• 10 Citations
  • 2 h-Index
20172019
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Research Output 2017 2019

  • 10 Citations
  • 2 h-Index
  • 6 Article
  • 2 Review article
  • 1 Chapter
  • 1 Chapter (peer-reviewed)
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Article
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 journalArticle

Cystic Fibrosis
Registries
Italy
Pediatrics
Mutation
2018
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 journalArticle

Hypopituitarism
Retinitis Pigmentosa
Genes
Exome
Liver Cirrhosis

Registro italiano Fibrosi Cistica. Rapporto 2011-2014

Translated title of the contribution: Italian Cystic Fibrosis Registry. Report 2011-2014Gruppo di lavoro RIFC, Mar 7 2018, In : Epidemiologia e prevenzione. 42, 1S1, p. 1-32 32 p.

Research output: Contribution to journalArticle

Cystic Fibrosis
Registries
Pediatrics
Italy
Delivery of Health Care

The Italian National External Quality Assessment Program in Cytogenetics

de Stefano, M. C., Floridia, G., Censi, F., Tosto, F., Salvatore, M., Civolani, A., Crescenzi, B., Giardino, D., Lenzini, E., Lisi, E., Lonardo, F., Mancini, M., Novelli, A., Piombo, G., Stioui, S. & Taruscio, D., Jun 20 2018, In : Annali dell'Istituto Superiore di Sanita. 54, 2, p. 109-116 8 p.

Research output: Contribution to journalArticle

Cytogenetics
Fees and Charges
Karyotype
Terminology
General Hospitals

The Italian National External Quality Assessment Program in Cytogenetics

de Stefano, M. C., Floridia, G., Censi, F., Tosto, F., Salvatore, M., Civolani, A., Crescenzi, B., Giardino, D., Lenzini, E., Lisi, E., Lonardo, F., Mancini, M., Novelli, A., Piombo, G., Stioui, S. & Taruscio, D., Jun 20 2018, In : Annali dell'Istituto Superiore di Sanita. 54, 2, p. 109-116 8 p.

Research output: Contribution to journalArticle

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

de Stefano, M. C., Floridia, G., Censi, F., Tosto, F., Salvatore, M., Civolani, A., Crescenzi, B., Giardino, D., Lenzini, E., Lisi, E., Lonardo, F., Mancini, M., Novelli, A., Piombo, G., Stioui, S. & Taruscio, D., Jun 20 2018, In : Annali dell'Istituto Superiore di Sanita. 54, 2, p. 109-116 8 p.

Research output: Contribution to journalArticle

Cytogenetics
Fees and Charges
Karyotype
Terminology
General Hospitals