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Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A. Bigoni S, et al. Among authors: salvatore m. Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018. Front Genet. 2019. PMID: 30740127 Free PMC article.
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 role of microRNAs in the biology of rare diseases.
Salvatore M, Magrelli A, Taruscio D. Salvatore M, et al. Int J Mol Sci. 2011;12(10):6733-42. doi: 10.3390/ijms12106733. Epub 2011 Oct 11. Int J Mol Sci. 2011. PMID: 22072915 Free PMC article. Review.
The Italian pilot external quality assessment program for cystic fibrosis sweat test.
Salvatore M, Floridia G, Amato A, Censi F, Carta C, de Stefano MC, Ferrari G, Tosto F, Capoluongo E, Caruso U, Castaldo G, Cirilli N, Corbetta C, Padoan R, Raia V, Taruscio D. Salvatore M, et al. Clin Biochem. 2016 May;49(7-8):601-5. doi: 10.1016/j.clinbiochem.2015.12.014. Epub 2016 Feb 3. Clin Biochem. 2016. PMID: 26851350
1,320 results