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The Undiagnosed Diseases Network International: Five years and more!
Taruscio D, Baynam G, Cederroth H, Groft SC, Klee EW, Kosaki K, Lasko P, Melegh B, Riess O, Salvatore M, Gahl WA. Taruscio D, et al. Among authors: salvatore m. Mol Genet Metab. 2020 Apr;129(4):243-254. doi: 10.1016/j.ymgme.2020.01.004. Epub 2020 Jan 17. Mol Genet Metab. 2020. PMID: 32033911
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
Taruscio D, Falbo V, Floridia G, Salvatore M, Pescucci C, Cantafora A, Marongiu C, Baroncini A, Calzolari E, Cao A, Castaldo G, Bricarelli FD, Guanti G, Nitsch L, Pignatti PF, Rosatelli C, Salvatore F, Zuffardi O. Taruscio D, et al. Among authors: salvatore f, salvatore m. Clin Chem Lab Med. 2004;42(8):915-21. doi: 10.1515/CCLM.2004.148. Clin Chem Lab Med. 2004. PMID: 15387442
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
Berardinelli F, di Masi A, Salvatore M, Banerjee S, Myung K, De Villartay JP, Revy P, Plebani A, Soresina A, Taruscio D, Tanzarella C, Antoccia A. Berardinelli F, et al. Among authors: salvatore m. Eur J Med Genet. 2007 May-Jun;50(3):176-87. doi: 10.1016/j.ejmg.2007.01.006. Epub 2007 Feb 21. Eur J Med Genet. 2007. PMID: 17395558
The Italian external quality assessment scheme in classical cytogenetics: four years of activity.
Floridia G, Falbo V, Censi F, Tosto F, Salvatore M, Baroncini A, Battaglia P, Conti A, Donti E, La Starza R, Nitsch L, Pierluigi M, Piombo G, Susca F, Mancini M, Mecucci C, Calzolari E, Dagna Bricarelli F, Guanti G, Taruscio D. Floridia G, et al. Among authors: salvatore m. Community Genet. 2008;11(5):295-303. doi: 10.1159/000121401. Epub 2008 May 20. Community Genet. 2008. PMID: 18493128
1,377 results