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31 Ergebnis(se)
Förderung durch ein IRDiRC-Mitglied = ERN-Mitglied =
Forschungsprojekt(e)

ITALIEN
ABRUZZO
L'AQUILA
Transfer strategy microparticles for the treatment of osteoporosis-induced deficits in RANKL (Receptor Activator of NF-kB Ligand)
Universitŕ degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US

DEUTSCHLAND
Berlin
BERLIN
CLC Cl-Kanäle und Transporter in grundlegenden zellulären Prozessen und pathologischen Zuständen
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport

ITALIEN
ABRUZZO
L'AQUILA
New therapeutic approaches to osteopetrosis
Universitŕ degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

ITALIEN
LIGURIA
GENOVA
Functional and structural studies of human CLC chloride proteins involved in genetic diseases
Consiglio Nazionale delle Ricerche
Istituto di Biofisica

KANADA
Ontario
OTTAWA, ONTARIO
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

SCHWEDEN
Region Stockholm
HUDDINGE
Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Accessory membrane and intracellular mediators in bone cell mechanotransduction
Institution: Information not provided - US

VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mechanistic and therapeutic studies of autosomal dominant osteopetrosis
Institution: Information not provided - US

VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Regulation of gastric and osteoclast acidification by snx10
Institution: Information not provided - US

VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

DEUTSCHLAND
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Europaweites Netzwerk zum Outcome von angeborenen Fehlbildungen (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

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

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
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

SPANIEN
Madrid
MADRID
Evaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

VEREINIGTES KONIGREICH
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
Multizentrische Forschungsprojekte
- Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
- S.C. Laboratorio di Oncologia Sperimentale
- IRCCS Ospedale Pediatrico Bambino Gesů - SEDE GIANICOLO
- Dipartimento di Medicina Pediatrica
- Institution : Information not provided - FI
- Newcastle upon Tyne Hospitals NHS Trust
- John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- 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 Gesů - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- University of British Columbia
- Maternal Infant Child and Youth Research Network

ITALIEN
EMILIA ROMAGNA
BOLOGNA
Research group of the Italian Sarcoma Group

ITALIEN
LAZIO
ROMA
OSTEOPETR: new genes and therapeutic approaches to osteopetrosis

FINNLAND
Finland
ADDRESS : NOT PROVIDED - FI
LADOMICS: Multi-omics approaches for discovery of new disease mechanisms of LAD-I and LAD-III immunodeficiencies

VEREINIGTES KONIGREICH
Tyne & Wear
NEWCASTLE UPON TYNE
SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases

DEUTSCHLAND
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems

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
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)

KANADA
Colombie-Britannique
VANCOUVER