Búsqueda de un proyecto
Otra(s) opcion(es) de búsqueda
24 Resultado(s)
Financiado por un miembro del IRDiRC = 
Proyectos de investigación
CANADA
Québec
MONTRÉAL
Clinical, radiological and genetic characterization of new forms of leukodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory
ESPAÑA
Madrid
MADRID
Investigación en moléculas híbridas como estrategias terapéuticas innovadoras para la Esclerosis Múltiple y enfermedades desmielinizantes raras
Instituto Cajal (CSIC)
GNDe - Grupo de Neurobiología del Desarrollo
ESPAÑA
Madrid
MADRID
RAREGenomics: Red de Recursos Genómicos, Funcionales, Clínicos y Terapeúticos para el Estudio de las Enfermedades Raras Neurológicas
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
ITALIA
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : 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
FROGH : 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
JAPON
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPON
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPON
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
ALEMANIA
Thüringen
JENA
Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik
FRANCIA
BOURGOGNE-FRANCHE-COMTE
DIJON
Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire
ITALIA
LAZIO
ROMA
Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SUECIA
Region Stockholm
STOCKHOLM
Chromosomal anomaly
Karolinska Universitetsjukhuset - Klinisk Genetik
Clinical Genetics (Klinisk genetik)
ALEMANIA
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
REINO UNIDO (EL)
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
Proyectos de investigación multicéntricos
- Medizinische Fakultät der Universität Bonn
- Institut für Biochemie und Molekularbiologie
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
ALEMANIA
Nordrhein-Westfalen
BONN
LEUKONET: German Leukodystrophy Network
FRANCIA
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
LEUKOTREAT: therapeutic challenge in leukodystrophies: translational and ethical research towards clinical trials
ESPAÑA
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Fundación Centro de Investigación de Enfermedades Neurológicas
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIA
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
ALEMANIA
Sachsen-Anhalt
MAGDEBURG