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The Application of Clinical Genetics|November 19, 2025
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene DeletionMassimiliano Chetta, Annamaria Salamandra, Marina Tarsitano, et al.Gene|December 10, 2013
Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowthMarina Tarsitano, Carlo Ceglia, Antonio Novelli, et al.Life (Basel, Switzerland)|February 27, 2026
Alteplase and Angioedema: Can Clinical Exome Sequencing Redefine the Paradigm?Marina Tarsitano, Maurizio Russo, Vincenzo Andreone, et al.Journal of Investigational Allergology & Clinical Immunology|March 5, 2026
Effect of Recombinant Tissue-Type Plasminogen Activator on Peripheral Blood Mononuclear Cells of Patients With Alteplase-Associated AngioedemaFrancesco Palestra, Maria Bova, Giovanna Servillo, et al.Journal of Clinical Medicine|September 28, 2021
SARS-CoV-2 in Urine May Predict a Severe Evolution of COVID-19Alessandro Perrella, Mario Brita, Francesco Coletta, et al.Pathology Oncology Research : POR|February 17, 2023
FACILITATE: A real-world, multicenter, prospective study investigating the utility of a rapid, fully automated real-time PCR assay versus local reference methods for detecting epidermal growth factor receptor variants in NSCLCAnke Behnke, Anne Cayre, Giovanna De Maglio, et al.Cancer Diagnosis & Prognosis|January 12, 2023
Neutrophil-to-Lymphocyte Ratio Is a Major Prognostic Factor in Non-small Cell Lung Carcinoma Patients Undergoing First Line Immunotherapy With PembrolizumabFrancesco Jacopo Romano, Riccardo Ronga, Francesca Ambrosio, et al.Clinical Genetics|February 1, 2025
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier ApproachRoberta Petillo, Ilaria De Maggio, Carmelo Piscopo, et al.Pageof 2