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Diagnostics (Basel, Switzerland)|December 1, 2020
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian PatientsTiziana Fioretti, Luigi Auricchio, Angelo Piccirillo, et al.International Journal of Neonatal Screening|August 22, 2025
Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential PerspectivesAdelaide Ambrosio, Tiziana Fioretti, Barbara D'Andrea, et al.Diagnostics (Basel, Switzerland)|August 12, 2023
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with BurosumabCarmine Pecoraro, Tiziana Fioretti, Assunta Perruno, et al.Biomedicines|May 25, 2024
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic IchthyosisTiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, et al.Pageof 1