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Cerca un registro/una biobanca

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34 Risultato/i

Ordinato per

Finanziato da un ente associato a IRDiRC =

Registri and biobanche

FRANCIA

OCCITANIE
MONTPELLIER

French cohort of Usher syndrome
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCIA

OCCITANIE
MONTPELLIER

USHbases (Usher syndrome) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Harmonin Gene (USH1C)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Usher Syndrome Type 3 Gene (CLRN1)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Cadherin-related Protein 23 Gene (CDH23)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Myosin VIIa Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Protocadherin 15 Gene (PCDH15)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Second Mitochondrial Serine tRNA Gene (MTTS2)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: USH2a Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

ITALIA

LIGURIA
GENOVA

Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche

PAESI BASSI

Gelderland
NIJMEGEN

RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

PAESI BASSI

Zuid-Holland
ROTTERDAM

RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Oogheelkunde

FRANCIA

ILE-DE-FRANCE
CLICHY

French patient registry affected by genetic deafness in France
CHU Paris Nord-Val de Seine - Hôpital Beaujon
Service d'oto-rhino-laryngologie

ITALIA

CALABRIA
CATANZARO

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

UK10K RARE CILIOPATHIES variant database
GOSH NHS Foundatin Trust
Molecular Medicine Unit

SPAGNA

Madrid
MADRID

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

FRANCIA

GRAND-EST
STRASBOURG

Finanziato da un ente associato a IRDiRCNational cohort on inherited retinal dystrophies
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale

FRANCIA

ILE-DE-FRANCE
PARIS

Cohort of patients with hereditary dystrophies of retina
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts

GERMANIA

Nordrhein-Westfalen
AACHEN

SPAGNA

Madrid
MADRID

Spanish patient registry of hereditary retinal dystrophy
Fundación Jiménez Díaz
Servicio de Genética Clínica

AUSTRIA

TIROL
INNSBRUCK

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

COREA DEL SUD

KOREA, REPUBLIC OF
SEOUL

Finanziato da un ente associato a IRDiRCKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

DANIMARCA

Sjćlland
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

ITALIA

LIGURIA
GENOVA

Biobanca di linee cellulari e di DNA da pazienti affetti da malattie genetiche
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIA

LIGURIA
GENOVA

Finanziato da un ente associato a IRDiRCRete delle biobanche genetiche Telethon
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

MAROCCO

Rabat
RABAT

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

SPAGNA

Madrid
MADRID

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

SPAGNA

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

SPAGNA

País Vasco
BARAKALDO

Finanziato da un ente associato a IRDiRCBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

FINLANDIA

Finland
HELSINKI

The Finnish Register of Visual Impairment, Näkövammarekisteri
Finnish Federation of the Visually Impaired
Näkövammaisten liitto ry

GERMANIA

Baden-Württemberg
TÜBINGEN

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

GERMANIA

Baden-Württemberg
TÜBINGEN

RetDis Database: clinical descriptions of patients and families with inherited eye diseases
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

Network di registri and biobanche

ITALIA

LIGURIA
GENOVA

Network di Biobanche Genetiche di Telethon
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Centro di diagnostica genetica e biochimica delle malattie metaboliche