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

354 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Smith M, Alexander E, Marcinkute R, Dan D, Rawson M, Banka S, Gavin J, Mina H, Hennessy C, Riccardi F, Radio FC, Havlovicova M, Cassina M, Emandi AC, Fradin M, Gompertz L, Nordgren A, Traberg R, Rossi M, Trimouille A, Sowmyalakshmi R, Dallapiccola B, Renieri A, Faivre L, Kerr B, Verloes A, Clayton-Smith J, Douzgou S; ERN ITHACA. Smith M, et al. Orphanet J Rare Dis. 2020 Apr 25;15(1):103. doi: 10.1186/s13023-020-1349-1. Orphanet J Rare Dis. 2020. PMID: 32334637 Free PMC article.
Trisomy 18 mosaicism: report of two cases.
Banka S, Metcalfe K, Clayton-Smith J. Banka S, et al. World J Pediatr. 2013 May;9(2):179-81. doi: 10.1007/s12519-011-0280-x. Epub 2011 Nov 21. World J Pediatr. 2013. PMID: 22105572
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC. Burkitt Wright EM, et al. Orphanet J Rare Dis. 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. Orphanet J Rare Dis. 2013. PMID: 23642083 Free PMC article. Review.
Dysmorphology at a distance: results of a web-based diagnostic service.
Douzgou S, Clayton-Smith J, Gardner S, Day R, Griffiths P, Strong K; DYSCERNE expert panel. Douzgou S, et al. Eur J Hum Genet. 2014 Mar;22(3):327-32. doi: 10.1038/ejhg.2013.137. Epub 2013 Jul 10. Eur J Hum Genet. 2014. PMID: 23838594 Free PMC article.
354 results