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Financiado por um membro do IRDiRC =

Projetos de investigação

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCGenCognition: Genetic basis of intellectual disability and other cognitive disorders
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCA

PAYS DE LA LOIRE
NANTES

In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire

REINO UNIDO

Cambridgeshire
CAMBRIDGE

Financiado por um membro do IRDiRCActive BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

FRANCA

PAYS DE LA LOIRE
ANGERS

REINO UNIDO

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCGenetic-molecular approach of mitochondrial diseases of the OXPHOS system: identification of phenotype conditioning factors
Vall d'Hebron Institut de Recerca VHIR
Unidad de Patología Neuromuscular y Mitocondrial

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCDevelopment of experimental models for the study, diagnosis and therapy of mitochondrial diseases
Universidad Autónoma de Madrid. Facultad de Medicina
Departamento de Bioquímica

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do 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

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do 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

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAO

JAPAN
ADDRESS : NOT PROVIDED - JP

JAPAO

JAPAN
ADDRESS : NOT PROVIDED - JP

ALEMANHA

Baden-Württemberg
TÜBINGEN

Financiado por um membro do 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

ALEMANHA

Niedersachsen
GÖTTINGEN

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

AUSTRIA

SALZBURG
SALZBURG

Financiado por um membro do 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

FINLANDIA

Finland
ADDRESS : NOT PROVIDED - FI

FINLANDIA

Finland
HELSINKI

Financiado por um membro do 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

Financiado por um membro do IRDiRCMechanisms and consequences of mitochondrial translation defects
University of Helsinki
Molecular Neurology

FINLANDIA

Finland
TAMPERE

Financiado por um membro do IRDiRCMitochondria, metabolism and disease
University of Tampere
Institute of Biomedical Technology

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do 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"

FRANCA

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"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do 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"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCIdentification of nuclear genes of mitochondrial diseases with neurological involvement
Laboratoire de Génétique des maladies mitochondriales
UMR_S1163 : Génétique des maladies mitochondriales

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

Financiado por um membro do IRDiRCUbinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

FRANCA

PROVENCE-ALPES-COTE D'AZUR
NICE

Financiado por um membro do 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)

FRANCA

PROVENCE-ALPES-COTE D'AZUR
NICE

Financiado por um membro do 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)

HUNGRIA

Közép-Magyarország
BUDAPEST

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

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCIdentification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALIA

TOSCANA
PISA

Financiado por um membro do IRDiRCDeveloping tools for trial readiness in primary mitochondrial myopathies of the adulthood
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
U.O. di Neurologia - Neurofisiopatologia

ITALIA

VENETO
PADOVA

Financiado por um membro do IRDiRCMitCare-2
Venetian Institute of Molecular Medicine
Dulbecco Telethon Institute

JAPAO

JAPAN
ADDRESS : NOT PROVIDED - JP

REINO UNIDO

Greater Manchester
ADDRESS: NOT PROVIDED - UK

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

Financiado por um membro do IRDiRCNewcastle University Single Cell Functional Genomics Unit (NUSCU)
Newcastle University
Institute of Genetic Medicine

CANADA

Ontario
OTTAWA

Financiado por um membro do 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

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

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

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SUECIA

Stockholms läns landsting
STOCKHOLM

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

SUICA

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

Projetos de investigação multicêntricos