The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

European Journal of Human Genetics

Volumn 25, Issue 12, 2017, Pages 1293-1302

  Lochmüller, Hanns ^a   TorrentFarnell, Josep ^b   Le Cam, Yann ^c   Jonker, Anneliene H ^d   Lau, Lilian Pl ^d   Baynam, Gareth ^e,f   Kaufmann, Petra ^g   Dawkins, Hugh Js ^h   Lasko, Paul ⁱ   Austin, Christopher P ^g   Boycott, Kym M ^j  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c Plateforme Maladies Rares   (France)

^d INSERM   (France)

^e KING EDWARD MEMORIAL HOSPITAL   (Australia)

^f Western Australian Register of Developmental Anomalies   (Australia)

^g NATIONAL INSTITUTES OF HEALTH   (United States)

^h DEPARTMENT OF HEALTH   (Australia)

ⁱ MCGILL UNIVERSITY   (Canada)

^j CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER;

ARTICLE; BIOBANK; DISEASE COURSE; DISEASE REGISTRY; HEALTH CARE POLICY; HUMAN; ONTOLOGY; PATENT; PRACTICE GUIDELINE; PRIORITY JOURNAL; PUBLICATION; RARE DISEASE; GENETICS; HUMAN GENETICS; INTERNATIONAL COOPERATION; ORGANIZATION AND MANAGEMENT; STANDARDS;

GUIDELINES AS TOPIC; HUMAN GENETICS; HUMANS; INTERNATIONAL COOPERATION; RARE DISEASES;

EID: 85034581329     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/s41431-017-0008-z     Document Type: Article

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