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
2000 2
2002 1
2003 1
2005 3
2006 3
2007 1
2008 1
2010 2
2011 1
2012 3
2013 2
2014 1
2015 1
2016 2
2017 1
2018 3
2019 2
2020 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

28 results

Results by year

Filters applied: . Clear all
Page 1
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A, D'Avanzo F, Rigon L, Rampazzo A, Concolino D, Barone R, Volpi N, Santoro L, Lualdi S, Bertola F, Scarpa M, Tomanin R. Zanetti A, et al. Among authors: lualdi s. Eur J Pediatr. 2019 May;178(5):739-753. doi: 10.1007/s00431-019-03341-8. Epub 2019 Feb 26. Eur J Pediatr. 2019. PMID: 30809705 Free PMC article. Clinical Trial.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Bedoni N, Quinodoz M, Pinelli M, Cappuccio G, Torella A, Nigro V, Testa F, Simonelli F; TUDP (Telethon Undiagnosed Disease Program); Corton M, Lualdi S, Lanza F, Morana G, Ayuso C, Di Rocco M, Filocamo M, Banfi S, Brunetti-Pierri N, Superti-Furga A, Rivolta C. Bedoni N, et al. Among authors: lualdi s. Hum Mol Genet. 2020 Aug 3;29(13):2250-2260. doi: 10.1093/hmg/ddaa112. Hum Mol Genet. 2020. PMID: 32533184
28 results