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Genes|October 26, 2024
<i>G6PD Potenza</i>: A Novel Pathogenic Variant Broadening the Mutational Landscape in the Italian PopulationClaudio Ricciardi Tenore, Eugenia Tulli, Claudia Calò, et al.Genes|August 26, 2023
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian CohortElisa De Paolis, Bruno Tilocca, Carla Lombardi, et al.International Journal of Molecular Sciences|April 27, 2024
Multiple Sclerosis Onset before and after COVID-19 Vaccination: Can HLA Haplotype Be Determinant?Assunta Bianco, Gabriele Di Sante, Francesca Colò, et al.Genes|September 27, 2025
Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS StudyAlessia Perrucci, Maria De Bonis, Giulia Maneri, et al.Expert Review of Molecular Diagnostics|August 27, 2015
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature reviewAngelo Minucci, Giovanni Scambia, Concetta Santonocito, et al.Genes|June 28, 2023
Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian FamilyPaola Concolino, Elisa De Paolis, Simona Moffa, et al.Cancers|June 26, 2025
<i>BRCA</i> Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) <i>BRCA2</i> VariantLaura De Marchis, Alain Jonathan Gelibter, Giulia Mammone, et al.Cancers|November 2, 2019
Automated Workflow for Somatic and Germline Next Generation Sequencing Analysis in Routine Clinical Cancer DiagnosticsLucia Anna Muscarella, Federico Pio Fabrizio, Maria De Bonis, et al.Cancers|December 23, 2022
A Computational Framework for Comprehensive Genomic Profiling in Solid Cancers: The Analytical Performance of a High-Throughput Assay for Small and Copy Number VariantsLuciano Giacò, Fernando Palluzzi, Davide Guido, et al.International Journal of Molecular Sciences|February 10, 2024
The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?Sabrina Chiloiro, Ettore Domenico Capoluongo, Flavia Costanza, et al.Pageof 6