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28 Ergebnis(se)
Abgeschlossene Forschungsprojekte = Förderung durch ein IRDiRC-Mitglied =
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Forschungsprojekt(e)

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

DEUTSCHLAND
Hamburg
HAMBURG
Multizentrische prospektive Kohortenstudie zu aktuellen Behandlungsmethoden der Legg-Calvé-Perthes-Krankheit
AKK Altonaer Kinderkrankenhaus gGmbH
Fachabteilung für Kinderorthopädie

DEUTSCHLAND
Schleswig-Holstein
LÜBECK
Multizentrische prospektive Kohortenstudie zu aktuellen Behandlungsmethoden der Legg-Calvé-Perthes-Krankheit
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Orthopädie und Unfallchirurgie - Sektion für Orthopädie

FRANKREICH
ILE-DE-FRANCE
PARIS
Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
AP-HP.Centre - Université de Paris - Hôpital Cochin
Service de Médecine Génomique des Maladies de Systčme et d'Organe

FRANKREICH
ILE-DE-FRANCE
PARIS
Schwartz-Jampel syndrome and perlecan deficiency: test of new chemical therapeutic approaches on patients cells and study of physiopathological mechanisms in murine model
Institut du Cerveau et de la Moelle épiničre (ICM) - Hôpital Pitié-Salpętričre
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

ITALIEN
EMILIA ROMAGNA
BOLOGNA
Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

KANADA
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

KANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

NIEDERLANDE
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

NORWEGEN
Řstlandet
NESODDTANGEN
The Norwegian Adult Achondroplasia Study
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORWEGEN
Řstlandet
NESODDTANGEN
Physical form and acitivity habits in adults with achondroplasia
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORWEGEN
Řstlandet
NESODDTANGEN
Levels of activity and independence: a study of the interface of current health policy discourse and subjective realities
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORWEGEN
Řstlandet
OSLO
Knee stability in children with achondroplasia after gradual distalisation of the fibula head
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for medfřdte deformiteter i underekstrimiter hos barn

NORWEGEN
Řstlandet
OSLO
A feasibility study to inform an RCT to evaluate an online psychosocial intervention for young people with apperarance-altering conditions (YP Face it): a Norwegian pilot
Oslo Universitetssykehus HF, Rikshospitalet
SSD - Senter for sjeldne diagnoser

OSTERREICH
WIEN
ADDRESS: NOT PROVIDED - AT
ACHieve: A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia - AT
Institution: Information not provided - AT

SPANIEN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPANIEN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia

SPANIEN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

SPANIEN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética

SPANIEN
Cataluńa
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPANIEN
Comunidad Valenciana
SANT JOAN D'ALACANT
Novel therapeutic approaches in achondroplasia
Instituto de Neurociencias de Alicante (CSIC-UMH)
Grupo de Trabajo de Plasticidad Celular en Desarrollo y Enfermedad

SPANIEN
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

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
Clinical; pathophysiologic and therapeutic studies
Institution: Information not provided - US

VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
High-definition infrared micro-spectroscopic imaging of biomaterials
Institution: Information not provided - US
Multizentrische Forschungsprojekte
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Istituto Ortopedico Rizzoli - Ospedale
- Struttura Complessa Malattie Rare Scheletriche
- Newcastle upon Tyne Hospitals NHS Trust
- John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

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

ITALIEN
EMILIA ROMAGNA
BOLOGNA
Ma.Tr.OC: Identification of molecular therapeutic targets and diagnostic/prognostic biomarkers for Malignant Transformation of Osteochondromas

VEREINIGTES KONIGREICH
Tyne & Wear
NEWCASTLE UPON TYNE