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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

FRANCE

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSchwartz-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"

GERMANY

Hamburg
HAMBURG

Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease
AKK Altonaer Kinderkrankenhaus gGmbH
Fachabteilung für Kinderorthopädie

GERMANY

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

ITALY

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

NETHERLANDS

Gelderland
NIJMEGEN

Funded by an IRDiRC memberTREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

NORWAY

Østlandet
NESODDTANGEN

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

NORWAY

Østlandet
NESODDTANGEN

Fysisk form og aktivitetsvaner hos voksne med akondroplasi
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORWAY

Østlandet
NESODDTANGEN

NORWAY

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

NORWAY

Østlandet
OSLO

Oversettelse og pilotutprøving av online intervensjonsprogram for ungdom
Oslo Universitetssykehus HF, Rikshospitalet
SSD - Senter for sjeldne diagnoser

SPAIN

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

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification 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 STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical; pathophysiologic and therapeutic studies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects