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Genes|May 14, 2020
Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity RiskGiuseppe Limongelli, Marcella Nunziato, Cristina Mazzaccara, et al.
International Journal of Molecular Sciences|December 24, 2016
A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNAMaria Valeria Esposito, Marcella Nunziato, Flavio Starnone, et al.
Frontiers in Oncology|August 6, 2021
Case Report: Discovery a Novel SARS-CoV-2 Variant in a Six-Months Long-Term Swab Positive Female Suffering From Non-Hodgkin LymphomaEttore Capoluongo, Carmela Nardelli, Maria Valeria Esposito, et al.
Biomolecules|October 27, 2022
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon GenesCristina Mazzaccara, Raffaella Lombardi, Bruno Mirra, et al.
Diagnostics (Basel, Switzerland)|January 1, 2020
Setup of Quantitative PCR for Oral Neisseria spp. Evaluation in Celiac Disease DiagnosisMaria Valeria Esposito, Carmela Nardelli, Ilaria Granata, et al.
Analytica Chimica Acta|November 29, 2018
A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot studyMarcella Nunziato, Maria Valeria Esposito, Flavio Starnone, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 5, 2024
Identification of an ultra-rare Alu insertion in the CFTR gene: Pitfalls and challenges in genetic test interpretationSperanza Esposito, Immacolata Zollo, Valeria Rachela Villella, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 3, 2023
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot studyMarcella Nunziato, Flavio Starnone, Sonia Giordano, et al.
International Journal of Molecular Sciences|January 10, 2017
The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation SequencingValeria D'Argenio, Marielva Torino, Vincenza Precone, et al.
Frontiers in Medicine|August 29, 2022
Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern ItalyMarcella Nunziato, Federica Di Maggio, Matilde Pensabene, et al.
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