Works matching IS 17501172 AND DT 2014 AND VI 9
Results: 435
Molecular characterization of subcutaneous panniculitis-like T-cell lymphoma reveals upregulation of immunosuppression- and autoimmunity-associated genes.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 160, doi. 10.1186/s13023-014-0160-2
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- Article
Reviewer acknowledgement 2014.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 10, doi. 10.1186/1750-1172-9-10
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- Article
A methodological framework for drug development in rare diseases.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 164, doi. 10.1186/s13023-014-0164-y
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- Article
Consensus clinical management guidelines for Friedreich ataxia.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 184, doi. 10.1186/s13023-014-0184-7
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- Article
Sneddon's syndrome: a comprehensive review of the literature.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0215-4
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- Article
Severity score for hereditary hemorrhagic telangiectasia.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0188-3
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- Article
Use of animal models for exome prioritization of rare disease genes
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O19
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- Article
Social profiles project - only the strong survive.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O32, doi. 10.1186/1750-1172-9-S1-O32
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- Article
OSSE – open source registry software solution
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O9, doi. 10.1186/1750-1172-9-S1-O9
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- Article
Patient innovation under rare diseases and chronic needs.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O33, doi. 10.1186/1750-1172-9-S1-O33
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- Article
Perspective having a Centre of Expertise that covers more than one rare disease.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O2, doi. 10.1186/1750-1172-9-S1-O2
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- Article
Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P10, doi. 10.1186/1750-1172-9-S1-P10
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- Article
Preserving the owner’s autonomy in networks of patient registries and biobanks
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-P3
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- Article
Quality monitoring in the English National Health Service.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O3, doi. 10.1186/1750-1172-9-S1-O3
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- Article
Rare diseases and disabilities: improving the information available with three Orphanet projects
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O31
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- Article
RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O14, doi. 10.1186/1750-1172-9-S1-O14
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- Article
Reimbursement of orphan drugs: the Pompe and Fabry case in the Netherlands.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O17, doi. 10.1186/1750-1172-9-S1-O17
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- Article
Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P7, doi. 10.1186/1750-1172-9-S1-P7
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- Article
New e-health services for the European Network for Rare and Congenital Anaemias (e-ENERCA)
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P9, doi. 10.1186/1750-1172-9-S1-P9
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Setting up strategies: patient inclusion in biobank and genomics research in Europe
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-P2
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- Article
National rare diseases registry in Spain: pilot study of the Spanish Rare Diseases Registries Research Network (SpainRDR)
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-P5
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- Article
Specific social challenges for rare diseases: the French experience, 2005-2014.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O30, doi. 10.1186/1750-1172-9-S1-O30
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- Article
The Biopontis Alliance Rare Disease Foundation (BARDF) – an innovative model for early stage rare disease therapy financing and development
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O18, doi. 10.1186/1750-1172-9-S1-O18
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The Epidermolysis bullosa Center Freiburg – patient care, diagnostics and research.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O1
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- Article
The experience of a charity in translating the results of basic research to therapies for patients.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O20
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The French national registry for rare diseases: an integrated model from care to epidemiology and research.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O7
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- Article
The importance of helplines in National Plans
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O12, doi. 10.1186/1750-1172-9-S1-O12
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The RE(ACT) Initiative and the use of an online community to enhance research on rare diseases.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P8, doi. 10.1186/1750-1172-9-S1-P8
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Towards a European platform for Rare Diseases Registries.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O6, doi. 10.1186/1750-1172-9-S1-O6
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- Article
UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P6, doi. 10.1186/1750-1172-9-S1-P6
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Understanding off-label use and the new challenges.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O22, doi. 10.1186/1750-1172-9-S1-O22
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Se-atlas-cartographic representation of experts for rare diseases.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P1, doi. 10.1186/1750-1172-9-S1-P1
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- Article
Evolution of national and European policies in the field of rare diseases and their impact over the past five years.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-P13
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A company experience of the first MoCA pilot project
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O26
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Are we ready? What is missing and what is needed? A regulator’s perspective.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O25, doi. 10.1186/1750-1172-9-S1-O25
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Can people living with a rare disease be independent? Inspiring personal stories.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O34, doi. 10.1186/1750-1172-9-S1-O34
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- Article
Characterization and classification of Rare Disease Registries by using exploratory data analyses.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-P4
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- Article
Differential pricing: solidarity at times of financial crisis.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O28, doi. 10.1186/1750-1172-9-S1-O28
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- Article
Early access to medicinal products: potential and limits.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O24, doi. 10.1186/1750-1172-9-S1-O24
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- Article
E-learning course for Norwegian caregivers.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P12, doi. 10.1186/1750-1172-9-S1-P12
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- Article
Emergency guidelines and emergency cards.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O15, doi. 10.1186/1750-1172-9-S1-O15
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- Article
Empowerment Weekends for young adults.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O35, doi. 10.1186/1750-1172-9-S1-O35
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OrphanAnesthesia – anesthesia recommendations for patients suffering from rare diseases
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O16, doi. 10.1186/1750-1172-9-S1-O16
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Evaluation of Centres: the French experience since 2009.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O4, doi. 10.1186/1750-1172-9-S1-O4
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- Article
Findacure – the Fundamental Diseases Partnership
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O23, doi. 10.1186/1750-1172-9-S1-O23
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FindZebra - the search engine for difficult medical cases
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O5, doi. 10.1186/1750-1172-9-S1-O5
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German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O10, doi. 10.1186/1750-1172-9-S1-O10
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Health care cost-containment measures in the context of the economic crisis: impact analysis.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O21
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How to code rare diseases with international terminologies?
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O11, doi. 10.1186/1750-1172-9-S1-O11
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Identifying specific social challenges of rare diseases: current challenges and issues.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-S1-O29
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- Article