Orphanet: Search by disease/gene
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Funded by an IRDiRC member =

Research projects

GERMANY

Mecklenburg-Vorpommern
GREIFSWALD

Mutational spectra and clinical manifestation in patients with congenital haemophilia
Institut für Humangenetik der Universitätsmedizin Greifswald
Institut für Humangenetik

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

SPAIN

Castilla - León
SALAMANCA

Funded by an IRDiRC memberStudy of patients with inherited platelet disorders by exome sequencing and DNA editing by CRISPR/CAS9
Hospital Clínico Universitario de Salamanca
Servicio de Hematología

SPAIN

Murcia
MURCIA

Funded by an IRDiRC memberFunctional, molecular characterization and development of a gene complementation model in congenital platelet disorders
Hospital General Universitario Morales Meseguer
Servicio de Hematología y Oncología Médica

ITALY

LOMBARDIA
MILANO

RBDD: Rare Bleeding Disorders Database network (coordination)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio di Patologie Molecolari Applicate alla Clinica

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

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

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

CANADA

Ontario
TORONTO

Multicentric Research projects