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Funded by an IRDiRC member =

Research projects

GERMANY

Sachsen
DRESDEN

Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome and other actinopathies
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Identification of novel autosomal genes causing mental retardation
Universität Zürich
Institut für Medizinische Genetik

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberEDD-GENOPATH: Epileptogenic Developmental Disorders: Integrated approach to improve diagnosis and understanding of pathophysiological mechanisms
Institut Cochin - Faculté de Médecine de Paris Descartes
Génétique et physiopathologie de maladies neurodéveloppementales et neuromusculaires

ITALY

LOMBARDIA
MILANO

Structural and functional bases of Lissencephaly
Istituto Europeo di Oncologia
Laboratorio di Emato-Oncologia Clinica

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

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

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

SPAIN

Madrid
MADRID

Multicentric Research projects