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Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E, Tilocca B, Lombardi C, De Bonis M, Concolino P, Onori ME, Ricciardi Tenore C, Perrucci A, Roncada P, Capoluongo E, Urbani A, Minucci A, Santonocito C. De Paolis E, et al. Among authors: onori me. Genes (Basel). 2023 Aug 11;14(8):1608. doi: 10.3390/genes14081608. Genes (Basel). 2023. PMID: 37628659 Free PMC article.
Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.
Concolino P, De Paolis E, Moffa S, Onori ME, Soldovieri L, Ricciardi Tenore C, De Bonis M, Rabacchi C, Santonocito C, Rinelli M, Calandra S, Giaccari A, Urbani A, Minucci A. Concolino P, et al. Among authors: onori me. Genes (Basel). 2023 Jun 16;14(6):1275. doi: 10.3390/genes14061275. Genes (Basel). 2023. PMID: 37372455 Free PMC article.
45 results