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

181 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Correction: Dispelling myths about rare disease registry system development.
Bellgard M, Beroud C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A. Bellgard M, et al. Among authors: ayme s. Source Code Biol Med. 2014 Jan 31;9(1):4. doi: 10.1186/1751-0473-9-4. Source Code Biol Med. 2014. PMID: 24484969 Free PMC article. No abstract available.
Dispelling myths about rare disease registry system development.
Bellgard M, Beroud C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A. Bellgard M, et al. Among authors: ayme s. Source Code Biol Med. 2013 Oct 16;8(1):21. doi: 10.1186/1751-0473-8-21. Source Code Biol Med. 2013. PMID: 24131574 Free PMC article.
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: ayme s. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
Rare diseases and now rare data?
Mascalzoni D, Knoppers BM, Aymé S, Macilotti M, Dawkins H, Woods S, Hansson MG. Mascalzoni D, et al. Among authors: ayme s. Nat Rev Genet. 2013 Jun;14(6):372. doi: 10.1038/nrg3494. Nat Rev Genet. 2013. PMID: 23821785 No abstract available.
CEMARA an information system for rare diseases.
Landais P, Messiaen C, Rath A, Le Mignot L, Dufour E, Ben Said M, Jais JP, Toubiana L, Baujat G, Bourdon-Lanoy E, Gérard-Blanluet M, Bodemer C, Salomon R, Aymé S, Le Merrer M, Verloes A; CEMARA task force. Landais P, et al. Among authors: ayme s. Stud Health Technol Inform. 2010;160(Pt 1):481-5. Stud Health Technol Inform. 2010. PMID: 20841733
Ontological phenotype standards for neurogenetics.
Köhler S, Doelken SC, Rath A, Aymé S, Robinson PN. Köhler S, et al. Among authors: ayme s. Hum Mutat. 2012 Sep;33(9):1333-9. doi: 10.1002/humu.22112. Epub 2012 Jul 2. Hum Mutat. 2012. PMID: 22573485
181 results