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Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Marzano F, Chiara M, Consiglio A, D'Amato G, Gentile M, Mirabelli V, Piane M, Savio C, Fabiani M, D'Elia D, Sbisà E, Scarano G, Lonardo F, Tullo A, Pesole G, Faienza MF. Marzano F, et al. Among authors: mirabelli v. Int J Mol Sci. 2023 Jul 31;24(15):12291. doi: 10.3390/ijms241512291. Int J Mol Sci. 2023. PMID: 37569667 Free PMC article.
Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship.
Tiscia GL, Favuzzi G, Lupone MR, Cappucci F, Schiavulli M, Mirabelli V, D'Andrea G, Chinni E, Giuliani N, Caliandro R, Grandone E. Tiscia GL, et al. Among authors: mirabelli v. Hum Genome Var. 2017 Nov 9;4:17043. doi: 10.1038/hgv.2017.43. eCollection 2017. Hum Genome Var. 2017. PMID: 29138690 Free PMC article.