20172019

Research output per year

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

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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 journalArticle

  • 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 journalArticle

  • 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 journalArticle

  • 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 journalArticle

    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 journalReview article

    Open Access