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Progetti di ricerca
CANADA
Ontario
OTTAWA, ONTARIO
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
ACHieve: A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia - AT
Institution: Information not provided - AT
CANADA
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
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCIA
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 Système et d'Organe
FRANCIA
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 épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
GERMANIA
Hamburg
HAMBURG
Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease
AKK Altonaer Kinderkrankenhaus gGmbH
Fachabteilung für Kinderorthopädie
GERMANIA
Schleswig-Holstein
LÜBECK
Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Orthopädie und Unfallchirurgie - Sektion für Orthopädie
ITALIA
EMILIA ROMAGNA
BOLOGNA
Analisi di mutazione di geni EXT e profilo di espressione in famiglie italiane affette da esostosi multiple ereditarie (EXT) e patologie e sindromi correlate
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
NORVEGIA
Østlandet
NESODDTANGEN
The Norwegian Adult Achondroplasia Study
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
NORVEGIA
Østlandet
NESODDTANGEN
Physical form and acitivity habits in adults with achondroplasia
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
NORVEGIA
Østlandet
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
NORVEGIA
Østlandet
OSLO
Knee stability in children with achondroplasia after gradual distalisation of the fibula head
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for medfødte deformiteter i underekstrimiter hos barn
NORVEGIA
Østlandet
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
PAESI BASSI
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
SPAGNA
Cataluña
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
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAGNA
Cataluña
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
SPAGNA
Cataluña
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
SPAGNA
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
SPAGNA
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
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Clinical; pathophysiologic and therapeutic studies
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
High-definition infrared micro-spectroscopic imaging of biomaterials
Institution: Information not provided - US
Progetti di ricerca multicentrici
- 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
GERMANIA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITALIA
EMILIA ROMAGNA
BOLOGNA
Ma.Tr.OC: Identification of molecular therapeutic targets and diagnostic/prognostic biomarkers for Malignant Transformation of Osteochondromas
REGNO UNITO; GRAN BRETAGNA
Tyne & Wear
NEWCASTLE UPON TYNE