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Progetti di ricerca

ISRAELE

ISRAEL
ADDRESS: NOT PROVIDED - IL

Finanziato da un ente associato a IRDiRCZebrafish as a model system for GNE Myopathy
Institution: Information not provided - IL

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCCell biology of metabolic disorders
Institution: Information not provided - US

BELGIO

ANTWERPEN
ANTWERPEN

FRANCIA

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Finanziato da un ente associato a IRDiRCEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation - FR
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 3)
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor

GERMANIA

Berlin
BERLIN

Finanziato da un ente associato a IRDiRCEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 4)
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik

GERMANIA

Niedersachsen
GÖTTINGEN

GERMANIA

Nordrhein-Westfalen
MÜNSTER

CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

SPAGNA

Cataluña
ESPLUGUES DE LLOBREGAT

CANADA

Ontario
OTTAWA

Finanziato da un ente associato a 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

Finanziato da un ente associato a IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCEstablishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
National Center of Neurology and Psychiatry
Department of Neuromuscular Research

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCProgramma Italiano per lo screening neonatale esteso
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCMalattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAGNA

Castilla - León
SALAMANCA

Finanziato da un ente associato a IRDiRCStudy of patients with inherited platelet disorders by exome sequencing and DNA editing by CRISPR/CAS9
Hospital Clínico Universitario de Salamanca
Servicio de Hematología

SPAGNA

Madrid
MADRID

SPAGNA

Murcia
MURCIA

Finanziato da un ente associato a IRDiRCFunctional, molecular characterization and development of a gene complementation model in congenital platelet disorders
Hospital General Universitario Morales Meseguer
Servicio de Hematología y Oncología Médica

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVEZIA

Region Stockholm
STOCKHOLM

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

SVIZZERA

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

CANADA

Ontario
TORONTO

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCIA

PAYS DE LA LOIRE
NANTES

Finanziato da un ente associato a IRDiRCFROGH : 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

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
BRON

ITALIA

LOMBARDIA
MILANO

RBDD: Rede Database delle Malattie Rare della Coagulazione (coordination)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio di Patologie Molecolari Applicate alla Clinica

ITALIA

VENETO
PADOVA

Finanziato da un ente associato a IRDiRCIl ruolo di Raptor/mTORC1 nel muscolo scheletrico adulto
Venetian Institute of Molecular Medicine
Dipartimento di Scienze Biomediche

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

CANADA

Ontario
TORONTO

Progetti di ricerca multicentrici