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Platforms list

33 Result(s)

    • AUSTRALIA
    • Victoria
    • CARLTON
    • HVP - HUMAN VARIOME PROJECT: the global initiative to collect and curate all human genetic variation effecting human disease
    • Genomic Disorders Research Centre
    • More details
    • AUSTRIA
    • STEIERMARK
    • GRAZ
    • BBMRI: biobanking and biomolecular resources research infrastructure
    • Medizinische Universität Graz
    • Institut für Pathologie
    • More details
    • AUSTRIA
    • WIEN
    • WIEN
    • ECRIN: European clinical research infrastructure network
    • Medizinische Universität Wien
    • Koordinierungszentrum für klinische Studien MUW
    • More details
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • EUROGENTEST: Network for test development, harmonization, validation and standardization
    • European Commission
    • DG Research - Directorate General for Research
    • More details
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • LOVD database: to provide a flexible, freely available tool for gene-centered collection and display of DNA variations
    • European Commission
    • DG Research - Directorate General for Research
    • More details
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • EURO-GENE-SCAN: European genetic disease diagnostics
    • European Commission
    • DG Research - Directorate General for Research
    • More details
    • BELGIUM
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • EPIRARE: European platform for rare disease registries (coordination)
    • European Commission
    • DG SANCO - Directorate General for Health and Consumer Affairs
    • More details
    • BELGIUM
    • VLAAMS BRABANT
    • LEUVEN
    • EUROGENTEST: Network for test development, harmonization, validation and standardization
    • University Hospitals Leuven
    • Centre for Forensic medicine
    • More details
    • CANADA
    • Québec
    • CHICOUTIMI
    • BALSAC
    • Université du Québec à Chicoutimi
    • Projet BALSAC
    • More details
    • CANADA
    • Québec
    • MONTREAL
    • BALSAC
    • Centre hospitalier universitaire Sainte-Justine
    • Direction de la recherche
    • More details
    • CANADA
    • Québec
    • QUÉBEC
    • BALSAC
    • Ministère des Finances et de l'Économie (MFE)
    • Ministère du Développement économique, Innovation et exportation
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • CACHAN
    • CLINIGENE: European network for the advancement of clinical gene transfer and therapy
    • ENS - Ecole normale supérieure de Cachan
    • Laboratoire de biotechnologies et pharmacologie génétique appliquée
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • EVRY
    • High-throughput sequencing platform for the identification of human mutations
    • Institut de Génomique - Direction des Sciences du Vivant - CEA
    • Plateforme mutations
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • CRESIM: rare disease: use of clinical trial simulation for the choice and optimization of study design
    • ANR - Agence Nationale de la Recherche
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • RADICO - Rare Diseases Cohort
    • CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
    • U.F. de Génétique clinique et moléculaire
    • More details
    • FRANCE
    • RHONE-ALPES
    • LYON
    • CRESIM: rare disease: use of clinical trial simulation for the choice and optimization of study design
    • CRLCC Léon Bérard
    • Unité de prévention et épidémiologie génétique - UMR 5558
    • More details
    • GERMANY
    • Baden-Württemberg
    • HEIDELBERG
    • TRANSVAC: European network of vaccine development and research
    • Universitätsklinikum Heidelberg
    • TRANSVAC
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • INFRAFRONTIER: infrastructure networks for large-scale and comprehensive phenotyping and archiving of mouse models
    • Technische Universität München
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Bayern
    • NEUHERBERG
    • GGTC: German Gene Trap Consortium
    • GSF-Forschungszentrum für Umwelt und Gesundheit
    • Institut für Entwicklungsgenetik
    • More details
    • GERMANY
    • Bayern
    • NEUHERBERG
    • EUCOMM: European Conditional Mouse Mutagenesis Program
    • GSF-Forschungszentrum für Umwelt und Gesundheit
    • Institut für Entwicklungsgenetik
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • HPO: the Human Phenotype Ontology
    • Charité - Universitätsmedizin Berlin (CVK)
    • Institut für Medizinische Genetik und Humangenetik
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • EU-OPENSCREEN: a European infrastructure of screening platforms
    • Leibniz-Institut für Molekulare Pharmakologie
    • Netzwerkzentrale EU-OPENSCREEN
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • CHEMBIONET: resource network supporting academic chemical biology research
    • Leibniz-Institut für Molekulare Pharmakologie
    • Netzwerkzentrale EU-OPENSCREEN
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • EPIRARE: European platform for rare disease registries (coordination)
    • ISS - Istituto Superiore di Sanità
    • Centro Nazionale Malattie Rare
    • More details
    • LUXEMBOURG
    • LUXEMBOURG
    • LUXEMBOURG
    • EATRIS: European advanced translational research infrastructure in medicine
    • LCSB - Luxembourg Centre for Systems Biomedicine
    • More details
    • NETHERLANDS
    • Zuid-Holland
    • LEIDEN
    • LOVD database: to provide a flexible, freely available tool for gene-centered collection and display of DNA variations
    • LUMC - Leids Universitair Medisch Centrum
    • Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica
    • More details
    • SPAIN
    • Comunidad Valenciana
    • VALENCIA
    • SEFALer: Laboratory Animals Phenotyping Network
    • CIBERER
    • Centro de Investigación Biomédica en Red de Enfermedades Raras
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • SEFALer: Laboratory Animals Phenotyping Network
    • Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
    • Grupo/Laboratorio de Neurobiología de la Audición / Servicio de Evaluación Neurofuncional no Invasiva
    • More details
    • SWEDEN
    • Stockholms läns landsting
    • STOCKHOLM
    • EURO-GENE-SCAN: European genetic disease diagnostics
    • Karolinska Institutet - Huddinge
    • Department of laboratory medicine
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • ELIXIR: European life sciences infrastructure for biological information
    • EBI - European Bioinformatics Institute
    • More details
    • UNITED KINGDOM
    • Leicestershire
    • LEICESTER
    • GEN2PHEN: genotype-to-phenotype databases: A holistic solution
    • Adrian Building
    • Department of Genetics
    • More details
    • UNITED KINGDOM
    • Oxfordshire
    • OXFORD
    • INSTRUCT: an integrated structural biology infrastructure for Europe
    • Henry Wellcome Building for Genomic Medicine
    • Division of Structural Biology
    • More details
    • UNITED STATES
    • North Carolina
    • DURHAM
    • PhenXToolkit: consensus measures for Phenotypes and eXposures
    • RTI International
    • More details

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  • This screen gives access to a list of technologies and know-how of specific interest to researchers working on rare diseases. The list is sorted by country, region and city.

The technologies and know-how which are registered with Orphanet are those of specific interest for the rare diseases research, and taking place in Europe and surrounding countries. The information which is displayed is provided by the manager of the technological platform or expert methodologists.

The data is updated annually.

::Warning

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