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Domenica Taruscio

  • 238 Citations
  • 8 h-Index
20172019
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  • 2 Similar Profiles
Rare Diseases Medicine & Life Sciences
Registries Medicine & Life Sciences
Public Health Medicine & Life Sciences
Italy Medicine & Life Sciences
Cystic Fibrosis Medicine & Life Sciences
Research Medicine & Life Sciences
Health Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences

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Research Output 2017 2019

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

Cystic Fibrosis
Registries
Italy
Pediatrics
Mutation
2 Citations (Scopus)

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

Hypopituitarism
Retinitis Pigmentosa
Genes
Exome
Liver Cirrhosis

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

37 Citations (Scopus)

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

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

Bigoni, S., Neri, M., Scotton, C., Farina, R., Sabatelli, P., Jiang, C., Zhang, J., Falzarano, M. S., Rossi, R., Ognibene, D., Selvatici, R., Gualandi, F., Bosshardt, D., Perri, P., Campa, C., Brancati, F., Salvatore, M., De Stefano, M. C., Taruscio, D., Trombelli, L. & 2 others, Fang, M. & Ferlini, A., 2018, In : Frontiers in Genetics. 9, p. 723

Research output: Contribution to journal › Article

Versicans
Tooth Loss
Tooth Abnormalities
Dental Cementum
Mutation