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Pediatric Nephrology (Berlin, Germany)|July 11, 2018
Expert consensus guidelines for the genetic diagnosis of Alport syndromeJudy Savige, Francesca Ariani, Francesca Mari, et al.Genes and Immunity|December 25, 2021
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patientsStefania Mantovani, Sergio Daga, Chiara Fallerini, et al.Nature Genetics|March 13, 2002
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni, Maddalena Muscettola, Martine Raynaud, et al.Cancer Science|February 3, 2009
Array comparative genomic hybridization in retinoma and retinoblastoma tissuesKatia Sampieri, Mariangela Amenduni, Filomena Tiziana Papa, et al.Computational and Structural Biotechnology Journal|November 24, 2025
Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalenceElena Pasquinelli, Giulia Rollo, Flavia Tinella, et al.Plos One|November 18, 2020
Clinical and molecular characterization of COVID-19 hospitalized patientsElisa Benetti, Annarita Giliberti, Arianna Emiliozzi, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 9, 2009
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcomeElena Marcocci, Vera Uliana, Mirella Bruttini, et al.Brain Sciences|August 6, 2021
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical PresentationsFloriana Valentino, Lucia Pia Bruno, Gabriella Doddato, et al.Journal of Medical Genetics|January 11, 2015
Evidence of digenic inheritance in Alport syndromeMaria Antonietta Mencarelli, Laurence Heidet, Helen Storey, et al.International Journal of Molecular Sciences|December 24, 2021
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome SequencingLucia Pia Bruno, Gabriella Doddato, Floriana Valentino, et al.Pageof 5