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Funded by an IRDiRC member = Member of a ERN =

Research projects

GERMANY

Baden-Württemberg
ULM

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

JAPAN

JAPAN
MIYAGI

Funded by an IRDiRC memberPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

GERMANY

Baden-Württemberg
HEIDELBERG

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

GERMANY

Niedersachsen
HANNOVER

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

SPAIN

Cataluña
SABADELL

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberEvaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

SWEDEN

Region Västerbotten
UMEÅ

CANADA

Ontario
TORONTO

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberPredictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberDevelopment of novel disease-causing gene based therapies for cardiomyopathies
Tokyo Medical and Dental University Medical Research Institute

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberPersonalizing The Risk Of Stroke And Silent Brain Infarct In Cardiovascular Disease
Hospital General Universitario Gregorio Marañón
Servicio de Cardiología

SPAIN

Madrid
MADRID

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberMechanosensitive ionic channels in zebrafish heart regeneration
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Multicentric Research projects