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 NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2014 1
2015 4
2016 2
2017 2
2018 1
2020 2
2021 3
2022 2
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

17 results

Results by year

Filters applied: . Clear all
Page 1
Did you mean francesca cristofori (1 results)?
Novel CASK mutations in cases with syndromic microcephaly.
Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR. Cristofoli F, et al. Hum Mutat. 2018 Jul;39(7):993-1001. doi: 10.1002/humu.23536. Epub 2018 May 11. Hum Mutat. 2018. PMID: 29691940 Free PMC article.
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.
Precone V, Notarangelo A, Marceddu G, D'Agruma L, Cannarella R, Calogero AE, Cristofoli F, Guerri G, Paolacci S, Castori M, Bertelli M. Precone V, et al. Among authors: cristofoli f. Minerva Endocrinol (Torino). 2022 Mar;47(1):4-10. doi: 10.23736/S2724-6507.21.03477-1. Epub 2021 May 14. Minerva Endocrinol (Torino). 2022. PMID: 33988008
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study; Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Among authors: cristofoli f. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Colombo L, Maltese PE, Romano D, Fogagnolo P, Castori M, Marceddu G, Cristofoli F, Percio M, Piteková B, Modarelli AM, Bertelli M, Rossetti L. Colombo L, et al. Among authors: cristofoli f. Ophthalmic Res. 2022;65(2):180-195. doi: 10.1159/000520329. Epub 2021 Nov 15. Ophthalmic Res. 2022. PMID: 34781295 Free article.
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Bonetti G, Cozza W, Bernini A, Kaftalli J, Mareso C, Cristofoli F, Medori MC, Colombo L, Martella S, Staurenghi G, Salvetti AP, Falsini B, Placidi G, Attanasio M, Pertile G, Bengala M, Bosello F, Petracca A, D'Esposito F, Toschi B, Lanzetta P, Ricci F, Viola F, Marceddu G, Bertelli M. Bonetti G, et al. Among authors: cristofoli f. Int J Mol Sci. 2023 Nov 28;24(23):16881. doi: 10.3390/ijms242316881. Int J Mol Sci. 2023. PMID: 38069202 Free PMC article.
17 results