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Financiado por um membro do IRDiRC =

Projetos de investigação

ALEMANHA

Berlin
BERLIN

Financiado por um membro do IRDiRCEPISTOP: Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex DE
Charité - Universitätsmedizin Berlin (CVK)
Sozialpädiatrisches Zentrum - Abteilung Neuropädiatrie/Entwicklungsneurologie/Neonatologie

ALEMANHA

Baden-Württemberg
FREIBURG

Molecular epidemiology of cystic kidney disease
Universitätsklinikum Freiburg
Klinik für Innere Medizin IV - Sektion für präventive Medizin

ALEMANHA

Baden-Württemberg
FREIBURG

Polycystic Kidney Disease - from Model Organisms to Novel Therapies (KFO 201) -coordination
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab - Walz Laboratory

ALEMANHA

Baden-Württemberg
FREIBURG

The role of planar cell polarity proteins in renal development (SFB 592)
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab - Walz Laboratory

ALEMANHA

Niedersachsen
HANNOVER

Financiado por um membro do IRDiRCNEOCYST: Urinomics - Identification of biomarkers for cystic kidney diseases
Medizinische Hochschule Hannover
Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen

ALEMANHA

Nordrhein-Westfalen
KÖLN

Financiado por um membro do IRDiRCNEOCYST: Molecular biology in cystic nephropathies
Universitätsklinikum Köln
Pädiatrische Nephrologie, Immunologie und Hypertensiologie

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

Financiado por um membro do IRDiRCNEOCYST: Network of Early Onset Cystic Kidney Disease (coordination)
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

Financiado por um membro do IRDiRCNEOCYST: Development of standard of care guidelines for cystic kidney disease
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

ALEMANHA

Rheinland-Pfalz
INGELHEIM AM RHEIN

Financiado por um membro do IRDiRCNEOCYST: Molecular genetics in cystic nephropathies
Bioscientia Institut für Medizinische Diagnostik GmbH
Labor Ingelheim mit Zentrum für Humangenetik

ALEMANHA

Rheinland-Pfalz
INGELHEIM AM RHEIN

SFB 1140 (KIDGEM) : Identification of TULP3-mutations in patients with cystic kidney disease and related ciliopathies
Bioscientia Institut für Medizinische Diagnostik GmbH
Labor Ingelheim mit Zentrum für Humangenetik

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCGenomic study of early-onset nephropathies
Fundació Puigvert
Laboratorio de Biología Molecular

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

ITALIA

LOMBARDIA
PAVIA

Financiado por um membro do IRDiRCHigh resolution array-CGH and gene expression analyses in autism spectrum disorders
Università degli Studi di Pavia
Dipartimento di Genetica e Microbiologia

SUECIA

Stockholms läns landsting
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

ALEMANHA

Baden-Württemberg
HEIDELBERG

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

ALEMANHA

Hessen
MARBURG

Financiado por um membro do IRDiRCASD-NET: Autism spectrum disorder throughout the lifespan - More effective care through valid diagnoses and a better understanding of etiology
Universitätsklinik für Kinder- und Jugendpsychiatrie
Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie

ALEMANHA

Niedersachsen
HANNOVER

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCASD-NET: Analysis of current disease-related costs and models of efficient care for autism spectrum disorders
Kliniken der Heinrich-Heine Universität Düsseldorf
Abteilung für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Targeted high-throughput sequencing sequencing diagnostic strategy for autistim spectrum disorders with or without intellectual disability
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCA

ILE-DE-FRANCE
GENNEVILLIERS

Financiado por um membro do IRDiRCAnnouncement of a severe renal fetal pathology detected during pregnancy
Université de Cergy-Pontoise
Ecole, Mutations, Apprentissages

FRANCA

PAYS DE LA LOIRE
ANGERS

IRLANDA

County Dublin
DUBLIN

Irish Kidney Gene Project
Beaumont Hospital
Kidney Centre

ITALIA

LOMBARDIA
RANICA

Financiado por um membro do IRDiRCEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - IT
Istituto di Ricerche Farmacologiche Mario Negri
Centro di Ricerche Cliniche per le Malattie Rare

PAISES BAIXOS

Gelderland
NIJMEGEN

EUNEFRON: rare disorders of the collecting dust (WP5)
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

PORTUGAL

SUL
LISBOA

Neuroimagem dinâmica não-invasiva em epilepsia
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

REINO UNIDO

Cambridgeshire
CAMBRIDGE

Financiado por um membro do IRDiRCNIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
Addenbrooke's Hospital
Academic Department of Medical Genetics

REINO UNIDO

Devon
EXETER

Financiado por um membro do IRDiRCThe role and regulation of Hepatocyte Nuclear Factor-1 Beta in man
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

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

ITALIA

LAZIO
ROMA

GENESKIN: European network on rare genetic skin diseases (coordination)
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare

REINO UNIDO

Lothian
EDINBURGH

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

Projetos de investigação multicêntricos