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Proyectos de investigación
ALEMANIA
Baden-Württemberg
TÜBINGEN
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
ALEMANIA
Nordrhein-Westfalen
AACHEN
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Universitätsklinikum Aachen
Klinik für Neurologie
ALEMANIA
Nordrhein-Westfalen
BONN
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy -DE
Universitätsklinikum Bonn (AöR)
Institut für Rekonstruktive Neurobiologie
ALEMANIA
Sachsen
LEIPZIG
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Neurologie
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
FINLANDIA
Finland
OULU
Childhood-onset genetic brain white matter diseases - novel diseases as tools to study myelin formation, maintenance and demyelination
University of Oulu
Biocenter Oulu
FRANCIA
ILE-DE-FRANCE
PARIS
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy - FR
Institut de Psychiatrie et Neurosciences Paris (IPNP), Inserm UMR_S 1266
Equipe Interactions entre neurones et oligodendroglies dans la myélinisation et la réparation de la myéline
ITALIA
LOMBARDIA
MILANO
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy - IT
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica
ESPAÑA
Cataluña
BARCELONA
iGenCO: análisis genómico exhaustivo y análisis cross-ómico para enfermedades minoritarias no diagnosticadas en una plataforma colaborativa amigable
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente
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
FRANCIA
ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale
ITALIA
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAÑA
Madrid
MADRID
Identificación de nuevos genes causantes de enfermedades raras en pacientes pediátricos, identificación de dianas farmacológicas, y descubrimiento de fármacos, los pasos para una medicina personalizada
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
ALEMANIA
Thüringen
JENA
ChromoSomics - Database: 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 Universitetssjukhuset - Solna
Department of 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)
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
Proyectos de investigación multicéntricos
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- VU - Vrije Universiteit, Faculteit Aard- en Levenswetenschappen
- CNCR - Center for Neurogenomics and Cognitive Research
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Haukeland University Hospital
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
FRANCIA
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
LEUKOTREAT: therapeutic challenge in leukodystrophies: translational and ethical research towards clinical trials
PAISES BAJOS (LOS)
Noord-Holland
AMSTERDAM
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy
ITALIA
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
NORUEGA
Vestlandet
BERGEN
NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases
ALEMANIA
Sachsen-Anhalt
MAGDEBURG