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Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline.
Germani A, Libi F, Maggi S, Stanzani G, Lombardi A, Pellegrini P, Mattei M, De Marchis L, Amanti C, Pizzuti A, Torrisi MR, Piane M. Germani A, et al. Among authors: piane m. Oncotarget. 2018 Sep 14;9(72):33648-33655. doi: 10.18632/oncotarget.26000. eCollection 2018 Sep 14. Oncotarget. 2018. PMID: 30263092 Free PMC article.
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.
Magrì D, Mastromarino V, Gallo G, Zachara E, Re F, Agostoni P, Giordano D, Rubattu S, Forte M, Cotugno M, Torrisi MR, Petrucci S, Germani A, Savio C, Maruotti A, Volpe M, Autore C, Piane M, Musumeci B. Magrì D, et al. Among authors: piane m. J Clin Med. 2020 May 28;9(6):1636. doi: 10.3390/jcm9061636. J Clin Med. 2020. PMID: 32481709 Free PMC article.
Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
Germani A, Petrucci S, De Marchis L, Libi F, Savio C, Amanti C, Bonifacino A, Campanella B, Capalbo C, Lombardi A, Maggi S, Mattei M, Osti MF, Pellegrini P, Speranza A, Stanzani G, Vitale V, Pizzuti A, Torrisi MR, Piane M. Germani A, et al. Among authors: piane m. J Clin Med. 2020 Sep 17;9(9):3003. doi: 10.3390/jcm9093003. J Clin Med. 2020. PMID: 32957588 Free PMC article.
55 results