Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

16 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
Salvatore M, Polizzi A, De Stefano MC, Floridia G, Baldovino S, Roccatello D, Sciascia S, Menegatti E, Remuzzi G, Daina E, Iatropoulos P, Bembi B, Da Riol RM, Ferlini A, Neri M, Novelli G, Sangiuolo F, Brancati F, Taruscio D. Salvatore M, et al. Among authors: de stefano mc. Ital J Pediatr. 2020 Sep 14;46(1):130. doi: 10.1186/s13052-020-00883-8. Ital J Pediatr. 2020. PMID: 32928283 Free PMC article.
The Italian pilot external quality assessment program for cystic fibrosis sweat test.
Salvatore M, Floridia G, Amato A, Censi F, Carta C, de Stefano MC, Ferrari G, Tosto F, Capoluongo E, Caruso U, Castaldo G, Cirilli N, Corbetta C, Padoan R, Raia V, Taruscio D. Salvatore M, et al. Among authors: de stefano mc. Clin Biochem. 2016 May;49(7-8):601-5. doi: 10.1016/j.clinbiochem.2015.12.014. Epub 2016 Feb 3. Clin Biochem. 2016. PMID: 26851350
The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria.
de Stefano MC, 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. de Stefano MC, et al. Ann Ist Super Sanita. 2018 Apr-Jun;54(2):109-116. doi: 10.4415/ANN_18_02_06. Ann Ist Super Sanita. 2018. PMID: 29916415 Free article.
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 MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A. Bigoni S, et al. Among authors: de stefano mc. Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018. Front Genet. 2019. PMID: 30740127 Free PMC article.
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature.
Oliva-Teles N, de Stefano MC, Gallagher L, Rakic S, Jorge P, Cuturilo G, Markovska-Simoska S, Borg I, Wolstencroft J, Tümer Z, Harwood AJ, Kodra Y, Skuse D. Oliva-Teles N, et al. Among authors: de stefano mc. Int J Environ Res Public Health. 2020 Dec 10;17(24):9253. doi: 10.3390/ijerph17249253. Int J Environ Res Public Health. 2020. PMID: 33321999 Free PMC article. Review.
Thymosin beta4 targeting impairs tumorigenic activity of colon cancer stem cells.
Ricci-Vitiani L, Mollinari C, di Martino S, Biffoni M, Pilozzi E, Pagliuca A, de Stefano MC, Circo R, Merlo D, De Maria R, Garaci E. Ricci-Vitiani L, et al. Among authors: de stefano mc, de maria r. FASEB J. 2010 Nov;24(11):4291-301. doi: 10.1096/fj.10-159970. Epub 2010 Jun 21. FASEB J. 2010. PMID: 20566622
Glutamatergic neurotransmission in a mouse model of Niemann-Pick type C disease.
D'Arcangelo G, Grossi D, De Chiara G, de Stefano MC, Cortese G, Citro G, Rufini S, Tancredi V, Merlo D, Frank C. D'Arcangelo G, et al. Among authors: de chiara g, de stefano mc. Brain Res. 2011 Jun 17;1396:11-9. doi: 10.1016/j.brainres.2011.04.020. Epub 2011 Apr 19. Brain Res. 2011. PMID: 21575932
16 results