20112019

Research output per year

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Fingerprint Dive into the research topics where Sabina Barresi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

  • Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

    Barresi, S., Dentici, M. L., Manzoni, F., Bellacchio, E., Agolini, E., Pizzi, S., Ciolfi, A., Tarnopolsky, M., Brady, L., Garone, G., Novelli, A., Mei, D., Guerrini, R., Capuano, A., Pantaleoni, C. & Tartaglia, M., 2019, In : Pediatric Neurology. 104, p. 40-45 6 p.

    Research output: Contribution to journalArticle

  • NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations

    Carli, D., Giorgio, E., Pantaleoni, F., Bruselles, A., Barresi, S., Riberi, E., Licciardi, F., Gazzin, A., Baldassarre, G., Pizzi, S., Niceta, M., Radio, F. C., Molinatto, C., Montin, D., Calvo, P. L., Ciolfi, A., Fleischer, N., Ferrero, G. B., Brusco, A. & Tartaglia, M., Mar 2 2019, In : Human Mutation.

    Research output: Contribution to journalArticle

  • Skeletal abnormalities are common features in Aymé-Gripp syndrome

    Niceta, M., Barbuti, D., Gupta, N., Ruggiero, C., Tizzano, E. F., Graul-Neumann, L., Barresi, S., Nishimura, G., Valenzuela, I., López-Grondona, F., Fernandez-Alvarez, P., Leoni, C., Zweier, C., Tzschach, A., Stellacci, E., Del Fattore, A., Dallapiccola, B., Zampino, G. & Tartaglia, M., 2019, In : Clinical Genetics. 97, 2, p. 362-369 8 p.

    Research output: Contribution to journalArticle