1987 …2020

Research output per year

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Research Output

ALK-negative anaplastic large cell lymphoma with “Hodgkin-like” cytomorphology and nuclear expression of PAX5

Fratoni, S., Niscola, P., Zhao, X. F., Larocca, L. M., Capalbo, A., Fabbretti, M., Bernardini, L. & Abruzzese, E., Feb 2020, In : Pathology Research and Practice. 216, 2, 152724.

Research output: Contribution to journalArticle

  • A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

    Giuffrida, M. G., Mastromoro, G., Guida, V., Truglio, M., Fabbretti, M., Torres, B., Mazza, T., De Luca, A., Roggini, M., Bernardini, L. & Pizzuti, A., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle

  • A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3

    Mastrangelo, M., Mei, D., Cesario, S., Fioriello, F., Bernardini, L., Brinciotti, M., Guerrini, R. & Leuzzi, V., Nov 1 2019, In : Parkinsonism and Related Disorders. 68, p. 1-3 3 p.

    Research output: Contribution to journalLetter

    Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

    Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Lüdecke, H-J., Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A. M., Battaglia, A., Brancati, F. & Bernardini, L., 2019, In : Clinical Genetics.

    Research output: Contribution to journalArticle

    Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes

    Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Hermann-Josef-Lüdecke, Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A., Battaglia, A., Brancati, F. & Bernardini, L., May 15 2019, In : Clinical Genetics.

    Research output: Contribution to journalArticle