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Molecular Diagnosis & Therapy|August 7, 2023
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase DeficiencyPaola Concolino, Alessia Perrucci, Cinzia Carrozza, et al.Journal of Clinical Medicine|July 9, 2022
Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase DeficiencyRosa Maria Paragliola, Alessia Perrucci, Laura Foca, et al.International Journal of Molecular Sciences|November 27, 2025
Genomics and Epigenomics Approaches for the Quantification of Circulating Tumor DNA in Liquid Biopsy: Relevance of a Multimodal StrategyElisa De Paolis, Alessia Perrucci, Gabriele Albertini Petroni, et al.International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|August 26, 2022
<i>BRCA</i> testing on buccal swab to improve access to healthcare and cancer prevention: a performance evaluationElisa De Paolis, Alessia Perrucci, Claudia Marchetti, et al.Virchows Archiv : an International Journal of Pathology|January 7, 2026
Uterine cellular leiomyoma with a novel HMGA2::PLCZ1 fusion and aberrant cyclin D1 expression: expanding the molecular spectrum and highlighting a diagnostic pitfallAntonio d'Amati, Nadine Narducci, Angelo Minucci, et al.Virchows Archiv : an International Journal of Pathology|April 2, 2026
Follicular adenoma of the thyroid with hyalinizing trabecular tumor-like patternEsther Diana Rossi, Alessia Piermattei, Angelo Minucci, et al.Molecular Biology Reports|November 30, 2021
A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemiaSimona Moffa, Maria Elisabetta Onori, Elisa De Paolis, et al.Genes|December 30, 2025
<i>RET</i> Gene Alterations in Clinical Practice: A Comprehensive Review and Database UpdateClaudio Ricciardi Tenore, Eugenia Tulli, Alessia Perrucci, et al.Cancers|September 23, 2020
Direct Antiviral Treatments for Hepatitis C Virus Have Off-Target Effects of Oncologic Relevance in Hepatocellular CarcinomaCatia Giovannini, Francesca Fornari, Valentina Indio, et al.Molecular Biology Reports|July 25, 2024
The novel CFTR haplotype E583G/F508del in CFTR-related disorderElisa De Paolis, Bruno Tilocca, Riccardo Inchingolo, et al.Pageof 2