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Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

ILE-DE-FRANCE
VILLEJUIF

Funded by an IRDiRC memberTransition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe Epidémiologie des radiations, épidémiologie clinique des cancers et survie

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Adrenal stem cells: identification, generation and culture for genetic modification
Université de Nice Sophia-Antipolis - Faculté des sciences
Génétique du développement normal et pathologique

SWEDEN

Region Stockholm
STOCKHOLM

Molecular and clinical studies of bladder exstrophy and congenital adrenal hyperplasia
Karolinska Institutet - Solna
Department of Women's and Children's Health

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberContinuous subcutaneous hydrocortisone infusion treatment for cah
Institution: Information not provided - US

SWEDEN

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SWITZERLAND

Suisse Romande
FRIBOURG

Understanding human sex development and its defects: novel approaches
Université de Fribourg
Département d'endocrinologie, métabolisme et système cardiovasculaire (EMC)

CANADA

Ontario
TORONTO

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

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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe physiology of adrenal insufficiency
Institution: Information not provided - US

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

Multicentric Research projects