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Diagnostics (Basel, Switzerland)|February 11, 2021
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal DisordersMaria Valeria Esposito, Marika Comegna, Gustavo Cernera, et al.
Frontiers in Pediatrics|February 7, 2022
Step-Up Approach for Sodium Butyrate Treatment in Children With Congenital Chloride DiarrheaLavinia Di Meglio, Giusi Grimaldi, Francesco Esposito, et al.
Pediatric Research|November 11, 2020
Congenital chloride diarrhea clinical features and management: a systematic reviewLavinia Di Meglio, Giuseppe Castaldo, Caterina Mosca, et al.
Biomed Research International|December 15, 2015
Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesVincenza Precone, Valentina Del Monaco, Maria Valeria Esposito, et al.
Journal of Clinical Medicine|December 2, 2020
Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF CarriersMaria Valeria Esposito, Achille Aveta, Marika Comegna, et al.
Cancers|October 2, 2019
A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA RepairMaria Valeria Esposito, Giuseppina Minopoli, Luciana Esposito, et al.
BMC Cancer|January 4, 2022
Microbiome composition indicate dysbiosis and lower richness in tumor breast tissues compared to healthy adjacent paired tissue, within the same womenMaria Valeria Esposito, Bruno Fosso, Marcella Nunziato, et al.
Plos One|November 17, 2011
Improving the estimation of celiac disease sibling risk by non-HLA genesValentina Izzo, Michele Pinelli, Nadia Tinto, et al.
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.
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