-
1
-
-
85032470332
-
-
Regulation (EC) No. 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. (accessed on 15 February
-
Regulation (EC) No. 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. Available at: http://eur-lex.europa. eu/legal-content/EN/TXT/?uri =OJ:L:2000:018:TOC (accessed on 15 February 2017).
-
(2017)
-
-
-
2
-
-
85032481156
-
-
Rare Disease Act 2002. (accessed on 15 February
-
Rare Disease Act 2002. Available at: https://www.gpo.gov/fdsys/pkg/PLAW-107publ280/html/PLAW-107publ280.htm (accessed on 15 February 2017).
-
(2017)
-
-
-
3
-
-
85032481220
-
-
Japan Intractable Disease Information Center. (accessed on 15 February
-
Japan Intractable Disease Information Center. Available at: http://www.nanbyou. or.jp (accessed on 15 February 2017).
-
(2017)
-
-
-
4
-
-
85032483031
-
-
Communication from the European Commission on Rare Diseases: Europe's challenges (accessed on 15 February
-
Communication from the European Commission on Rare Diseases: Europe's challenges. Available at: http://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri = CELEX:52008DC0679&from = EN (accessed on 15 February 2017).
-
(2017)
-
-
-
5
-
-
85032502299
-
-
The European Union Horizon 2020 Health Work Programme (accessed on 15 February
-
The European Union Horizon 2020 Health Work Programme. Available at: https:// ec.europa.eu/research/participants/portal/desktop/en/opportunities/h2020/calls/ h2020-sc1-2016-2017.html#c,topics = callIdentifier/t/H2020-SC1-2016-2017/1/1/1/ default-group&callStatus/t/Forthcoming/1/1/0/default-group&callStatus/t/Open/ 1/1/0/default-group&callStatus/t/Closed/1/1/0/default-group&+identifier/desc (accessed on 15 February 2017).
-
(2017)
-
-
-
6
-
-
85032464776
-
-
Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients' rights in cross-border healthcare (accessed on 15 February
-
Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011 on the application of patients' rights in cross-border healthcare. Available at: http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri = OJ:L:2011:088:0045:0065: en:PDF (accessed on 15 February 2017).
-
(2017)
-
-
-
7
-
-
85032487597
-
-
European Reference Networks. (Press release 28 February
-
European Reference Networks. Available at: https://ec.europa.eu/health/ern/ implementation/call-en [Accessed on 15 February 2017] and http://europa.eu/ rapid/press-release-IP-17-323-en.htm (Press release 28 February 2017).
-
(2017)
-
-
-
8
-
-
85032471357
-
-
E-Rare ERA-Net for Research Programmes on Rare Diseases. (accessed on 15 February
-
E-Rare ERA-Net for Research Programmes on Rare Diseases. Available at: www. erare.eu (accessed on 15 February 2017).
-
(2017)
-
-
-
9
-
-
85032471726
-
-
European Strategy Forum for Research Infrastructures. (accessed on 15 February
-
European Strategy Forum for Research Infrastructures. Available at: http://ec.europa. eu/research/infrastructures/index-en.cfm?pg=esfri (accessed on 15 February 2017).
-
(2017)
-
-
-
10
-
-
85032499652
-
-
ESFRI 2016 Roadmap. (accessed on 15 February
-
ESFRI 2016 Roadmap. Available at: http://www.esfri.eu/roadmap-2016 (accessed on 15 February 2017).
-
(2017)
-
-
-
11
-
-
85032482973
-
-
CORBEL, Coordinated Research Infrastructures Building Enduring Life-science Services. (accessed on 15 February
-
CORBEL, Coordinated Research Infrastructures Building Enduring Life-science Services. Available at: http://www.corbel-project.eu/home.html (accessed on 15 February 2017).
-
(2017)
-
-
-
12
-
-
85032490343
-
-
ADOPT-BBMRI ERIC, implementAtion anD OPeration of the gateway for healTh into BBMRI-ERIC. (accessed on 15 February
-
ADOPT-BBMRI ERIC, implementAtion anD OPeration of the gateway for healTh into BBMRI-ERIC. Available at: http://www.bbmri-eric.eu/scientific-collaboration/ adopt-bbmri-eric/ (accessed on 15 February 2017).
-
(2017)
-
-
-
13
-
-
85032475631
-
-
ELIXIR-EXCELERATE. (accessed on 15 February
-
ELIXIR-EXCELERATE. Available at: https://www.elixir-europe.org/excelerate (accessed on 15 February 2017).
-
(2017)
-
-
-
14
-
-
85032472365
-
-
EURORDIS Survey on 'European Rare Disease Patient Groups in Research: current role and priorities for the future' (accessed on 15 February
-
EURORDIS Survey on 'European Rare Disease Patient Groups in Research: current role and priorities for the future'. Available at: http://www.eurordis.org/content/ survey-patient-groups-research (accessed on 15 February 2017).
-
(2017)
-
-
-
15
-
-
85032467436
-
-
accessed on 15 February
-
Orphanet. Available at: www.orpha.net (accessed on 15 February 2017).
-
(2017)
-
-
-
16
-
-
85032468934
-
-
accessed on 15 February
-
CliniGene project. Available at: http://cordis.europa.eu/projects/result-en? q=contenttype%3D%27project%27%20AND%20/project/acronym%3D%27CliniGene% 27 (accessed on 15 February 2017).
-
(2017)
-
-
-
17
-
-
85032480668
-
-
European Network for the advancement of Clinical Gene Transfer & Therapy
-
European Network for the advancement of Clinical Gene Transfer & Therapy. Available at: clinigene.pelargo.com.
-
-
-
-
18
-
-
85032499756
-
-
Skipping exon 53 of dystrophin gene. (accessed on 15 February
-
Skipping exon 53 of dystrophin gene. Available at: www.skip-nmd.eu (accessed on 15 February 2017).
-
(2017)
-
-
-
19
-
-
85011409933
-
FDA approves eteplirsen for duchenne muscular dystrophy: The next chapter in the eteplirsen saga
-
Aartsma-Rus A, Krieg AM. FDA approves Eteplirsen for Duchenne Muscular Dystrophy: the next chapter in the Eteplirsen saga. Nucleic Acid Ther 2017; 27: 1-3.
-
(2017)
Nucleic Acid Ther
, vol.27
, pp. 1-3
-
-
Aartsma-Rus, A.1
Krieg, A.M.2
-
20
-
-
85032500792
-
-
accessed on 15 February
-
Available at: https://scidnet.eu (accessed on 15 February 2017).
-
(2017)
-
-
-
21
-
-
85032492597
-
-
IRDiRC. Minutes of the 1st IRDiRC Workshop 2010 (accessed on 9 February
-
IRDiRC. Minutes of the 1st IRDiRC Workshop 2010. Available at: http://www.irdirc. org/wp-content/uploads/2013/10/Report-1st-Workshop-Reykjavik-Oct10.pdf (accessed on 9 February 2017).
-
(2017)
-
-
-
22
-
-
85032462570
-
-
IRDiRC. Policies and Guidelines 2013 (accessed on 9 February
-
IRDiRC. Policies and Guidelines 2013. Available from http://www.irdirc.org/wpcontent/ uploads/2013/06/IRDiRC-Policies-Longversion-24May2013.pdf (accessed on 9 February 2017).
-
(2017)
-
-
-
23
-
-
84941873668
-
The Matchmaker Exchange: A platform for rare disease gene discovery
-
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mut 2015; 36: 915-932.
-
(2015)
Hum Mut
, vol.36
, pp. 915-932
-
-
Philippakis, A.A.1
Azzariti, D.R.2
Beltran, S.3
Brookes, A.J.4
Brownstein, C.A.5
Brudno, M.6
-
24
-
-
85032462075
-
-
accessed on 14 February
-
IRDiRC. Patient-Centered Outcomes in the Field of Rare Diseases. Available at: http://www.irdirc.org/wp-content/uploads/2016/03/PCOM-Post-Workshop- Report-Final.pdf (accessed on 14 February 2017).
-
(2017)
Patient-Centered Outcomes in the Field of Rare Diseases
-
-
-
26
-
-
85032493200
-
-
Automatable Discovery and Access Matrix. Guidance Document (accessed on 14 February
-
Automatable Discovery and Access Matrix. Guidance Document. Available at: https://genomicsandhealth.org/files/public/ADAM-GuidanceDocument- 15Dec2016-Final.pdf (accessed on 14 February 2017).
-
(2017)
-
-
-
27
-
-
84992365905
-
IRDiRC recognized resources: A new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
-
Lochmüller H, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P et al. 'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. Eur J Hum Genet 2016; 25: 162-165.
-
(2016)
Eur J Hum Genet
, vol.25
, pp. 162-165
-
-
Lochmüller, H.1
Le Cam, Y.2
Jonker, A.H.3
Lau, L.P.4
Baynam, G.5
Kaufmann, P.6
-
28
-
-
85032495329
-
-
European Union Research and Innovation results for addressing rare disease. Policy feedback report, 2017 (in press)
-
European Union Research and Innovation results for addressing rare disease. Policy feedback report, 2017 (in press).
-
-
-
|