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40 Ergebnis(se)
Förderung durch ein IRDiRC-Mitglied = 
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Forschungsprojekt(e)
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Input of a multidisciplinary management approach in announcing the diagnosis for young children with serious constitutional hemorrhagic disease and their families
CHU de Marseille - Hôpital de la Timone
Service d'Hématologie Immunologie Oncologie Pédiatrique
SPANIEN
Cataluńa
BARCELONA
Approach to inherited bleeding disorders of complex etiology by applying a common exome sequencing strategy
Banc de Sang i Teixits. Edifici Dr. Frederic Duran i Jordŕ
Unidad de Diagnóstico y Terapia Molecular
DEUTSCHLAND
Mecklenburg-Vorpommern
GREIFSWALD
Mutationsspektrum und klinische Symptomatik bei Patienten mit genetisch bedingten Hämostasestörungen
Institut für Humangenetik der Universitätsmedizin Greifswald
Institut für Humangenetik
FRANKREICH
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Search for Scott syndrom causative mutation(s)
Faculté de Pharmacie de Strasbourg
Laboratoire de Bioimagerie et Pathologies - LBP
FRANKREICH
ILE-DE-FRANCE
PARIS
Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisičre F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique
ITALIEN
LOMBARDIA
MILANO
RBDD: Rare Bleeding Disorders Database network (coordination)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio di Patologie Molecolari Applicate alla Clinica
FRANKREICH
AUVERGNE-RHONE-ALPES
PRAGUE
Role on Nonmuscle Myosin II in membrane trafficking and organ function
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANKREICH
GRAND-EST
STRASBOURG
Bernard-Soulier Syndrome and MYH9 associated diseases: study of blood platelets anomalies and of the thrombopoďesis, correction by genetic therapy
Établissement Français du Sang - Grand Est
UR U311 - Biologie et pharmacologie de l'hémostase et de la thrombose
FRANKREICH
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
FRANKREICH
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
ISRAEL
ISRAEL
ADDRESS: NOT PROVIDED - IL
Zebrafish as a model system for GNE Myopathy
Institution: Information not provided - IL
ITALIEN
LOMBARDIA
PAVIA
A silk-based bone marrow model to predict individual response to old and new drugs for increasing platelet count in inherited thrombocytopenias
Fondazione IRCCS Policlinico San Matteo
Clinica Medica III
JAPAN
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
JAPAN
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
JAPAN
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
KANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
SPANIEN
Comunidad Valenciana
VALENCIA
Comprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia
SPANIEN
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Functional and translational studies of runx1 and cbfb in hematopoiesis
Institution: Information not provided - US
FRANKREICH
GRAND-EST
STRASBOURG
Characterisation of mutations responsible for Bernard-Soulier syndrome (GP1BA, BP1BB and GP9 genes)
Établissement Français du Sang - Grand Est
UR U311 - Biologie et pharmacologie de l'hémostase et de la thrombose
ITALIEN
LOMBARDIA
MILANO
Production of vectors for gene therapy (Wiskott-Aldrich Syndrome and Metachromatic Leukodystrophy)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica
ITALIEN
LOMBARDIA
MILANO
Wiskott-Aldrich syndrome: characterization of immune system defects and gene therapy preclinical studies
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unitŕ di Ricerca Clinica
KANADA
Ontario
TORONTO
Inherited bone marrow failure syndromes: from genomic discoveries to biology
Hospital for Sick Children, Research Institute
SCHWEDEN
Region Stockholm
HUDDINGE
Unraveling the mechanisms for development of primary immunodeficiency using experimental models (Wiskott-Aldrich syndrome and X-linked severe congenital neutropenia)
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
SPANIEN
País Vasco
BARAKALDO
In vitro modeling of primary immunodeficiencies with defects in NK cells
Instituto de Investigación sanitaria Biocruces Bizkaia
Grupo de investigación en terapia celular, células madre y tejidos
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Gene therapy approaches for primary immunodeficiencies
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Molecular and clinical studies of primary immunodeficiencies
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Clinical research of oral connective tissue program
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Protein trafficking in the endosomal-lysosomal system
Institution: Information not provided - US
VEREINIGTES KONIGREICH
Devon
EXETER
The Fundamentals of Phagocytosis: Integrating Theoretical Models and Experiments
University of Exeter, Physics building
Department of Physics and Astronomy
ITALIEN
LAZIO
ROMA
Role of Dystrophin-associated protein complex (DPC) in intracellular signaling and trafficking pathways
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare
VEREINIGTES KONIGREICH
Cambridgeshire
CAMBRIDGE
Understanding granule disorders of myeloid cells by unravelling the interactome and function of the Nbeal2 protein
University of Cambridge
Departmet of Haematology
Multizentrische Forschungsprojekte
- 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
- Fondazione IRCCS Policlinico San Matteo
- Clinica Medica III
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Unitŕ di Ricerca Clinica
FRANKREICH
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANKREICH
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIEN
LOMBARDIA
PAVIA
EUPLANE: EUropean PLAtelet NEtwork for studying physiopathology of two inherited thrombocytopenias, THC2 and MYH9-RD, characterized by genetic alterations of RUNX1-target genes
KANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
ITALIEN
LOMBARDIA
MILANO