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19 Result(s)

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Funded by an IRDiRC member =

Registries and Biobanks

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEIMD: European registry and network for intoxication type metabolic diseases
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberEIMD: European registry and network for intoxication type metabolic diseases
IRCCS Ospedale Pediatrico Bambino Gesù
U.O.C. di Patologia Metabolica

AUSTRIA

TIROL
INNSBRUCK

Austrian registry for inborn errors of metabolism
Medizinische Universität Innsbruck
Pädiatrie I

GERMANY

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases Database
Klinikum am Steinenberg
Klinik für Kinder- und Jugendmedizin

GERMANY

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases mutation Database
Klinikum am Steinenberg
Klinik für Kinder- und Jugendmedizin

NETHERLANDS

Noord-Holland
AMSTERDAM

Biobank Inherited Metabolic Disorders (blood/urine/liquor/fibroblasts)
AMC - Academisch Medisch Centrum
Afdeling Endocrinologie en Metabolisme

NETHERLANDS

Utrecht
UTRECHT

DDRMD - Dutch Diagnosis Registration Metabolic Diseases
UMC Utrecht - Universitair Medisch Centrum Utrecht
Afdeling Metabole Ziekten

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 center
Tartu University Hospital
Centre of Genetics - United laboratories

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

Comunidad Valenciana
VALENCIA

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

Networks of registries and biobanks

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberE-IMD : European registry and network for Intoxication type Metabolic Diseases
  • Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
  • Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
  • ITALY

    LIGURIA
    GENOVA

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