Expert reviewers for Orphanet in 2015
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Expert reviewers for Orphanet in 2015
Expert reviewers for Orphanet in 2015 www orpha net METHODOLOGY This document provides the list of Orphanet Expert reviewers having contributed updating the scientific information contained in the Orphanet database of rare diseases in 2015 |
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Expert reviewers for Orphanet in 2019
List of expert reviewers for Orphanet in 2019 Expert\'s name Disease name ORPHA code Dr ABRUZZO Michael Abruzzo-Erickson syndrome 921 Pr AHMED Faisal 46XX testicular disorder of sex development 393 46XX ovotesticular disorder of sex development 2138 Dr ANGLES-CANO Eduardo Congenital plasminogen activator inhibitor type 1 deficiency 465 Dr |
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Expert reviewers for Orphanet in 2020
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www orpha net/orphacom/cahiers/docs/GB/Expert_reviewers_2020 pdf 5 Expert ERN Affiliation Disease name ORPHAcode Usher syndrome type 2 ORPHA:231178 Usher syndrome type 1 ORPHA:231169 Usher syndrome ORPHA:886 Pr BLAU Nenad Maternal phenylketonuria ORPHA:2209 |
What are Orphanet reports?
Orphanet reports are a serie of texts covering topics relevant to all rare diseases. New reports are regularly put online and some of these texts are periodically updated. This document has been translated into Czech (January 2021) This document has been translated into Russian January 2022 - n°1
Are Orphan Medicinal Products a viable option for patients with rare diseases?
The number of market approvals of orphan medicinal products (OMPs) has been increasing steadily in the last 3 decades. While OMPs can offer a unique chance for patients suffering from rare diseases, they are usually very expensive.
Is the Orphanet website user friendly?
The Orphanet website was reworked in March 2017 to improve its user friendliness. Despite this total make over, around 15% of the collected responses showed that the website in not user friendly enough.
Will orphan win any awards?
Orphan won't win any awards (despite Fuhrman's impressive performance) and might well get passed over by many based on the trailer, all of which is too bad because this is one stray that movie audiences would do well to adopt. 201 out of 256 found this helpful. Was this review helpful? Sign in to vote. It's a Hard Knock Life...
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Expert reviewers for Orphanet in 2015
Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf. |
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2015 Activity Report
Figure 13 The disease database content as of 31 December 2015 . produced in-house is expert-validated (list of expert reviewers having contributed to ... |
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2015 Activity Report
Figure 13 The disease database content as of 31 December 2015 . produced in-house is expert-validated (list of expert reviewers having contributed to ... |
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Expert reviewers for Orphanet in 2020
Experts were identified through their publications and their activity related to the given disease/group of diseases (research projects |
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Expert reviewers for Orphanet in 2019
Experts were identified through their publications and their activity related to the given disease/group of diseases (research projects |
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2019 Activity Report
previous Joint Action on Rare Diseases RD-ACTION (2015-2018) are being updated according A list of expert reviewers having contributed to the scientific. |
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Untitled
Texto y figuras: Todos los autores 2015. © Diseño portada e ilustración: David Ulibarri |
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Untitled
Diseño portada e ilustración: David Ulibarri 2015 Silver-Russell syndrome: review on the basis of. 386 patients. ... Expert Rev Mol. |
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Orphanet
18 ene 2017 The Orphanet Activity report 2015 was translated into French Italian |
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Evaluation Report on the European Joint Action Project RD-ACTION
7 sept 2018 1 EUCERD: European Union Committee of Experts on Rare Diseases the official follow-up committee ... Expert reviewers for Orphanet in 2015:. |
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Expert reviewers for Orphanet in 2015
Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www orpha net/orphacom/cahiers/docs/GB/Expert_reviewers_2015 pdf 2 |
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2015 Activity Report - Orphanet
Figure 13 The disease database content as of 31 December 2015 produced in-house is expert-validated (list of expert reviewers having contributed to the |
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Orphanet - FILFOIE
Orphanet est reconnu comme le leader mondial dans la collecte, l'intégration, la Experts Associations Professionnels Complétude Cohérence Conformité Exploitation Figures: February 2015 593 Clinical genetics reviews 297 Best |
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Orphanet Standard Operating Procedures
d) The General assembly of the RD-ACTION Joint action 2015-2018 Production of expert-authored peer-reviewed review articles in the local language |
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RAPPORT DACTIVITE ORPHANET BELGIUM 2017-2019 - Sciensano
d'Orphanet sont traitées manuellement et validées par des experts, conformément à Assurance Review (QAR)» diffusés par l'équipe coordinatrice d'Orphanet /files/rare_diseases/docs/ 2015_recommendation_crossbordergenetictesting_e |
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The recognition of rare diseases - Seltene Krankheiten
13 fév 2020 · The added-value comes from the data being expert-reviewed, manually curated From 2015 Orphanet disorders are annotated with the Human Phenotype Ontology, a standard and Based on review of biomedical literature |
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Rare Disease European Reference Networks - European Commission
10 jui 2015 · The decision of the Commission expert group on rare diseases Recommendations for review and discussion at the November 2012 and in view of the first calls for ERNs that will be launched in December 2015 Principles of Internal Medicine; the Orphanet classification (http://www orphadata org/cgi- |
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SNOMED CT and Orphanet – working together - SNOMED Confluence
Orphanet nomenclature is produced by the INSERM in France • The European Commission expert Group for rare Diseases adopted a recommendation for EU |
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A systematic review - Orphanet Journal of Rare Diseases
The importance of biobank and nationwide registry for lymphangioleiomyomatosis in a small sized country Expert Opin Orphan Drugs 2015;3(4):393–401 49 |
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