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Italian Journal of Pediatrics|September 15, 2020
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases networkMarco Salvatore, Agata Polizzi, Maria Chiara De Stefano, et al.
Journal of Nephrology|November 23, 2020
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experienceTiziana Vaisitti, Monica Sorbini, Martina Callegari, et al.
Clinical and Experimental Rheumatology|May 3, 2020
Pilot prospective open, single-arm multicentre study on off-label use of tocilizumab in patients with severe COVID-19Savino Sciascia, Franco Aprà, Alessandra Baffa, et al.
Frontiers in Public Health|March 13, 2025
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutionsSimone Baldovino, Savino Sciascia, Claudio Carta, et al.
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