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Research projects
BELGIUM
OOST-VLAANDEREN
GENT
Characterisation of genes and molecular mechanisms involved in hereditary connective tissue diseases by studying transgenic animal models and human tissues
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent
FRANCE
ILE-DE-FRANCE
PARIS
Phenotype-genotype study in osteogenesis imperfecta, search for genetic variants involved in growth, bone resorption and fracture risk - COL1A genes diagnostic analysis validation
Hôpital Lariboisière
Os et Cartilages
GERMANY
Nordrhein-Westfalen
KÖLN
Sports injuries in children with osteogenesis imperfecta
Universitätsklinikum Köln
Klinik für Orthopädie und Unfallchirurgie
SPAIN
País Vasco
BARAKALDO
Implementation of democratized and effective advanced therapies for Osteogenesis Imperfecta
Instituto de Investigación sanitaria Biocruces Bizkaia
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Collagen-related diseases
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Components and kinetics in exocytosis
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Developmental studies in the skeletal dysplasias
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Genetic bone disorders-autosomal recessive oi
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Molecular studies in the skeletal dysplasias
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 1. proly 3-hydroxylase (p3h) complex and matrix cell signaling defects in
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 1: the role of wnt1 signaling in osteogenesis imperfecta
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 2. fkbp10 chaperone complex and trafficking and organelle dysfunction in
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 2: the role of the hsp47/fkbp65 chaperone complex in osteogenesis imperfecta
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 3: collagen post-translational modification and cross-linking in oi
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 3. collagen post-translational modification and crosslinking in human an
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Heritable disorders of connective tissue
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
he LRP5 Pathway and Osteoblast Function In Osteogenesis Imperfecta
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
PROJECT 1: LONGITUDINAL STUDIES
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Craniofacial Anomalies and Regeneration
Institution: Information not provided - US
NORWAY
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
The function of fkbp10 in osteogenesis imperfecta and bruck syndrome
Institution: Information not provided - US
CANADA
Ontario
OTTAWA, ONTARIO
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)
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
GERMANY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
SPAIN
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
SPAIN
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
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
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
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
SPAIN
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
SPAIN
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
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
Multicentric Research projects
- 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
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases
GERMANY
Sachsen-Anhalt
MAGDEBURG