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Projets de recherche
ALLEMAGNE
Nordrhein-Westfalen
BAD OEYNHAUSEN
Molekular diagnosis and pathomechanism in pseudoxanthoma elasticum
Ruhr-Universität Bochum
Institut für Laboratoriums- und Transfusionsmedizin
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Skeletal Genomics
Institution: Information not provided - US
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Identifying therapeutic strategies for the multisystem genetic disorder Pseudoxanthoma Elasticum
Institution: Information not provided - US
ITALIE
EMILIA ROMAGNA
MODENA
Pseudoxanthoma elasticum: from the understanding of pathogenetic mechanisms towards therapeutic perspectives
Università degli Studi di Modena e Reggio Emilia
LabGen - Laboratorio Sequenziamento Genomico
FRANCE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Implication des chimiokines CXCL12 et CXCL14 dans la morphogenèse des muscles des membres induite par le tissu conjonctif.
Institution: Information not provided - FR
ESPAGNE
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica
Centro Nacional de Análisis Genómico
ESPAGNE
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Mise au point d'une méthode d'analyse génétique par mendéliomes et génomes dans le diagnostic des génodermatoses et des maladies génétiques rares à expression cutanée
Hôpital Universitaire de Bruxelles (H.U.B) - Site HUDERF
Dermatologie
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAGNE
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
ESPAGNE
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de Neurogenética y Medicina Molecular
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
ESPAGNE
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
ESPAGNE
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de Enfermedades raras, mitocondriales y neuromusculares
IRLANDE
County Dublin
DUBLIN
Establishment of a scalable semantic data architecture for study of chronic disease
Trinity College Dublin
ADAPT Centre
IRLANDE
County Dublin
DUBLIN
Ensemble averaging for complex disease prediction in the large p small n domain from multiple data sources
Trinity College Dublin
School of Computer Science and Statistcs - O'Reilly Institute
FRANCE
ILE-DE-FRANCE
PARIS
Rho GTPases et maladies cutanées rares
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
Projets de recherche multicentriques
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
- Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
- Cliniques universitaires Saint-Luc - UCLouvain
- Laboratory of Nephrology
- Trinity College Dublin
- ADAPT Centre
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
ITALIE
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
ALLEMAGNE
Baden-Württemberg
HEIDELBERG
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: the European network for the study of orphan nephropathies
IRLANDE
County Dublin
DUBLIN
HELICAL - Health Data Linkage for Clinical Benefit
ITALIE
LAZIO
ROMA