20182020

Research output per year

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Research Output

  • ADA2 deficiency due to a novel structural variation in 22q11.1

    Grossi, A., Cusano, R., Rusmini, M., Penco, F., Schena, F., Podda, R. A., Caorsi, R., Gattorno, M., Uva, P. & Ceccherini, I., Jun 2019, In : Clinical Genetics. 95, 6, p. 732-733 2 p.

    Research output: Contribution to journalArticle

    A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

    Ciammola, A., Sangalli, D., Sassone, J., Poletti, B., Carelli, L., Banfi, P., Pappacoda, G., Ceccherini, I., Grossi, A., Maderna, L., Pingue, M., Girotti, F. & Silani, V., 2019, In : Frontiers in Neurology. 10, p. 1124

    Research output: Contribution to journalArticle

  • A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

    Ciammola, A., Sangalli, D., Sassone, J., Poletti, B., Carelli, L., Banfi, P., Pappacoda, G., Ceccherini, I., Grossi, A., Maderna, L., Pingue, M., Girotti, F. & Silani, V., Nov 6 2019, In : Frontiers in Neurology. 10, 1124.

    Research output: Contribution to journalArticle

    Open Access
  • Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

    Lantieri, F., Gimelli, S., Viaggi, C., Stathaki, E., Malacarne, M., Santamaria, G., Grossi, A., Mosconi, M., Sloan-Béna, F., Prato, A. P., Coviello, D. & Ceccherini, I., Nov 25 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 270

    Research output: Contribution to journalArticle