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Marco SALVATORE

National center for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit · Istituto Superiore di Sanità, Rome

https://researchid.co/marco.salvatore
@iss.it
63Scopus Publications

Recent Scopus Publications

  1. Real-World Effectiveness of Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis: A 24-Month Italian National Registry Study
    Journal of Clinical Medicine, 2026
  2. The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis
    European Journal of Medical Genetics, 2026
  3. Pregnancies in women with cystic fibrosis in the era of CFTR modulators: Current challenges and future perspectives. Insights from the Italian cystic fibrosis registry
    Journal of Cystic Fibrosis, 2026
  4. Cardiological Manifestations in Males and Females Affected by NAA10-Related Disease
    American Journal of Medical Genetics Part A, 2025
  5. Sinus of Valsalva Aneurysm Is a Major Feature of FLNA (Filamin A) Loss-of-Function Variants
    Jacc Case Reports, 2025

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