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

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Research Output

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

Parma, B., Cianci, P., Mariani, M., Cereda, A., Panceri, R., Fossati, C., Maestri, L., Macchini, F., Onesimo, R., Zampino, G., Betalli, P., Cheli, M. & Selicorni, A., Jan 1 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

  • Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency

    Knerr, I., Colombo, R., Urquhart, J., Morais, A., Merinero, B., Oyarzabal, A., Pérez, B., Jones, S. A., Perveen, R., Preece, M. A., Rogers, Y., Treacy, E. P., Mayne, P., Zampino, G., MacKinnon, S., Wassmer, E., Yue, W. W., Robinson, I., Rodríguez-Pombo, P., Olpin, S. E. & 1 others, Banka, S., Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 809-817 9 p.

    Research output: Contribution to journalArticle

  • First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma

    Leoni, C., Gullo, G., Resta, N., Fagotti, A., Onesimo, R., Schwartz, B., Kazakin, J., Abbadessa, G., Crown, J., Collins, C. D., Ranieri, C., Scambia, G. & Zampino, G., Jul 2019, In : American journal of medical genetics. Part A. 179, 7, p. 1319-1324 6 p.

    Research output: Contribution to journalArticle

  • Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients

    Leoni, C., Triumbari, E. K. A., Vollono, C., Onesimo, R., Podagrosi, M., Giorgio, V., Kuczynska, E., Veltri, S., Tartaglia, M. & Zampino, G., Jun 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 940-947 8 p.

    Research output: Contribution to journalArticle

  • Pathogenic Variants in GPC4 Cause Keipert Syndrome

    Amor, D. J., Stephenson, S. E. M., Mustapha, M., Mensah, M. A., Ockeloen, C. W., Lee, W. S., Tankard, R. M., Phelan, D. G., Shinawi, M., de Brouwer, A. P. M., Pfundt, R., Dowling, C., Toler, T. L., Sutton, V. R., Agolini, E., Rinelli, M., Capolino, R., Martinelli, D., Zampino, G., Dumić, M. & 10 others, Reardon, W., Shaw-Smith, C., Leventer, R. J., Delatycki, M. B., Kleefstra, T., Mundlos, S., Mortier, G., Bahlo, M., Allen, N. J. & Lockhart, P. J., Apr 5 2019, In : American Journal of Human Genetics.

    Research output: Contribution to journalArticle