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Domenica Taruscio

20172019

Research output per year

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Research Output

Registro italiano Fibrosi Cistica (RIFC). Rapporto 2015-2016

Translated title of the contribution: Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016Gruppo di lavoro RIFC, Aug 3 2019, In : Epidemiologia e prevenzione. 43, 4S1, p. 1-36 36 p.

Research output: Contribution to journal › Article

    • The current landscape of European registries for rare endocrine conditions

    Ali, S. R., Bryce, J., Cools, M., Korbonits, M., Beun, J. G., Taruscio, D., Danne, T., Dattani, M., Dekkers, O. M., Linglart, A., Netchine, I., Nordenstrom, A., Patocs, A., Persani, L., Reisch, N., Smyth, A., Sumnik, Z., Visser, W. E., Hiort, O., Pereira, A. M. & 1 others, Ahmed, S. F., Jan 1 2019, In : European Journal of Endocrinology. 180, 1, p. 89-98 10 p.

    Research output: Contribution to journal › Article

    • Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

    Undiagnosed Disease Network Italy, Sep 1 2018, In : European Journal of Human Genetics. 26, 9, p. 1266-1271 6 p.

    Research output: Contribution to journal › Article

    • Competing to raise awareness of rare diseases

    Polizzi, A., Gentile, A. E. & Taruscio, D., Nov 14 2018, In : The Lancet Neurology.

    Research output: Contribution to journal › Article

    Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

    on behalf of the International Rare Diseases Research Consortium (IRDiRC), Jan 1 2018, In : Clinical and Translational Science. 11, 1, p. 21-27 7 p.

    Research output: Contribution to journal › Review article

    Open Access