SPECIALTY SCHOOL IN
MEDICAL GENETICS
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Abstract during the specialty course |
Bizzarri Veronica |
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1) R. Tita, L. Dosa, V. Bizzarri, M. Baldassarri, E. Lapi, R. Tenconi, S. Buoni, L. Zelante, M. F.Bedeschi, B. De Vries, S. Lalani, A. Selicorni , F. Brancati, R. Grasso, S. Kuzbari, P. Sarda, P. Blanchet, M. A. Mencarell, I. Longo, M. Bruttini, F. Ariani, F. Mari, A. Renieri. Advances in Cohen syndrome diagnosis using Next Generation Sequencing. (ESHG, Norimberga, 23-26 June 2012)
2) D. Alocci, G. Barlacchi, M. Bianchini, F. Scarselli, F. Ariani, V. Bizzarri, A. Renieri. Clustering of exonic data for the discovery of orrelations between mutational patterns and genetic diseases. (Prima giornata Toscana di Bioinformatica e Systems Biology, Siena, 27 September 2012)
3) E. Grillo, C. Lo Rizzo, L. Bianciardi, V. Bizzarri, M. Baldassarri, O. Spiga, S. Furini, C. De Felice, C. Signorini, S. Leoncini, A. Pecorelli, L. Ciccoli, M. A. Mencarelli, J. Hayek, I. Meloni, F. Ariani, F. Mari, A. Renieri. Revealing the complexity of a monogenic disease: Rett syndrome exome sequencing. (SIGU SORRENTO, 21-24 November 2012)
4) Tita R, Bizzarri V, Dosa L, Baldassarri M, Bordignon M, Salviati L, Ciana G, Mencarelli MA, Bruttini M, Tenconi R, Ariani F, Mari F, Renieri A. Set up of a Next Generation Sequencing protocol for the diagnosis of Cohen syndrome. (SIGU SORRENTO, 21-24 November 2012)
5) Mencarelli MA, Bizzarri V, Amabile S, Amitrano S, Pasquetti E, Alocci D, Barlacchi G, Bruttini M, Lazzeri D, Bianciardi L, Lo Rizzo C, Di Marco C, Giani I, Bianchini M, Scarselli F, Ariani F, Mari F, Renieri A. Investigating the genetic basis of Poland Syndrome by exome sequencing. (SIGU SORRENTO, 21-24 November 2012)
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