19992020

Research output per year

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

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Research Output

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

  • 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