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Page 1
Amplification of the Xq28 FRAXE repeats: extreme phenotype variability?
Murgia A, Polli R, Vinanzi C, Salis M, Drigo P, Artifoni L, Zacchello F. Murgia A, et al. Among authors: polli r. Am J Med Genet. 1996 Aug 9;64(2):441-4. doi: 10.1002/(SICI)1096-8628(19960809)64:2<441::AID-AJMG41>3.0.CO;2-C. Am J Med Genet. 1996. PMID: 8844100
FRAXA and FRAXE: new tools for the diagnosis of mental retardation.
Murgia A, Vinanzi C, Polli R, Artifoni L, Zacchello F. Murgia A, et al. Among authors: polli r. Acta Genet Med Gemellol (Roma). 1996;45(1-2):295-7. doi: 10.1017/s0001566000001501. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872051 No abstract available.
Molecular diagnosis of inherited diseases.
Murgia A, Polli R, Martella M, Vinanzi C, Opocher G. Murgia A, et al. Among authors: polli r. Clin Chim Acta. 1999 Feb;280(1-2):73-80. doi: 10.1016/s0009-8981(98)00199-5. Clin Chim Acta. 1999. PMID: 10090525 Review.
Cx26 deafness: mutation analysis and clinical variability.
Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F. Murgia A, et al. Among authors: polli r. J Med Genet. 1999 Nov;36(11):829-32. J Med Genet. 1999. PMID: 10544226 Free PMC article.
Somatic mosaicism in von Hippel-Lindau Disease.
Murgia A, Martella M, Vinanzi C, Polli R, Perilongo G, Opocher G. Murgia A, et al. Among authors: polli r. Hum Mutat. 2000 Jan;15(1):114. doi: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7. Hum Mutat. 2000. PMID: 10612832
Molecular diagnosis of von Hippel-Lindau disease.
Murgia A, Martella M, Polli R, Piermarocchi S, Lo Giudice G, Opocher G. Murgia A, et al. Among authors: polli r. Contrib Nephrol. 2001;(136):263-70. doi: 10.1159/000060193. Contrib Nephrol. 2001. PMID: 11688392 No abstract available.
45 results