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Financiado por un miembro del IRDiRC = 
Miembro de una ERN = 
Proyectos de investigación
CANADA
Ontario
GUELPH
Biophysics of cell fragility in epidermolysis bullosa simplex keratinocytes
Department of Integrative Biology
REINO UNIDO (EL)
Tayside
DUNDEE
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
University of Dundee
School of Life Sciences
ALEMANIA
Baden-Württemberg
FREIBURG
MINION-EB (Microbiome, INflammatIon & wOuNds in children with Epidermolysis bullosa) - The influence of cutaneous and systemic inflammation as well as cutaneous and enteral microbiom on growth development in children with epidermolysis bullosa: a transverse monocentric study
Universitäts-Klinik für Dermatologie und Venerologie
Epidermolysis bullosa-Zentrum
ITALIA
PIEMONTE
TORINO
Role of PI3K/AKT in stratified epithelia stem cell
Università degli Studi di Torino
Centro di Biotecnologie Molecolari
SUECIA
Region Uppsala
UPPSALA
Studies on the etiology and therapy of monogenetic dermatoses affecting the skin barrier
Akademiska Sjukhuset
Department of Medical Sciences, Dermatology and Venereology
AUSTRIA
WIEN
WIEN
Molecular mechanisms of plectin-related muscular dystrophy
Medizinische Universität Wien
Zentrum für Anatomie und Zellbiologie
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAÑA
Madrid
MADRID
Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético
Fundación Jiménez Díaz
Área de Genética y Genómica
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
Proyectos de investigación multicéntricos
- Universitäts-Klinik für Dermatologie und Venerologie
- Epidermolysis bullosa-Zentrum
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- UMCG - Universitair Medisch Centrum Groningen
- Afdeling Dermatologie
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
- 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
ALEMANIA
Baden-Württemberg
FREIBURG
EBThera: Repurposing biomolecules for the treatment of epidermolysis bullosa
FRANCIA
ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - improving health care and social support for patients and family affected by severe genodermatoses
PAISES BAJOS (LOS)
Groningen
GRONINGEN
EB: identification of revertant mosaicism in epidermolysis bullosa and subsequently using the revertant keratinocytes in a pre-clinical mouse model suitable to test revertant cell therapy (COMPLETED)
ITALIA
LAZIO
ROMA
GENESKIN: European network on rare genetic skin diseases
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