19982019

Research output per year

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

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Research Output

Analysis of the Phenotypes in the Rett Networked Database

Frullanti, E., Papa, F. T., Grillo, E., Clarke, A., Ben-Zeev, B., Pineda, M., Bahi-Buisson, N., Bienvenu, T., Armstrong, J., Roche Martinez, A., Mari, F., Nissenkorn, A., Lo Rizzo, C., Veneselli, E., Russo, S., Vignoli, A., Pini, G., Djuric, M., Bisgaard, A-M., Ravn, K. & 12 others, Bosnjak, V. M., Hayek, J., Khajuria, R., Montomoli, B., Cogliati, F., Pintaudi, M., Hadzsiev, K., Craiu, D., Voinova, V., Djukic, A., Villard, L. & Renieri, A., 2019, In : International Journal of Genomics. 2019, p. 6956934

Research output: Contribution to journalArticle

  • Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes

    Cogliati, F., Giorgini, V., Masciadri, M., Bonati, M. T., Marchi, M., Cracco, I., Gentilini, D., Peron, A., Savini, M. N., Spaccini, L., Scelsa, B., Maitz, S., Veneselli, E., Prato, G., Pintaudi, M., Moroni, I., Vignoli, A., Larizza, L. & Russo, S., Aug 1 2019, In : International Journal of Molecular Sciences. 20, 15, 3621.

    Research output: Contribution to journalArticle

    Open Access
  • Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated with Mild CdLSs

    Masciadri, M., Ficcadenti, A., Milani, D., Cogliati, F., Divizia, M. T., Larizza, L. & Russo, S., Nov 27 2018, In : Frontiers in Neurology. 9, NOV, 967.

    Research output: Contribution to journalArticle

  • The phenotype of SCN8A developmental and epileptic encephalopathy

    Gardella, E., Marini, C., Trivisano, M., Fitzgerald, M. P., Alber, M., Howell, K. B., Darra, F., Siliquini, S., Bölsterli, B. K., Masnada, S., Pichiecchio, A., Johannesen, K. M., Jepsen, B., Fontana, E., Anibaldi, G., Russo, S., Cogliati, F., Montomoli, M., Specchio, N., Rubboli, G. & 8 others, Veggiotti, P., Beniczky, S., Wolff, M., Helbig, I., Vigevano, F., Scheffer, I. E., Guerrini, R. & Møller, R. S., Sep 18 2018, In : Neurology. 91, 12, p. e1112-e1124

    Research output: Contribution to journalArticle