• 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)
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

Ethical and legal issues of cord blood stem cell banking

Riva, L., Floridia, G. & Petrini, C., 2018, Stem cell drugs - A new generation of biopharmaceuticals. Pham, P. H. (ed.). Springer International Publishing, p. 143-151 (Stem cells in clinical applications).

Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

3 Citations (Scopus)
Open Access
Patient Rights
Rare Diseases
Ethics
Phenotype
Databases

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
2017
1 Citation (Scopus)

Italian external quality assessment program for cystic fibrosis sweat chloride test: A 2015 and 2016 results comparison

Italian EQA-SCT Working Group, Jan 1 2017, In : Annali dell'Istituto Superiore di Sanita. 53, 4, p. 305-313 9 p.

Research output: Contribution to journalReview article

Sweat
Cystic Fibrosis
Chlorides
Fees and Charges
Quality Improvement
4 Citations (Scopus)

Undiagnosed diseases: Italy-US collaboration and international efforts to tackle rare and common diseases lacking a diagnosis

Taruscio, D., Floridia, G., Salvatore, M., Groft, S. C. & Gahl, W. A., Jan 1 2017, Advances in Experimental Medicine and Biology. Springer New York LLC, p. 25-38 14 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Report/Conference proceedingChapter

Rare Diseases
Italy
Food Safety
Health
European Union