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Progetti di ricerca

FRANCIA

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

SPAGNA

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular mechanisms underlying Zic2-associated holoprosencephaly
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetics of brain development
Institution: Information not provided - US

FRANCIA

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

FRANCIA

PAYS DE LA LOIRE
ANGERS

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCPrimary Prevention and Surveillance of Congenital Anomalies
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

PORTOGALLO

SUL
LISBOA

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCThe physiology of adrenal insufficiency
Institution: Information not provided - US

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a IRDiRCModeling the mechanisms of pituitary hormone deficiency caused by two missense mutations in KCNQ1
University of Helsinki
Stem Cells and Metabolism Research Program

GERMANIA

Sachsen-Anhalt
MAGDEBURG

Finanziato da un ente associato a IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

SPAGNA

Madrid
MADRID

SVIZZERA

Suisse Alémanique
BASEL

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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCIA

PAYS DE LA LOIRE
NANTES

Finanziato da un ente associato a IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCProgramma Telethon per le malattie senza diagnosi
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

Progetti di ricerca multicentrici