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

Research projects

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

FRANCE

AUVERGNE-RHONE-ALPES
LYON

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

FRANCE

BRETAGNE
RENNES

Funded by an IRDiRC memberIdentification of genes involved in syndromic disorders of sex development
CHU de Rennes - Hôpital Pontchaillou
Service de Cytogénétique et Biologie Cellulaire

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

GERMANY

Schleswig-Holstein
LÜBECK

DSDCare: Standardized healthcare-center-centered care of DSD over the life span
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Hormonzentrum für Kinder und Jugendliche - Lübeck

SPAIN

Cataluña
SABADELL

SWEDEN

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)

SWITZERLAND

Suisse Romande
FRIBOURG

Understanding human sex development and its defects: novel approaches
Université de Fribourg
Département d'endocrinologie, métabolisme et système cardiovasculaire (EMC)

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAIN

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

SPAIN

Madrid
MADRID

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

Multicentric Research projects