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Metabolism: Clinical and Experimental|May 20, 2017
CYP21A2 intronic variants causing 21-hydroxylase deficiencyPaola Concolino, Roberta Rizza, Alessandra Costella, et al.
Case Reports in Genetics|April 30, 2015
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic FibrosisRossana Molinario, Sara Palumbo, Paola Concolino, et al.
Molecular Biology Reports|August 19, 2020
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1Andrea Corsello, Carmine Bruno, Roberta Rizza, et al.
Breast Cancer Research and Treatment|May 11, 2017
Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndromePaola Concolino, Roberta Rizza, Karl Hackmann, et al.
Molecular Diagnosis & Therapy|December 4, 2018
Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer PatientsRoberta Rizza, Karl Hackmann, Ida Paris, 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.
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.
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