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Financiado por un miembro del IRDiRC = 
Proyectos de investigación
ALEMANIA
Baden-Württemberg
FREIBURG
A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
ALEMANIA
Baden-Württemberg
FREIBURG
EWOG-MDS-RC-06: TCR Vbeta repertoire and PNH clones in children with Refractory Cytopenia (RC). An open nonrandomised multicenter prospective study
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
CANADA
Ontario
TORONTO
Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute
ESPAÑA
Andalucía
SEVILLA
Modelos matemáticos de mecanismos de enfermedad para la reformulación de fármacos en enfermedades raras
Fundación Progreso y Salud
Área de bioinformática clínica
ESPAÑA
Comunidad Valenciana
VALENCIA
Respuestas epigenéticas a cambios en el entorno redox nuclear. Posibles dianas terapéuticas en enfermedades raras
INCLIVA
Grupo de investigación en Fisiopatología celular y orgánica del estrés oxidativo
ESPAÑA
Murcia
MURCIA
Disqueratosis congénita. Nuevos modelos, nuevas claves moleculares y nuevos tratamientos
IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
Grupo de Cirugía digestiva, endocrina y trasplante de órganos abdominales
ESPAÑA
Murcia
MURCIA
Mecanismos implicados en las alteraciones hematopoyéticas y cáncer en la Disqueratosos congénita. Búsqueda de terapias
IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
Grupo de Cirugía digestiva, endocrina y trasplante de órganos abdominales
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US
FRANCIA
ILE-DE-FRANCE
PARIS
Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique
ITALIA
CAMPANIA
NAPOLI
Designing therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl
ITALIA
LAZIO
ROMA
Study of inherited skin disorders: molecular pathogenesis, diagnosis and genotype-phenotype correlation
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O.C. di Dermatologia
ITALIA
PIEMONTE
TORINO
Translating current and new knowledge on the developmental function of p63 into restoring normal development in models of organ culture and in vivo.
Università degli Studi di Torino
Centro di Biotecnologie Molecolari
JAPON
JAPAN
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics
PAISES BAJOS (LOS)
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
REINO UNIDO (EL)
Greater London
LONDON
The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
Barts and The London School of Medicine and Dentistry
Centre for Paediatrics
REINO UNIDO (EL)
Lothian
EDINBURGH
Identification of genes for Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome, Meier-Gorlin syndrome and Dubowitz syndrome), and Primary Microcephaly (with short stature)
Western General Hospital
MRC Human Genetics Unit
ALEMANIA
Bayern
ERLANGEN
ECP-002e: Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 - DE
Kinder- und Jugendklinik des Universitätsklinikums Erlangen
Abteilung für Molekulare Pädiatrie
ALEMANIA
Bayern
MÜNCHEN
Investigation of the genetics of the hair shaft abnormality pili annulati in 5 families
Klinik und Poliklinik für Dermatologie und Allergologie - Campus Innenstadt
Interdisziplinäres Zentrum für genetische und seltene Hautkrankheiten
ALEMANIA
Bayern
REGENSBURG
Structural, physiological and molecular basis of renal function - task A (glomerular and tubular function) : Interaction and target genes of LMX1B (causative for nail-patella syndrome)
Universität Regensburg
Lehrstuhl für Molekulare und Zelluläre Anatomie
ALEMANIA
Hessen
GIEßEN
RBM28: comprehensive analysis of its role in human disease and neuroepithelial tissue development
Justus-Liebig-Universität Gießen
Institut für Biochemie - AG Prof. Dr. A. Bindereif
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Preclinical evaluation of vorinostat in alopecia areata
Institution: Information not provided - US
FRANCIA
ILE-DE-FRANCE
PARIS
Homeotic transformation of the jaw and central respiratory disorders in Auriculo-Condylar syndrome
IMAGINE - Institut des Maladies Génétiques
Equipe "Embryologie et Génétiques des malformations congénitales"
ITALIA
VENETO
ZELARINO
Advanced therapy medicinal products for the treatment of ocular defects in Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare
REINO UNIDO (EL)
Tayside
DUNDEE
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
University of Dundee
School of Life Sciences
Proyectos de investigación multicéntricos
- Zentrum für Kinder- und Jugendmedizin Freiburg
- Sektion Pädiatrische Genetik der Klinik für Allgemeine Kinder- und Jugendmedizin
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Department of Health
- EPS Hédi Chaker
- Service de dermatologie
ALEMANIA
Baden-Württemberg
FREIBURG
FACE: Network for selected craniofacial developmental disorders
ALEMANIA
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network
ALEMANIA
Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening
FRANCIA
ILE-DE-FRANCE
PARIS
GM: study group on Incontinentia pigmenti and anhidrotic ectodermal dysplasia - part of the Genodermatosis in Mediterranean network
ITALIA
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
REINO UNIDO (EL)
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
TUNEZ
TUNISIA
SFAX