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Funded by an IRDiRC member =

Research projects

ITALY

CAMPANIA
NAPOLI

Molecular basis of oral-facial-digital type 1 syndrome
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALY

CAMPANIA
NAPOLI

EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Funded by an IRDiRC memberIdentification of new genes implicated in oral-facial-digital syndromes, in exome-negative patients
Université de Bourgogne
Génétique des Anomalies du développement

GERMANY

Berlin
BERLIN

Search and functional characterisation of genes in X-linked and autosomal recessive forms of mental retardation
Max-Planck-Institut für molekulare Genetik
Abteilung Human Molecular Genetics

SPAIN

País Vasco
BARAKALDO

SPAIN

Comunidad Valenciana
VALENCIA

TURKEY

TURKEY
ANKARA

CRANIRARE: an integrated clinical and scientific approach for craniofacial malformations (partner No. 5) - TR
Hacettepe University Faculty of Medicine
Chemical Engineering and Bioengineering Departments

TURKEY

TURKEY
ANKARA

TURKEY

TURKEY
ISTANBUL

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

ITALY

LAZIO
ROMA

GENESKIN: European network on rare genetic skin diseases (coordination)
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberWhole exome sequencing for the study of 30 children with developmental delay or moderate to severe
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional

ITALY

CAMPANIA
NAPOLI

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

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

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)

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

ESDN: European Skeletal Dysplasia Network (coordination)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

Multicentric Research projects