mol Sci. 2022 Nov 24;23(23):14656. doi: 10.3390/ijms232314656. Int J Mol Sci. 2022. PMID: 36498982 Free PMC article.
Effects of Macuprev® Supplementation in Age-Related Macular Degeneration: A Double-Blind Randomized Morpho-Functional Study Along 6 Months of Follow-Up.
Parravano M, Tedeschi M, Manca D, Costanzo E, Di Renzo A, Giorno P, Barbano L, Ziccardi L, Varano M, Parisi V. Parravano M, et al. Among authors: barbano l. Adv Ther. 2019 Sep;36(9):2493-2505. doi: 10.1007/s12325-019-01016-2. Epub 2019 Jun 25. Adv Ther. 2019. PMID: 31243641 Free PMC article. Clinical Trial.
Morpho-Functional Macular Assessment in a Case of Facioscapulohumeral Muscular Dystrophy: Photoreceptor Degeneration as Possible Cause for Reduced Visual Acuity over Three Years of Follow-Up.
Parravano M, Costanzo E, Barbano L, Viggiano P, De Geronimo D, Antonelli G, Parisi V, Varano M, Ziccardi L. Parravano M, et al. Among authors: barbano l. Diagnostics (Basel). 2022 Nov 28;12(12):2977. doi: 10.3390/diagnostics12122977. Diagnostics (Basel). 2022. PMID: 36552982 Free PMC article.
57 results