Rechercher un projet de recherche
Autre(s) option(s) de recherche
22 Résultat(s)
Projets terminés = 
Financé par un membre IRDiRC = 
Membre d'un ERN = 
Projets de recherche
ESPAGNE
País Vasco
BARAKALDO
Functional characterization of variants of uncertain significance detected by NGS and exome analysis of patients diagnosed with tubulopathy but without genetic confirmation
Instituto de Investigación sanitaria Biocruces Bizkaia
FRANCE
ILE-DE-FRANCE
PARIS
Pheno2Geno: Régulation de NKCC2 et NCC par les interactions Protéine-Protéine: Des tubulopathies avec perte de sel à l'hypertension sensible au sel - FR
Centre de Recherches des Cordeliers (CRC)
Equipe "Métabolisme et Physiologie Rénale"
FRANCE
ILE-DE-FRANCE
PARIS
Identification de Nouveaux Mécanismes Moléculaires impliqués dans le Syndrome de Bartter
Centre de Recherches des Cordeliers (CRC)
Centre de Recherche des Cordeliers (CRC) - INSERM UMRS 1138
ALLEMAGNE
Berlin
BERLIN
CLC Cl- channels and transporters in basic cellular processes and pathological states
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport
ETATS-UNIS
South Dakota
SIOUX FALLS
The molecular regulators of kidney collecting duct differentiation and maintenance
Sanford Research
Surendran Lab
ITALIE
LIGURIA
GENOVA
Functional and structural studies of human CLC chloride proteins involved in genetic diseases
Consiglio Nazionale delle Ricerche
Istituto di Biofisica
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
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
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 investigación en 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 investigación en enfermedades raras, mitocondriales y neuromusculares
Projets de recherche multicentriques
- 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
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