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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
Saglia C, Bracciamà V, Trotta L, Mioli F, Faini AC, Brach Del Prever GM, Kalantari S, Luca M, Romeo CM, Scolari C, Peruzzi L, Calvo PL, Mussa A, Fenoglio R, Roccatello D, Alberti C, Carli D, Amoroso A, Deaglio S, Vaisitti T. Saglia C, et al. Among authors: scolari c. BMC Med Genomics. 2023 Nov 27;16(1):303. doi: 10.1186/s12920-023-01747-w. BMC Med Genomics. 2023. PMID: 38012624 Free PMC article.
Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
Saglia C, Arruga F, Scolari C, Kalantari S, Albanese S, Bracciamà V, Corso Faini A, Brach Del Prever G, Luca M, Romeo C, Mioli F, Migliorero M, Tessaris D, Carli D, Amoroso A, Vaisitti T, De Sanctis L, Deaglio S. Saglia C, et al. Among authors: scolari c. Eur J Endocrinol. 2024 Mar 30;190(4):296-306. doi: 10.1093/ejendo/lvae035. Eur J Endocrinol. 2024. PMID: 38561929
A systematic review of salvage therapies in refractory metastatic colorectal cancer.
Petrelli F, Perego G, Ghidini A, Ghidini M, Borgonovo K, Scolari C, Nozza R, Rampulla V, Costanzo A, Varricchio A, Rausa E, Pietrantonio F, Zaniboni A. Petrelli F, et al. Among authors: scolari c. Int J Colorectal Dis. 2020 May;35(5):783-794. doi: 10.1007/s00384-020-03571-5. Epub 2020 Mar 26. Int J Colorectal Dis. 2020. PMID: 32219509
Point-of-care screening, prevalence, and risk factors for hepatitis B infection among 3,728 mainly undocumented migrants from non-EU countries in northern Italy.
El-Hamad I, Pezzoli MC, Chiari E, Scarcella C, Vassallo F, Puoti M, Ciccaglione A, Ciccozzi M, Scalzini A, Castelli F; ad-hoc Working Group for Hepatitis B in migrants. El-Hamad I, et al. J Travel Med. 2015 Mar-Apr;22(2):78-86. doi: 10.1111/jtm.12176. Epub 2014 Nov 26. J Travel Med. 2015. PMID: 25424439 Free article.
26 results