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Funded by an IRDiRC member =

Research projects

GERMANY

Hamburg
HAMBURG

Genotype-phenotype correlation of patients with WT1 gene mutation
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Baden-Württemberg
HEIDELBERG

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

GERMANY

Niedersachsen
HANNOVER

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANY

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberGenomic study of early-onset nephropathies
Fundació Puigvert
Laboratorio de Biología Molecular

SPAIN

Madrid
MADRID

SPAIN

Madrid
MADRID

Genetic characterization of aniridia in Spain through genomic and experimental studies
Fundación Jiménez Díaz
Área de Genética y Genómica

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
Addenbrooke's Hospital
Academic Department of Medical Genetics

UNITED STATES

California
BERKELEY

Funded by an IRDiRC memberZebrafish model of human corneal development and disease
University Of California Berkeley
Ophthalmology

GERMANY

Baden-Württemberg
TÜBINGEN

Genetics and pathophysiology of glaucoma
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

NETHERLANDS

Gelderland
NIJMEGEN

EUNEFRON: rare disorders of the collecting dust (WP5)
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

UNITED KINGDOM

Devon
EXETER

Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

UNITED KINGDOM

Glasgow
GLASGOW

Funded by an IRDiRC memberThe International DSD Network (I-DSD)
University of Glasgow, Kelvin Building
College of Medical, Veterinary & Life Sciences

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberThe role of non-coding RNAs in mammalian eye development and function
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

SWITZERLAND

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

GERMANY

Thüringen
JENA

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberEarly preganncy loss: genetic causes and recurrence risk
Hospital Clínic de Barcelona
Instituto Clínic de Ginecología, Obstetricia y Neonatología

SWEDEN

Stockholms läns landsting
STOCKHOLM

Chromosomal anomaly
Karolinska Universitetsjukhuset - Klinisk Genetik
Clinical Genetics (Klinisk genetik)

Multicentric Research projects