Orphanet: Search by disease/gene
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29 Result(s)

Funded by an IRDiRC member =

Research projects

FINLAND

Finland
HELSINKI

Molecular genetics of epilepsy syndromes
Folkhälsan
The Folkhälsan Institute of Genetics

FRANCE

BRETAGNE
RENNES

Combined approach of transcriptome sequencing (RNA seq) and Exome for the improvement of the molecular diagnosis of holoprosencephaly
CHU de Rennes - Hôpital Pontchaillou
Laboratoire de génétique moléculaire et génomique médicale

FRANCE

PAYS DE LA LOIRE
NANTES

In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire

GERMANY

Berlin
BERLIN

Developmental Disturbances in the Nervous System (SFB 665): Molecular pathways in forebrain development and holoprosencephaly
Max-Delbrück-Centrum für Molekulare Medizin
Molekulare Herz- Kreislaufforschung

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

ITALY

LOMBARDIA
MILANO

Functional study of epileptogenic na+ channel mutations in transfected neurons and animal models
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Dipartimento di Neurofisiopatologia ed Epilettologia Diagnostica

PORTUGAL

SUL
LISBOA

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

SPAIN

Comunidad Valenciana
VALENCIA

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

UNITED KINGDOM

Antrim and Newtownabbey
NEWTOWNABBEY

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

Lothian
EDINBURGH

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

Multicentric Research projects