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Financé par un membre IRDiRC =

Projets de recherche

CANADA

Ontario
OTTAWA

Financé par un membre IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Financé par un membre IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SUEDE

Region Stockholm
STOCKHOLM

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

SUISSE

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCE

ILE-DE-FRANCE
PARIS

Génétique des dyslipidémies: relations génotype-phénotype; retentissement vasculaire des dyslipidémies héréditaires chez l'enfant
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Nutrition et Gastroentérologie Pédiatriques

FRANCE

ILE-DE-FRANCE
PARIS

Financé par un membre IRDiRCSTaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

PAYS DE LA LOIRE
NANTES

Financé par un membre IRDiRCFROGH : Etude Génétique de la Population Française - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

JAPON

JAPAN
TOKYO

Financé par un membre IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ALLEMAGNE

Bayern
MÜNCHEN

Financé par un membre IRDiRCENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (partner DE)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

ALLEMAGNE

Nordrhein-Westfalen
AACHEN

AUTRICHE

WIEN
ADDRESS: NOT PROVIDED - AT

Loss of MMP12 in LAL-D and cardiometabolic disease
Institution: Information not provided - AT

BELGIQUE

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Financé par un membre IRDiRCENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (coordinator)
European Commission
DG Research - Directorate General for Research

BELGIQUE

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Financé par un membre IRDiRCENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (partner DE)
European Commission
DG Research - Directorate General for Research

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCInborn errors of cholesterol synthesis
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMammalian developmental genetics and stem cells
Institution: Information not provided - US

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Financé par un membre IRDiRCMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

SUEDE

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

AUTRICHE

WIEN
ADDRESS: NOT PROVIDED - AT

ABHD5 and PNPLA1 Function in the Skin
Institution: Information not provided - AT

ESPAGNE

Cataluña
REUS

Early detection of familial hypercholesterolemia in children in Tarragona province
Hospital Universitari de Sant Joan de Reus
Servicio de Medicina Interna

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCTherapeutics for the chorioretina
Institution: Information not provided - US

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

JAPON

JAPAN
OSAKA

Financé par un membre IRDiRCDevelopment of a novel drug including medium chain faty acids for triglyceride deposit cardiomyovasculpathy
Osaka University Graduate School of Medicine
Department of Cardiovascular Medicine

Projets de recherche multicentriques