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Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory.
Minucci A, De Paolis E, Concolino P, De Bonis M, Rizza R, Canu G, Scaglione GL, Mignone F, Scambia G, Zuppi C, Capoluongo E. Minucci A, et al. Among authors: capoluongo e. Clin Chim Acta. 2017 Jul;470:83-92. doi: 10.1016/j.cca.2017.04.026. Epub 2017 Apr 30. Clin Chim Acta. 2017. PMID: 28465148
Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature.
Cappellani D, Brancatella A, Kaufmann M, Minucci A, Vignali E, Canale D, De Paolis E, Capoluongo E, Cetani F, Jones G, Marcocci C. Cappellani D, et al. Among authors: capoluongo e. Case Rep Endocrinol. 2019 Apr 8;2019:4982621. doi: 10.1155/2019/4982621. eCollection 2019. Case Rep Endocrinol. 2019. PMID: 31089432 Free PMC article.
290 results