1988 …2016

Research output per year

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Research Output

A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia

Motta, I., Filocamo, M., Poggiali, E., Stroppiano, M., Dragani, A., Consonni, D., Barcellini, W., Gaidano, G., Facchini, L., Specchia, G. & Cappellini, M. D., Apr 1 2016, In : European Journal of Haematology. 96, 4, p. 352-359 8 p.

Research output: Contribution to journalArticle

  • A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia

    Motta, I., Filocamo, M., Poggiali, E., Stroppiano, M., Dragani, A., Consonni, D., Barcellini, W., Gaidano, G., Facchini, L., Specchia, G. & Cappellini, M. D., Apr 1 2016, In : European Journal of Haematology. 96, 4, p. 352-359 8 p.

    Research output: Contribution to journalArticle

  • Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling

    Zancan, I., Bellesso, S., Costa, R., Salvalaio, M., Stroppiano, M., Hammond, C., Argenton, F., Filocamo, M. & Moro, E., Mar 1 2015, In : Human Molecular Genetics. 24, 5, p. 1280-1294 15 p.

    Research output: Contribution to journalArticle

  • A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers

    Siri, L., Rossi, A., Lanza, F., Mazzotti, R., Costa, A., Stroppiano, M., Gaiero, A., Cohen, A., Biancheri, R. & Filocamo, M., 2014, In : Neurogenetics. 15, 2, p. 101-106 6 p.

    Research output: Contribution to journalArticle