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Funded by an IRDiRC member = Member of a ERN =

Research projects

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Québec
SHERBROOKE

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

NORWAY

Østlandet
OSLO

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe physiology of adrenal insufficiency
Institution: Information not provided - US

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberModeling the mechanisms of pituitary hormone deficiency caused by two missense mutations in KCNQ1
University of Helsinki
Stem Cells and Metabolism Research Program

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

SPAIN

Madrid
MADRID

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberEvaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

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
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

SWITZERLAND

Suisse Romande
LAUSANNE

The genetic basis of combined pituitary hormone deficiency and pituitary neoplasms
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme

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