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45 Resultado(s)

Ordenados por

Financiado por un miembro del IRDiRC =

Proyectos de investigación

REINO UNIDO (EL)

West Midlands
BIRMINGHAM

EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

SUECIA

Stockholms läns landsting
STOCKHOLM

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

FRANCIA

ILE-DE-FRANCE
PARIS

Financiado por un miembro del IRDiRCEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - FR
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire

ITALIA

CAMPANIA
NAPOLI

EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

PAISES BAJOS (LOS)

Gelderland
NIJMEGEN

An integrative approach to understand and antagonize ciliopathy phenotypes
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

BELGICA

OOST-VLAANDEREN
GENT

Cis-regulatory mapping of the RPE-expressed transcription factor OTX2
Center for Medical Genetics Gent
Centrum voor Medische Genetica

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

Financiado por un miembro del IRDiRCDIVERCIL: Understanding cilia and flagella diversity - FR
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

FRANCIA

GRAND-EST
STRASBOURG

Retinis Pigmentosa: validation of the molecular diagnostic using next generation sequencing
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique

FRANCIA

ILE-DE-FRANCE
GENNEVILLIERS

Financiado por un miembro del IRDiRCAnnouncement of a severe renal fetal pathology detected during pregnancy
Université de Cergy-Pontoise
Ecole, Mutations, Apprentissages

FRANCIA

ILE-DE-FRANCE
PARIS

Epidemiological study in hereditary dystrophies of retina
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts

FRANCIA

ILE-DE-FRANCE
PARIS

FRANCIA

OCCITANIE
MONTPELLIER

Gene therapy of retinal dystrophy on human models: differentiation of patients iPS cells to retinal cells
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

IRLANDA

County Dublin
DUBLIN

Irish Kidney Gene Project
Beaumont Hospital
Kidney Centre

ITALIA

LOMBARDIA
RANICA

Financiado por un miembro del 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 BAJOS (LOS)

Gelderland
NIJMEGEN

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

REINO UNIDO (EL)

Cambridgeshire
CAMBRIDGE

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

REINO UNIDO (EL)

Cambridgeshire
HINXTON

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

ALEMANIA

Hessen
GIEßEN

Diagnosis and therapy of hereditary retinal diseases
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde

FRANCIA

ILE-DE-FRANCE
PARIS

Financiado por un miembro del 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

Financiado por un miembro del 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 un miembro del IRDiRCTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPON

JAPAN
ADDRESS : NOT PROVIDED - JP

JAPON

JAPAN
ADDRESS : NOT PROVIDED - JP

SUIZA

Suisse Alémanique
BASEL

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

Proyectos de investigación multicéntricos