20172019

Research output per year

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Research Output

The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data

National Rare Diseases Registry Collaborating Group, Mar 1 2019, In : Journal of Public Health.

Research output: Contribution to journalArticle

  • Recommendations for improving the quality of rare disease registries

    Kodra, Y., Weinbach, J., Posada-De-La-Paz, M., Coi, A., Lemonnier, S. L., van Enckevort, D., Roos, M., Jacobsen, A., Cornet, R., Ahmed, S. F., Bros-Facer, V., Popa, V., van Meel, M., Renault, D., von Gizycki, R., Santoro, M., Landais, P., Torreri, P., Carta, C., Mascalzoni, D. & 9 others, Gainotti, S., Lopez, E., Ambrosini, A., Müller, H., Reis, R., Bianchi, F., Rubinstein, Y. R., Lochmüller, H. & Taruscio, D., Aug 3 2018, In : International Journal of Environmental Research and Public Health. 15, 8, 1644.

    Research output: Contribution to journalReview article

    Open Access
  • The RD-Connect Registry & Biobank Finder: A tool for sharing aggregated data and metadata among rare disease researchers

    Gainotti, S., Torreri, P., Wang, C. M., Reihs, R., Mueller, H., Heslop, E., Roos, M., Badowska, D. M., De Paulis, F., Kodra, Y., Carta, C., Martìn, E. L., Miller, V. R., Filocamo, M., Mora, M., Thompson, M., Rubinstein, Y., Posada De La Paz, M., Monaco, L., Lochmüller, H. & 1 others, Taruscio, D., May 1 2018, In : European Journal of Human Genetics. 26, 5, p. 631-643 13 p.

    Research output: Contribution to journalArticle

  • Data quality in rare diseases registries

    Kodra, Y., Posada De La Paz, M., Coi, A., Santoro, M., Bianchi, F., Ahmed, F., Rubinstein, Y. R., Weinbach, J. & Taruscio, D., Jan 1 2017, Advances in Experimental Medicine and Biology. Springer New York LLC, p. 149-164 16 p. (Advances in Experimental Medicine and Biology; vol. 1031).

    Research output: Chapter in Book/Report/Conference proceedingChapter