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Financiado por un miembro del IRDiRC =
Registos y biobancos

ALEMANIA
Nordrhein-Westfalen
BONN
CURE Net: DNA biomaterial bank for the study of congenital uro-rectal marformations
Universitätsklinikum Bonn
Institut für Humangenetik

ALEMANIA
Rheinland-Pfalz
MAINZ
CURE-Net : National registry for congenital uro-rectal malformations
Universitätsmedizin Mainz
CURE-Net Register

FRANCIA
OCCITANIE
TOULOUSE
National cohort on congenital defects of the eye : natural history, genetic determinisms and improved ocular and extra-ocular outcome prediction for better patient management
CHU de Toulouse - Hôpital Purpan
Service de génétique médicale

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

BELGICA
ANTWERPEN
ANTWERPEN
Collection of FRA12A carrier DNA samples
University of Antwerp - UA
Medical Genetics Unit

COREA DEL SUR
KOREA, REPUBLIC OF
SEOUL
Korean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

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

ESPAÑA
Comunidad Valenciana
VALENCIA
CIBERER Biobank (Banco de muestras biológicas de enfermedades raras)
FISABIO
CIBERER BIOBANK

ESPAÑA
Madrid
MADRID
BioNER: Biobanco Nacional de Enfermedades Raras
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

ESPAÑA
País Vasco
BARAKALDO
Biobanco Vasco
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

ESTONIA
Tartu
TARTU
Biobank of the Estonian genome center
Tartu University Hospital
Centre of Genetics - United laboratories

FRANCIA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
International social network for data collection on the natural history of rare monogenic forms of intellectual disabilities
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCIA
ILE-DE-FRANCE
PARIS
National cohort for the evaluation of individual burden in the course of rare skin diseases
CHU Paris - Hôpital Necker-Enfants Malades
Centre MAGEC (MAladies rares Génétiques à Expression Cutanée)

ITALIA
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

ITALIA
LIGURIA
GENOVA
Telethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

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

REINO UNIDO (EL)
Cambridgeshire
CAMBRIDGE
UK10K RARE FIND - Familial Intellectual Disability variant database
Addenbrooke's Hospital
Level 6, Addenbrooke's Treatment Centre

REINO UNIDO (EL)
Cambridgeshire
CAMBRIDGE
UK10K RARE FIND - Familial Intellectual Disability variant database
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

ALEMANIA
Niedersachsen
GÖTTINGEN
ESNEK - Rare paediatric neurological disease registry Germany
Universitätsmedizin Göttingen
Geschäftsstelle der ESNEK

ALEMANIA
Nordrhein-Westfalen
MÜNSTER
Brain-Net - brain tissue bank Munster (pediatric neuropathology)
Institut für Neuropathologie der Medizinischen Fakultät Münster
Institut für Neuropathologie

ALEMANIA
Baden-Württemberg
TÜBINGEN
RetDis Database: blood or DNA samples of patients and families with inherited eye diseases
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

ALEMANIA
Baden-Württemberg
TÜBINGEN
RetDis Database: clinical descriptions of patients and families with inherited eye diseases
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

FINLANDIA
Finland
HELSINKI
The Finnish Register of Visual Impairment, Näkövammarekisteri
Finnish Federation of the Visually Impaired
Näkövammaisten liitto ry
Redes de registos y biobancos

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

ALEMANIA
Bayern
MÜNCHEN