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

Text availability

Article attribute

Article type

Publication date

Search Results

3,524 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
Mansour S, Josephs KS, Ostergaard P, Gordon K, Van Zanten M, Pearce J, Jeffery S, Keeley V, Riches K, Kreuter A, Wieland U, Hägerling R, Ratnam L, Sackey E, Grigoriadis D, Ho B, Smith F, Rauter E, Mortimer P, Macallan D. Mansour S, et al. Among authors: smith f. J Med Genet. 2023 Jan;60(1):84-90. doi: 10.1136/jmedgenet-2021-107820. Epub 2021 Dec 16. J Med Genet. 2023. PMID: 34916230 Free PMC article.
Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation.
King-Robson J, Marshall J, Smith F, Willoughby L, Mansour S, Sztriha L. King-Robson J, et al. Among authors: smith f. Neurol Genet. 2021 Mar 24;7(3):e580. doi: 10.1212/NXG.0000000000000580. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 33884299 Free PMC article. No abstract available.
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Cullup T, et al. Among authors: smith f. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222957 Free PMC article.
3,524 results