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Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Sciacchitano S, De Francesco GP, Piane M, Savio C, De Vitis C, Petrucci S, Salvati V, Goldoni M, Fabiani M, Mesoraca A, Micolonghi C, Torres B, Piccinetti A, Pippi R, Mancini R. Sciacchitano S, et al. Among authors: fabiani m. Diagnostics (Basel). 2022 Nov 30;12(12):2997. doi: 10.3390/diagnostics12122997. Diagnostics (Basel). 2022. PMID: 36553004 Free PMC article.
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.
Micolonghi C, Fabiani M, Pagannone E, Savio C, Ricci M, Caroselli S, Gambioli V, Musumeci B, Germani A, Tini G, Autore C, Pizzuti A, Visco V, Rubattu S, Petrucci S, Piane M. Micolonghi C, et al. Among authors: fabiani m. Curr Issues Mol Biol. 2023 Mar 15;45(3):2422-2430. doi: 10.3390/cimb45030157. Curr Issues Mol Biol. 2023. PMID: 36975527 Free PMC article.
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM. Capalbo A, et al. Among authors: fabiani m. PLoS Genet. 2019 Oct 7;15(10):e1008409. doi: 10.1371/journal.pgen.1008409. eCollection 2019 Oct. PLoS Genet. 2019. PMID: 31589614 Free PMC article.
Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene.
Fabiani M, Libotte F, Margiotti K, Tannous DKI, Sparacino D, D'Aleo MP, Monaco F, Dello Russo C, Mesoraca A, Giorlandino C. Fabiani M, et al. Genes (Basel). 2022 Dec 2;13(12):2269. doi: 10.3390/genes13122269. Genes (Basel). 2022. PMID: 36553536 Free PMC article.
428 results