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

Funded by an IRDiRC member =

Research projects

FINLAND

Finland
HELSINKI

Molecular genetics of epilepsy syndromes
Folkhälsan
The Folkhälsan Institute of Genetics

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

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

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

SPAIN

País Vasco
BARAKALDO

UNITED KINGDOM

Lothian
EDINBURGH

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

Multicentric Research projects