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19 Result(s)

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Funded by an IRDiRC member =

Registries and Biobanks

NETHERLANDS

Limburg
MAASTRICHT

Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
AZM - Academisch Ziekenhuis Maastricht
Afdeling Klinische Genetica

NETHERLANDS

Limburg
MAASTRICHT

Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
AZM - Academisch Ziekenhuis Maastricht
Biobank Klinische Genetica Maastricht

UNITED KINGDOM

Greater Manchester
MANCHESTER

DYSCERNE's dysmorphology diagnostic system (DDS)
St Mary's Hospital
Manchester Cente for Genomic Medicine

ITALY

CALABRIA
CATANZARO

SPAIN

Madrid
MADRID

ECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations
ISCIII - Instituto de Salud Carlos III
Centro de Investigación sobre Anomalías Congénitas

AUSTRIA

TIROL
INNSBRUCK

Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

DENMARK

Sjælland
COPENHAGEN

Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine

ESTONIA

Tartu
TARTU

Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre

ITALY

LIGURIA
GENOVA

Cell line and DNA Biobank from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALY

LIGURIA
GENOVA

Funded by an IRDiRC memberTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
SEOUL

Funded by an IRDiRC memberKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

MOROCCO

Rabat
RABAT

Moroccan National Genetic Database
Institut National d'Hygiène
Département de génétique médicale

SPAIN

Madrid
MADRID

CIBERER Biobank (Biobank of rare diseases)
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

BioNER: Biobank of the Institute of Rare Diseases Research/Institute of Health Carlos III
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

SPAIN

País Vasco
BARAKALDO

Funded by an IRDiRC memberBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

GERMANY

Thüringen
JENA

Small supernumerary marker chromosomes (sSMC) registry
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik

NETHERLANDS

Gelderland
NIJMEGEN

ECARUCA: cytogenetic and clinical database on rare chromosomal disorders
Radboudumc - Radboud universitair medisch centrum
Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen

Networks of registries and biobanks

ITALY

LIGURIA
GENOVA

TELETHON NETWORK OF GENETIC BIOBANKS
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Centro di diagnostica genetica e biochimica delle malattie metaboliche
  • UNITED KINGDOM

    Wiltshire
    SALISBURY

    ECARUCA: European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
  • Salisbury District Hospital
  • National Genetics Reference Laboratory - Wessex