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Financiado por um membro do IRDiRC = Membro de uma ERN =
Projetos de investigação

FINLANDIA
Finland
HELSINKI
Modeling the mechanisms of pituitary hormone deficiency caused by two missense mutations in KCNQ1
University of Helsinki
Stem Cells and Metabolism Research Program

SUICA
Suisse Romande
LAUSANNE
The genetic basis of combined pituitary hormone deficiency and pituitary neoplasms
Hôtel des Patients Service d'endocrinologie, diabétologie et métabolisme - CHUV
Service d'Endocrinologie, diabétologie et métabolisme

CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

ESPANHA
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica

ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA
PAYS DE LA LOIRE
NANTES
FROGH : 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

JAPAO
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

JAPAO
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

JAPAO
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
Projetos de investigação multicêntricos
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica

CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

FRANCA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

FRANCA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health

ITALIA
LAZIO
ROMA