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Experimental and Molecular Pathology|November 10, 2019
Evaluation of cutaneous, oral and intestinal microbiota in patients affected by pemphigus and bullous pemphigoid: A pilot studyGiovanni Luca Scaglione, Luca Fania, Elisa De Paolis, et al.
Molecular Biology Reports|December 14, 2019
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting AnalysisAngelo Minucci, Giorgia Mazzuccato, Marco D'Indinosante, et al.
Molecular Diagnosis & Therapy|June 17, 2017
Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer SyndromePaola Concolino, Roberta Rizza, Karl Hackmann, 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.
Annali Dell'Istituto Superiore Di Sanita|April 4, 2020
Identification of two novel LDLR variants by Next Generation SequencingSimona Moffa, Giorgia Mazzuccato, Maria De Bonis, et al.
Experimental and Molecular Pathology|March 31, 2019
High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical settingMaria De Bonis, Elisa De Paolis, Giovanni Luca Scaglione, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 4, 2017
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 laboratoryAngelo Minucci, Elisa De Paolis, Paola Concolino, et al.
Cancers|April 23, 2022
Role of Homologous Recombination Repair (HRR) Genes in Uterine Leiomyosarcomas: A Retrospective AnalysisFrancesca Ciccarone, Matteo Bruno, Elisa De Paolis, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 26, 2018
A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH)Elisa De Paolis, Angelo Minucci, Maria De Bonis, et al.
Molecular Biology Reports|June 20, 2023
Unexpected finding of a rare pathogenic germline BRCA1 variant in an intrahepatic cholangiocarcinoma using the Oncomine Focus DNA assay: clinical and diagnostic implicationsMaria De Bonis, Francesco Mannavola, Lisa Salvatore, et al.
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