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Items: 1 to 20 of 169

1.

Reaching multidisciplinary consensus on classification of anaphylaxis for the eleventh revision of the World Health Organization's (WHO) International Classification of Diseases (ICD-11).

Tanno LK, Chalmers RJ, Calderon MA, Aymé S, Demoly P; on behalf the Joint Allergy Academies.

Orphanet J Rare Dis. 2017 Mar 16;12(1):53. doi: 10.1186/s13023-017-0607-3.

2.

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL).

Annemans L, Aymé S, Le Cam Y, Facey K, Gunther P, Nicod E, Reni M, Roux JL, Schlander M, Taylor D, Tomino C, Torrent-Farnell J, Upadhyaya S, Hutchings A, Le Dez L.

Orphanet J Rare Dis. 2017 Mar 10;12(1):50. doi: 10.1186/s13023-017-0601-9.

3.

Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules.

Tanno LK, Simons FE, Annesi-Maesano I, Calderon MA, Aymé S, Demoly P; Joint Allergy Academies.

Orphanet J Rare Dis. 2017 Jan 13;12(1):8. doi: 10.1186/s13023-016-0554-4. Review.

4.

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.

Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28.

5.

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.

Walker CE, Mahede T, Davis G, Miller LJ, Girschik J, Brameld K, Sun W, Rath A, Aymé S, Zubrick SR, Baynam GS, Molster C, Dawkins HJS, Weeramanthri TS.

Genet Med. 2017 May;19(5):546-552. doi: 10.1038/gim.2016.143. Epub 2016 Sep 22.

6.

IRDiRC-recommended.

Aymé S.

Eur J Hum Genet. 2016 Jul;24(7):955. doi: 10.1038/ejhg.2015.236. No abstract available.

7.

The importance of review articles in making the voice of rare diseases heard: OJRD's 10th anniversary.

Aymé S.

Orphanet J Rare Dis. 2016 May 28;11(1):71. doi: 10.1186/s13023-016-0456-5. No abstract available.

8.

Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers.

Morel T, Aymé S, Cassiman D, Simoens S, Morgan M, Vandebroek M.

Orphanet J Rare Dis. 2016 May 26;11(1):70. doi: 10.1186/s13023-016-0444-9.

9.

Conférence 1 - La France a eu un rôle moteur dans les maladies rares, peut-elle faire mieux ?

Aymé S.

Med Sci (Paris). 2016 Apr;32 Spec No 1:12-3. doi: 10.1051/medsci/201632s104. Epub 2016 May 2. French. No abstract available.

10.

Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding.

Aymé S, Bellet B, Rath A.

Orphanet J Rare Dis. 2015 Mar 26;10:35. doi: 10.1186/s13023-015-0251-8.

11.

Rare disease policies to improve care for patients in Europe.

Rodwell C, Aymé S.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2329-35. doi: 10.1016/j.bbadis.2015.02.008. Epub 2015 Feb 25.

13.
14.

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.

Source Code Biol Med. 2014 Jan 31;9(1):4. doi: 10.1186/1751-0473-9-4. No abstract available.

15.

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.

Source Code Biol Med. 2013 Oct 16;8(1):21. doi: 10.1186/1751-0473-8-21.

16.

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.

Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, Młynarski W, Nunes V, Parkinson K, Paquis-Flucklinger V, Rohayem J, Sinnott R, Tillmann V, Tranebjaerg L, Barrett TG.

BMC Pediatr. 2013 Aug 27;13:130. doi: 10.1186/1471-2431-13-130.

17.

Rare diseases and now rare data?

Mascalzoni D, Knoppers BM, Aymé S, Macilotti M, Dawkins H, Woods S, Hansson MG.

Nat Rev Genet. 2013 Jun;14(6):372. No abstract available.

PMID:
23821785
18.

Ontological phenotype standards for neurogenetics.

Köhler S, Doelken SC, Rath A, Aymé S, Robinson PN.

Hum Mutat. 2012 Sep;33(9):1333-9. doi: 10.1002/humu.22112. Epub 2012 Jul 2.

PMID:
22573485
19.

[Introduction and welcome message].

Schwebig A, Levy N, Ayme S.

Presse Med. 2012 May;41 Suppl 1:S1-2. doi: 10.1016/j.lpm.2012.02.022. Epub 2012 Apr 6. French. No abstract available.

PMID:
22483772
20.

[Precompetitive tools and resources for leveraging R&D in Europe].

Ayme S.

Presse Med. 2012 May;41 Suppl 1:S9-11. doi: 10.1016/j.lpm.2012.02.027. Epub 2012 Apr 6. French. No abstract available.

PMID:
22483769

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