19942019

Research output per year

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Research Output

Assessing drug effect from distributional data: A population approach with application to Duchenne Muscular Dystrophy treatment

Lavezzi, S. M., Rocchetti, M., Bettica, P., Petrini, S. & De Nicolao, G., Sep 2019, In : Computer Methods and Programs in Biomedicine. 178, p. 329-342 14 p.

Research output: Contribution to journalArticle

  • Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

    Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

    Research output: Contribution to journalArticle

  • Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

    Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., 2019, In : Human Mutation. 40, 8, p. 1046-1056 11 p.

    Research output: Contribution to journalArticle

    Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

    Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

    Research output: Contribution to journalArticle

  • Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

    Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

    Research output: Contribution to journalArticle