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Abgeschlossene Forschungsprojekte = Förderung durch ein IRDiRC-Mitglied =
ERN-Mitglied =
Forschungsprojekt(e)

BELGIEN
OOST-VLAANDEREN
GENT
Characterisation of genes and molecular mechanisms involved in hereditary connective tissue diseases by studying transgenic animal models and human tissues
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent

FRANKREICH
ILE-DE-FRANCE
CRÉTEIL
Mechanisms of regulation of muscle stem cell quiescence by the extracellular matrix of the niche
Hôpitaux Universitaires Henri Mondor
CHU Henri Mondor

NORWEGEN
Østlandet
NESODDTANGEN
A cross sectional study of physical function and psychosocial aspects in adults with Hereditable Thoracic Aortic Disease (HTAD)
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

DEUTSCHLAND
Nordrhein-Westfalen
AACHEN
POTSKog Studie Aachen: Erforschung von Konzentrations- und Aufmerksamkeitsdefiziten sowie deren Pathophysiologie beim Posturalen Orthostatischen Tachykardie Syndrom (POTS) und anderen autonomen Neuropathien
Universitätsklinikum Aachen
Klinik für Neurologie

DEUTSCHLAND
Nordrhein-Westfalen
AACHEN
ProANS-Study: Autonome Neuropathie und ihre Pathophysiologie bei autoimmunen autonomen Neuropathien, dem Posturalen orthostatischen Tachykardie-Syndrom und Ehlers-Danlos-Syndromen: Periphere autonome Small-Fiber-Neuropathie oder zentral-autonomes Versagen?
Universitätsklinikum Aachen
Klinik für Neurologie

FRANKREICH
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Involvement of CXCL12 and CXCL14 chemokines in connective tissue-mediated limb muscle morphogenesis.
Institution: Information not provided - FR

FRANKREICH
HAUTS-DE-FRANCE
LILLE
Prevalence of Mast Cell Activation Syndrome in Patients With Ehlers Danlos Hypermobile Syndrome With Digestive Disorders
Université Catholique de Lille

FRANKREICH
ILE-DE-FRANCE
BOULOGNE BILLANCOURT
Activity patterns of people with Hypermobile Ehlers-Danlos syndrome: Associated factors and decision making
Institut de Psychologie Centre Henri Piéron
Laboratoire de Psychopathologie et Processus de Santé

NORWEGEN
Østlandet
NESODDTANGEN
Levels of activity and independence: a study of the interface of current health policy discourse and subjective realities
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

VEREINIGTE STAATEN
New York
NEW YORK
The Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) Study
The Ehlers-Danlos Society

BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie

KANADA
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

KANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

SPANIEN
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

SPANIEN
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

SPANIEN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia

SPANIEN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

SPANIEN
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

SPANIEN
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

SPANIEN
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

SPANIEN
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

SPANIEN
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

FRANKREICH
ILE-DE-FRANCE
PARIS
Rho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
Multizentrische Forschungsprojekte
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare

ITALIEN
LAZIO
ROMA