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Progetti di ricerca

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

Natural history and management in Craniosynostoses syndromes
University College London Hospitals, NHS Foundation Trust
Clinical Genetics

GERMANIA

Saarland
HOMBURG

Finanziato da un ente associato a IRDiRCCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments -DE-
Universitätsklinikum des Saarlandes
Institut für Molekulare Zellbiologie

PAESI BASSI

Utrecht
UTRECHT

Finanziato da un ente associato a IRDiRCCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Laboratorium voor Rode Bloedcel Onderzoek

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCDevelopment of experimental models for the study, diagnosis and therapy of mitochondrial diseases
Universidad Autónoma de Madrid. Facultad de Medicina
Departamento de Bioquímica

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

AUSTRIA

SALZBURG
SALZBURG

Finanziato da un ente associato a IRDiRCGENOMIT - Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - AT
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Universitätsklinik für Kinder- und Jugendheilkunde

CANADA

Ontario
OTTAWA, ONTARIO

Finanziato da un ente associato a IRDiRCDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

CANADA

Ontario
TORONTO

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a IRDiRCMitochondria, metabolism and disease
Biocenter 1, University of Helsinki
Institute of Biotechnology

FINLANDIA

Finland
HELSINKI

Molecular basis of mitochondrial disorders
University of Helsinki
Molecular Neurology

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a IRDiRCMechanisms and consequences of mitochondrial translation defects
University of Helsinki
Molecular Neurology

FINLANDIA

Finland
TAMPERE

Finanziato da un ente associato a IRDiRCMitochondria, metabolism and disease
University of Tampere
Institute of Biomedical Technology

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCGENOMIT : Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - FR
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et thérapie des maladies mitochondriales"

FRANCIA

ILE-DE-FRANCE
PARIS

Research on the differential effect of Pioglitazone in mitochondrial diseases
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et thérapie des maladies mitochondriales"

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCGENOMIT : Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique des maladies mitochondriales"

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCIdentification of nuclear genes of mitochondrial diseases with neurological involvement
Laboratoire de Génétique des maladies mitochondriales
UMR_S1163 : Génétique des maladies mitochondriales

FRANCIA

NOUVELLE AQUITAINE
BORDEAUX

Finanziato da un ente associato a IRDiRCUbinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCIA

NOUVELLE AQUITAINE
BORDEAUX

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
NICE

Finanziato da un ente associato a IRDiRCIdentification of new genes and possible de novo mutations in early-onset mitochondrial disorders
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
NICE

Finanziato da un ente associato a IRDiRCEarly-onset neuromuscular presentations of mitochondrial disorders: Identification of new genes by exome sequencing
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

GERMANIA

Baden-Württemberg
TÜBINGEN

Finanziato da un ente associato a IRDiRCmitOmics: Mitochondrial diseases - Definition of genetic architecture through genome sequencing and transcription analysis
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANIA

Niedersachsen
GÖTTINGEN

Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

GIAPPONE

JAPAN
ADDRESS : NOT PROVIDED - JP

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCIdentificazione e caratterizzazione di geni nucleari responsabili di malattie mitocondriali umane
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALIA

VENETO
PADOVA

Finanziato da un ente associato a IRDiRCMitCare-2
Venetian Institute of Molecular Medicine
Dulbecco Telethon Institute

REGNO UNITO; GRAN BRETAGNA

Greater Manchester
ADDRESS: NOT PROVIDED - UK

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

ESDN: European Skeletal Dysplasia Network (coordination)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

UNGHERIA

Közép-Magyarország
BUDAPEST

Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

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
ADDRESS : NOT PROVIDED - JP

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

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCProgramma Telethon per le malattie senza diagnosi
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

SVIZZERA

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

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

HAUTS-DE-FRANCE
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALIA

LIGURIA
GENOVA

Nuove tecnologie e nuove strategie per lo screening neonatale di massa
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

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

Stockholms läns landsting
STOCKHOLM

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

SVIZZERA

Suisse Romande
LAUSANNE

Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires

Progetti di ricerca multicentrici