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27 Result(s)

Funded by an IRDiRC member =

Research projects

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

FRANCE

PAYS DE LA LOIRE
ANGERS

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

Thüringen
JENA

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

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

SPAIN

Comunidad Valenciana
VALENCIA

SPAIN

Madrid
CANTOBLANCO

Molecular basis of immunodeficiency in Wolf-Hirschhorn Syndrome (4p-)
CBMSO - Centro de Biología Molecular Severo Ochoa
Departamento de Biología Celular e Inmunología

SPAIN

Madrid
CANTOBLANCO

Contribution of Epigenetic Alterations to Wolf-Hirschhorn Syndrome
CBMSO - Centro de Biología Molecular Severo Ochoa
Departamento de Biología Celular e Inmunología

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

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

SWITZERLAND

Suisse Alémanique
BASEL

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

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