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Page 1
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: taruscio d. Community Genet. 2008;11(5):295-303. doi: 10.1159/000121401. Epub 2008 May 20. Community Genet. 2008. PMID: 18493128
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. 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: taruscio d. 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
231 results