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Progetti di ricerca

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

FRANCIA

ILE-DE-FRANCE
VILLEJUIF

Finanziato da un ente associato a IRDiRCTransition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe Epidémiologie des radiations, épidémiologie clinique des cancers et survie

GERMANIA

Rheinland-Pfalz
MAINZ

Risk factors for congenital anorectal malformations
Universitätsmedizin Mainz
CURE-Net Register

GERMANIA

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

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

SPAGNA

Madrid
MADRID

Genetic characterization of aniridia in Spain through genomic and experimental studies
Fundación Jiménez Díaz
Área de Genética y Genómica

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

Baden-Württemberg
TÜBINGEN

Genetics and pathophysiology of glaucoma
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

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

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