-
3
-
-
85061875039
-
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
-
Nov 26. [Epub ahead of print]
-
Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res. 2014 Nov 26. [Epub ahead of print].
-
(2014)
Nucleic Acids Res
-
-
Amberger, J.S.1
Bocchini, C.A.2
Schiettecatte, F.3
Scott, A.F.4
Hamosh, A.5
-
4
-
-
84864358886
-
Representation of rare diseases in health information systems: The Orphanet approach to serve a wide range of end users
-
22422702
-
Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Aymé S. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum Mutat. 2012;33(5):803-8.
-
(2012)
Hum Mutat
, vol.33
, Issue.5
, pp. 803-808
-
-
Rath, A.1
Olry, A.2
Dhombres, F.3
Brandt, M.M.4
Urbero, B.5
Aymé, S.6
-
5
-
-
84926464519
-
-
Accessed 19 January 2015
-
Orphanet: Orphanet 2013 Activity Report. [ http://www.orpha.net/orphacom/cahiers/docs/GB/ActivityReport2013.pdf ] Accessed 19 January 2015.
-
Orphanet: Orphanet 2013 Activity Report
-
-
-
6
-
-
80053025550
-
Mapping Orphanet terminology to UMLS
-
Miličić Brandt M, Rath A, Devereau A, Aymé S. Mapping Orphanet terminology to UMLS. In "Artificial Intelligence in Medicine: proceedings of the 13th conference on artificial intelligence in Medicine", AIME 2011, ISBN 978-3-642-22217-7, pp. 194-203, 2011.
-
(2011)
"artificial Intelligence in Medicine: Proceedings of the 13th Conference on Artificial Intelligence in Medicine", AIME 2011
, pp. 194-203
-
-
Miličić Brandt, M.1
Rath, A.2
Devereau, A.3
Aymé, S.4
-
7
-
-
84926464518
-
-
Accessed 19 January 2015
-
World Health Organization. Terms of reference of the Topic Advisory Groups. [ http://www.who.int/classifications/TOR-TAGs-WGs.pdf?ua=1 ] Accessed 19 January 2015.
-
Terms of Reference of the Topic Advisory Groups
-
-
-
8
-
-
84926464517
-
-
Accessed 19 January 2015
-
World Health Organization. Revision Steering Group webpage. [ http://www.who.int/classifications/icd/RSG/en/ ] Accessed 19 January 2015.
-
Revision Steering Group Webpage
-
-
-
9
-
-
79952769046
-
-
Accessed 19 January 2015
-
Tu SW, Bodenreider O, Çelik C, Chute CG, Heard S, Jakob R, et al. A Content Model for the ICD-11 Revision. [ https://wiki.nci.nih.gov/download/attachments/25136344/BMIR-2010-1405.pdf ] Accessed 19 January 2015.
-
A Content Model for the ICD-11 Revision
-
-
Tu, S.W.1
Bodenreider, O.2
Çelik, C.3
Chute, C.G.4
Heard, S.5
Jakob, R.6
-
10
-
-
84983070563
-
Supporting the collaborative authoring of ICD-11 with WebProtégé
-
3041458 21347089
-
Tudorache T, Falconer S, Nyulas C, Storey MA, Ustün TB, Musen MA. Supporting the collaborative authoring of ICD-11 with WebProtégé. AMIA Annu Symp Proc. 2010;2010:802-6.
-
(2010)
AMIA Annu Symp Proc
, vol.2010
, pp. 802-806
-
-
Tudorache, T.1
Falconer, S.2
Nyulas, C.3
Storey, M.A.4
Ustün, T.B.5
Musen, M.A.6
-
11
-
-
84898403520
-
Global classification and coding of hypersensitivity diseases - An EAACI - WAO survey, strategic paper and review
-
1:STN:280:DC%2BC2crls1OgsQ%3D%3D 24650345 PMID 24650345
-
Demoly P, Tanno LK, Akdis CA, Lau S, Calderon MA, Santos AF, et al. Global classification and coding of hypersensitivity diseases - An EAACI - WAO survey, strategic paper and review. Allergy. 2014;69(5):559-70. PMID 24650345.
-
(2014)
Allergy
, vol.69
, Issue.5
, pp. 559-570
-
-
Demoly, P.1
Tanno, L.K.2
Akdis, C.A.3
Lau, S.4
Calderon, M.A.5
Santos, A.F.6
-
12
-
-
84859882551
-
Distributed biomedical terminology development: From experiments to open process
-
Review. PubMed PMID: 20938572
-
Chute CG. Distributed biomedical terminology development: from experiments to open process. Yearb Med Inform. 2010:58-63. Review. PubMed PMID: 20938572.
-
(2010)
Yearb Med Inform
, pp. 58-63
-
-
Chute, C.G.1
-
14
-
-
84926464516
-
-
Poster presented at the WHO - family of international classification network annual meeting 2014, 11-17 October 2014, Barcelona, Spain. Online presentation: Accessed 19 January 2015
-
Huang J, Manos A, Shah A, Wu JP, Robinson Nicol MM. Standardizing short definitions for the new ICD. Poster presented at the WHO - family of international classification network annual meeting 2014, 11-17 October 2014, Barcelona, Spain. Online presentation: [ http://prezi.com/9cnw6b628vln/standardizing-short-definitions-for-the-new-icd/ ] Accessed 19 January 2015
-
Standardizing Short Definitions for the New ICD
-
-
Huang, J.1
Manos, A.2
Shah, A.3
Wu, J.P.4
Robinson Nicol, M.M.5
-
15
-
-
84905561716
-
The classification of neurological disorders in the 11th revision of the international classification of diseases (ICD-11)
-
24249782
-
Rajakulendran S, Dua T, Harper M, Shakir R. The classification of neurological disorders in the 11th revision of the international classification of diseases (ICD-11). J Neurol Neurosurg Psychiatry. 2014;85(9):952-3.
-
(2014)
J Neurol Neurosurg Psychiatry
, vol.85
, Issue.9
, pp. 952-953
-
-
Rajakulendran, S.1
Dua, T.2
Harper, M.3
Shakir, R.4
-
16
-
-
84864360759
-
Next-generation sequencing demands next-generation phenotyping
-
3327792 1:CAS:528:DC%2BC38XlsFyisb0%3D 22457028
-
Hennekam RC, Biesecker LG. Next-generation sequencing demands next-generation phenotyping. Hum Mutat. 2012;33(5):884-6.
-
(2012)
Hum Mutat
, vol.33
, Issue.5
, pp. 884-886
-
-
Hennekam, R.C.1
Biesecker, L.G.2
-
18
-
-
84896323670
-
-
Accessed 19 January 2015
-
National plans or strategies for rare diseases. [ http://ec.europa.eu/health/rare-diseases/national-plans/detailed/index-en.htm ] Accessed 19 January 2015.
-
National Plans or Strategies for Rare Diseases
-
-
-
19
-
-
84899445465
-
A population-based registry as a source of health indicators for rare diseases: The ten-year experience of the Veneto region's rare diseases registry
-
4000007 24646171
-
Mazzucato M, Visonà Dalla Pozza L, Manea S, Minichiello C, Facchin P. A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto region's rare diseases registry. Orphanet J Rare Dis. 2014;9:37.
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 37
-
-
Mazzucato, M.1
Visonà Dalla Pozza, L.2
Manea, S.3
Minichiello, C.4
Facchin, P.5
|