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196 Resultado(s)
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Registos e biobancos
ALEMANHA
Baden-Württemberg
HEIDELBERG
EIMD: 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
ALEMANHA
Berlin
BERLIN
SSFA-database: Sequence-Structure-Function-Analysis of Glycoprotein Hormone Receptors
Leibniz-Institut für Molekulare Pharmakologie
Structural Bioinformatics and Protein Design
ALEMANHA
Hamburg
HAMBURG
Registry for Patients with WT1 Mutation Associated Diseases
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ALEMANHA
Hamburg
HAMBURG
Fabry Disease Registry -DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ALEMANHA
Hessen
GIEßEN
Mutation Database Retina International: Bardet-Biedl syndrome 2 (BBS2)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
ALEMANHA
Hessen
GIEßEN
Mutation Database Retina International: McKusick-Kaufman Gene (MKKS)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
ALEMANHA
Hessen
GIEßEN
Mutation Database Retina International: Bardet-Biedl Syndrome Type 4 Gene (BBS4)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
ALEMANHA
Hessen
GIEßEN
Mutation Database Retina International: Bardet-Biedl Syndrome Type 1 Gene (BBS1)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
ALEMANHA
Hessen
GIEßEN
Mutation Database Retina International: Bardet-Biedl Syndrome Type 7 Gene (BBS7)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
ALEMANHA
Mecklenburg-Vorpommern
ROSTOCK
ALEMANHA
Niedersachsen
HANNOVER
ARegPKD Biobanking - biobank for autosomal recessive polycystic kidney disease
CRC Hannover
Hannover Unified Biobank (HUB)
ALEMANHA
Niedersachsen
HANNOVER
German Fanconi anemia registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie
ALEMANHA
Nordrhein-Westfalen
AACHEN
Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)
Universitätsklinikum Aachen
Institut für Humangenetik
ALEMANHA
Nordrhein-Westfalen
BONN
Patient registry for primary hyperoxaluria - contributes to the OxalEurope-Network
Kindernierenzentrum Bonn
ALEMANHA
Nordrhein-Westfalen
KÖLN
ARegPKD - International Registry Study on Autosomal Recessive Polycystic Kidney Disease
Universitätsklinikum Köln
Pädiatrische Nephrologie, Immunologie und Hypertensiologie
ALEMANHA
Nordrhein-Westfalen
MÜNSTER
Nephronophthisis registry for patients in germany, austria and switzerland
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche
ALEMANHA
Nordrhein-Westfalen
MÜNSTER
Nephronophthisis registry for patients in germany, austria and switzerland
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: registry of the European network for the study of orphan nephropathies
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology
BELGICA
OOST-VLAANDEREN
GENT
I-DSD: International Disorders of Sex Development registry - Flanders contribution (Ghent university hospital)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team]
DINAMARCA
Hovedstaden
COPENHAGEN
Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics
ESPANHA
Andalucía
SEVILLA
Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Dirección General de Calidad, Investigación y Gestión del Conocimiento
ESPANHA
Aragón
ZARAGOZA
Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria
ESPANHA
Asturias
OVIEDO
RenalTube: Database of patients with primary tubulopathies
Hospital Universitario Central de Asturias
Servicio de Pediatría
ESPANHA
Baleares
PALMA DE MALLORCA
Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Servicio de Epidemiología
ESPANHA
Baleares
PALMA DE MALLORCA
Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Dirección General de Salud Pública y Consumo
ESPANHA
Cantabria
SANTANDER
Population registry of rare diseases and congenital anomalies of Cantabria (Spain)
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria
ESPANHA
Castilla - León
SALAMANCA
National DNA Bank: Rare diseases sample collection
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN
ESPANHA
Cataluña
BELLATERRA
DNA repair biobank
Universitat Autònoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
REWBA: Spanish Registry of Wolfram, Bardet-Biedl and Alstrom syndromes
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Genética molecular humana
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Genética molecular humana
ESPANHA
Comunidad Valenciana
VALENCIA
SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras
ESPANHA
Extremadura
MÉRIDA
Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología
ESPANHA
Galicia
SANTIAGO DE COMPOSTELA
RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial
ESPANHA
Galicia
VIGO
REWBA: Spanish Registry of Wolfram, Bardet-Biedl and Alstrom syndromes
Universidade de Vigo
Departamento de Bioquímica, Genética e Inmunología
ESPANHA
Madrid
MADRID
Spanish Registry of Patients with Fanconi Anemia
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético
ESPANHA
Madrid
MADRID
SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Subdirección de Promoción y Prevención de la Salud
Subdirección de Promoción y Prevención de la Salud
ESPANHA
Madrid
MADRID
ERN [TRANSPLANT-CHILD] - PETER: PaEdiatric Transplantation European Registry
Hospital Universitario La Paz
Servicio de Hepatología infantil
ESPANHA
Madrid
MADRID
ReeR: Spanish National Registry of Rare Diseases
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
ESPANHA
Murcia
MURCIA
SIERrm: Information System on rare diseases in the Region of Murcia (Spain)
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria
ESPANHA
Navarra
PAMPLONA
Population registry of rare diseases of Navarra (Spain)
Instituto de Salud Pública y Laboral de Navarra
Sección de Epidemiología de Enfermedades No Transmisibles
ESTADOS UNIDOS
Massachusetts
CAMBRIDGE
FOS : Fabry Outcome Survey
Shire Human Genetics Therapies, Inc.
ESTADOS UNIDOS
Minnesota
ROCHESTER
International registry for primary hyperoxaluria
Mayo Clinic
Department of Medical Genetics
ESTADOS UNIDOS
New York
NEW YORK
IFAR: International Fanconi Anemia patient Registry
The Rockefeller University
Laboratory of Genome Maintenance
ESTONIA
Tartu
TARTU
Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contribuiting to EURO-WABB
Children's Clinic - Tartu University Hospital
Department of Paediatrics
FINLANDIA
Finland
TURKU
Finnish patient registry on Fabry disease - contributing to the international Fabry registry and Shire registry
Turku University Hospital
Division of Medicine AC2
FRANCA
GRAND-EST
STRASBOURG
RaDiCo-COBBALT: National cohort on Bardet-Bield syndrome and Alström syndrome
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale
FRANCA
GRAND-EST
VANDOEUVRE-LÈS-NANCY
National registry of children solid tumors
Faculté de médecine de Nancy
Registre national des tumeurs solides de l'enfant
FRANCA
PROVENCE-ALPES-COTE D'AZUR
NICE
French Disease Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributes to EURO-WABB
CHU de Nice - Hôpital l'Archet 2
Service de génétique
HUNGRIA
Dél-Dunántúl
PECS
Tuberous sclerosis biobank
Clinical Center - University of Pécs
Department of Medical Genetics
ITALIA
CAMPANIA
NAPOLI
RIAF: Fanconi's Anemia Italian Registry
P.S.I. "Elena d'Aosta"
U.O.C. Servizio di Genetica
ITALIA
LIGURIA
GENOVA
Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche
ITALIA
LOMBARDIA
MILANO
TTP: International registry on thrombotic thrombocytopenic purpura
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio di Patologie Molecolari Applicate alla Clinica
ITALIA
LOMBARDIA
RANICA
International registry of recurrent and familial hemolytic uremic syndrome/thrombotic thrombocytopenic purpura
Istituto di Ricerche Farmacologiche Mario Negri
Centro di Ricerche Cliniche per le Malattie Rare
ITALIA
TOSCANA
FIRENZE
Italian registry of hypertrophic cardiomyopathy in Anderson-Fabry disease
AOU Careggi
Dipartimento Cuore e Vasi - Cardiologia generale 1
ITALIA
TOSCANA
FIRENZE
Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica
ITALIA
VENETO
PADOVA
Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributing to EURO-WABB
Azienda Ospedaliera di Padova
Laboratorio Endocrino Metabolico - Clinica Medica 3
ITALIA
VENETO
PADOVA
North-east Italy registry of neurofibromatosis
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica
PAISES BAIXOS
Gelderland
NIJMEGEN
ERN [GENTURIS] - GENTURIS registry: The ERN Genetic Tumour Risk Syndromes Registry
Radboudumc - Radboud universitair medisch centrum
Sectie Klinische Genetica
PAISES BAIXOS
Gelderland
NIJMEGEN
AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie
PAISES BAIXOS
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie
PAISES BAIXOS
Gelderland
NIJMEGEN
AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence
PAISES BAIXOS
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Dutch patient registry for Fabry disease
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten
PAISES BAIXOS
Noord-Holland
NAARDEN
Finnish patient registry on Fabry disease - contributing to the international Fabry registry and Shire registry
Genzyme Europe B.V.
PAISES BAIXOS
Zuid-Holland
ROTTERDAM
ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen
POLONIA
Lodz
LODZ
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Pracownia Immunopatologii I Genetyki - Laboratory of Immunopathology and Genetics
POLONIA
Lodz
LODZ
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Departament of Pediatrics, Oncology, Hematology and Diabetology
PORTUGAL
NORTE
PORTO
Registo de doentes portugueses com a doença de Fabry - contribui para o registro internacional da doença de Fabry
Centro Hospitalar de S. João, EPE
Departamento de Genética
REINO UNIDO
Cambridgeshire
CAMBRIDGE
The Alström Syndrome UK (ASUK) Tissue Bank
Addenbrooke's Hospital
University of Cambridge Metabolic Research Laboratories
REINO UNIDO
East Sussex
BRIGHTON
TuberOus SClerosis registry to increase disease Awareness (TOSCA)
Royal Sussex County Hospital
Sussex Kidney Unit
REINO UNIDO
Glasgow
GLASGOW
I-DSD: International Disorders of Sex Development registry - GB
Royal Hospital For Children, NHS Greater Glasgow & Clyde
Child Health, School of Medicine
REINO UNIDO
Greater London
LONDON
UK Thrombotic Thrombocytopenia Purpura (UKTTP) Registry
UCL University College London, Bloomsbury Campus
Haemostasis Research Unit
REINO UNIDO
North Yorkshire
YORK
UK & Ireland Fanconi Anaemia Registry
The University of York
Epidemiology and Genetics Unit
REINO UNIDO
West Midlands
BIRMINGHAM
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - UK
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
SUECIA
Region Stockholm
DANDERYD
Finnish patient registry on Fabry disease - contributing to the international Fabry registry and Shire registry
Shire Human Genetic Therapies AB
SUICA
Suisse Alémanique
BERN
Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)
ALEMANHA
Hamburg
HAMBURG
Hamburg Glomerulonephritis Registry (subproject SFB 1192: Immune-Mediated Glomerular Diseases - Basic Concepts and Clinical Implications)
UKE - Universitätsklinikum Hamburg-Eppendorf
III. Medizinische Klinik und Poliklinik
ALEMANHA
Hessen
GIEßEN
Mutation Database Retina International: Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde
ALEMANHA
Nordrhein-Westfalen
BONN
Germany patient registry for membranoproliferative glomerulonephritis
Kindernierenzentrum Bonn
ALEMANHA
Rheinland-Pfalz
MAINZ
Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell
ALEMANHA
Sachsen
DRESDEN
Registry for C3 Glomerulopathy and Immune complex-mediated MPGN
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Medizinische Klinik und Poliklinik III - Nephrologie
ALEMANHA
Sachsen
LEIPZIG
TSH receptor mutation database
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
AUSTRIA
STEIERMARK
GRAZ
Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen
AUSTRIA
WIEN
WIEN
Upshaw-Schulman-Syndrome registry
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Hämatologie und Hämostaseologie
AUSTRIA
WIEN
WIEN
International aHUS registry
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Hämatologie und Hämostaseologie
BELGICA
ANTWERPEN
ANTWERPEN
Antwerpen registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen
BELGICA
HAINAUT
GOSSELIES
Hainaut and Namur registry of congenital anomalies - contributes to the EUROCAT network
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)
DINAMARCA
Syddanmark
ODENSE
Funen county registry of congenital anomalies - contributes to the EUROCAT network
University of Southern Denmark
Epidemiology department
ESPANHA
Asturias
OVIEDO
Registro MEN: Spanish registry of multiple endocrine neoplasia, pheochromocitomas and paragangliomas
Hospital Universitario Central de Asturias
Servicio de Endocrinología y Nutrición
ESPANHA
Madrid
MADRID
aHUS/C3G: Atypical Hemolytic Uremic Syndrome (aHUS) and C3 Glomerulopathy (C3G) Database
Centro de Investigaciones Biológicas (CSIC)
Departamento de Medicina Celular y Molecular
ESPANHA
País Vasco
VITORIA-GASTEIZ
RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Gobierno Vasco. Departamento de Salud
ESTADOS UNIDOS
New York
NEW YORK
International Rare Genetic Steroid Disorders Consortium (RGSDC) registry
The Mount Sinai School of Medicine
Department of pediatric endocrinology
FINLANDIA
Finland
HELSINKI
Register of Congenital Malformations
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)
FRANCA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
The global aHUS Registry
Institution: Information not provided - FR
FRANCA
AUVERGNE-RHONE-ALPES
BRON
French registry of rare genetic metabolism disorders of steroids - contributing to the international RGSDC registry
CHU de Lyon HCL - GH Est
Service de pathologies endocriniennes rénales, musculaires et mucoviscidose
FRANCA
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
Auvergne registry of congenital anomalies - contributes to the EUROCAT network
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale
FRANCA
AUVERGNE-RHONE-ALPES
LYON
Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network
Registre des Malformations en Rhône Alpes
Registre des Malformations en Rhône Alpes REMERA
FRANCA
BRETAGNE
RENNES
Bretagne registry of congenital anomalies - contributes to the EUROCAT network
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes
FRANCA
CENTRE-VAL DE LOIRE
TOURS
NF-France: genotype/phenotype database on neurofibromatosis 1
CHRU de Tours - Hôpital Clocheville
Pôle Enfants - Neuropédiatrie et handicaps
FRANCA
ILE-DE-FRANCE
CRÉTEIL
NF-France: genotype/phenotype database on neurofibromatosis 1
CHU Henri Mondor
Service de dermatologie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
RaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant
FRANCA
ILE-DE-FRANCE
PARIS
Paris registry of congenital anomalies - contributes to the EUROCAT network
APHP - HUPC - Site Cochin
Equipe EPOPé
FRANCA
ILE-DE-FRANCE
PARIS
RaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service Explorations fonctionnelles Endocriniennes
FRANCA
ILE-DE-FRANCE
PARIS
French Registry of Atypical Hemolytic Uremic Syndrome (aHUS) in Children
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Laboratoire d'Immunologie biologique
FRANCA
OCCITANIE
TOULOUSE
RaDiCo-AC-OEIL: 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
FRANCA
OUTRE-MER
FORT DE FRANCE
French West Indies registry of congenital anomalies - contributes to the EUROCAT network
CHU de Martinique - Maison de la Femme, de la Mère et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDP)
FRANCA
OUTRE-MER
SAINT-PIERRE
La Réunion Fench Island registry of congenital anomalies - contributes to the EUROCAT network
CHU de la Réunion - GH Sud Réunion - Saint-Pierre
Service de Génétique Médicale
FRANCA
PAYS DE LA LOIRE
ANGERS
PXE Biobank (Plasma, serum, DNA, skin fibroblasts)
CHU d'Angers
Service de dermatologie et vénéréologie
HUNGRIA
Dél-Dunántúl
PECS
Neurofibromatosis type 1 biobank
Clinical Center - University of Pécs
Department of Medical Genetics
IRLANDA
County Cork
CORK
South of Ireland registry of congenital anomalies - contributes to the EUROCAT network
St. Finbarr's Hospital
Department of Public Health
IRLANDA
County Dublin
DUBLIN
Irish Registry for homocystinurias and methylation defects - contributes to E-HOD
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders
IRLANDA
County Dublin
DUBLIN
Dublin registry of congenital anomalies - contributes to the EUROCAT network
Dr. Steeven's Hospital
HSE Registry of Congenital Anomalies (East)
IRLANDA
County Dublin
DUBLIN
National Haemophilia Register - Ireland
St James's Hospital
National Centre for Hereditary Coagulation Disorders Registry
IRLANDA
County Kilkenny
KILKENNY
South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT network
Health Service Executive South SE
South East of Ireland registry of congenital anomalies
ITALIA
CAMPANIA
BENEVENTO
Campania registry of congenital anomalies - contributes to the EUROCAT network
A.O.R.N. "Gaetano Rummo"
U.O.C. di Genetica Medica
ITALIA
EMILIA ROMAGNA
MODENA
Italian registry of patients and families affected by Pseudoxanthoma Elasticum
Università degli Studi di Modena e Reggio Emilia
LabGen - Laboratorio Sequenziamento Genomico
ITALIA
LOMBARDIA
RANICA
Italian Registry of membranoproliferative glomerulonephritis
Istituto di Ricerche Farmacologiche Mario Negri
Centro di Ricerche Cliniche per le Malattie Rare
ITALIA
PUGLIA
SAN GIOVANNI ROTONDO
Genetic Biobank from patients with Williams-Beuren syndrome and other genomic disorders
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica
ITALIA
SICILIA
CATANIA
ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT network
ASMAC
Associazione per la Prevenzione Sociale e per il Trattamento delle Malformazioni Congenite
ITALIA
TOSCANA
PISA
Tuscan Registry of Congenital Anomalies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia
ITALIA
VENETO
PADOVA
North-East of Italy registry of congenital anomalies - contributes to the EUROCAT network
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica
MALTA
MALTA
G'MANGIA
MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT
Ministry for Health
Directorate of Health Information and Research
PAISES BAIXOS
Groningen
GRONINGEN
EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
PAISES BAIXOS
Noord-Holland
AMSTERDAM
E-HOD - European network and registry for homocystinurias and methylation defects (contributes to U-IMD)
Amsterdam UMC, locatie VUmc
Afdeling Interne Geneeskunde
POLONIA
Poznan
POZNAN
PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
Zaklad Genetyki Medycznej
PORTUGAL
SUL
LISBOA
RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia
REINO UNIDO
Greater Manchester
MANCHESTER
CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and pathway biomarkers in Noonan syndrome and other RASopathy patients - UK
St Mary's Hospital
Manchester Cente for Genomic Medicine
REINO UNIDO
Hampshire
SOUTHAMPTON
WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and EUROCAT network
Princess Anne Hospital
Paediatric Endocrinology and the Wessex Clinical Genetics Service
SUICA
Suisse Alémanique
BASEL
SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Cardiology Department
SUICA
Suisse Alémanique
BERN
Hereditary TTP Registry
University Hospital Inselspital
Department of Hematology and Central Hematology Laboratory
SUICA
Suisse Romande
LAUSANNE
EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mère-Enfant - Maternité
TURQUIA
TURKEY
ANKARA
Turkish pediatric atypical hemolytic uremic syndrome registry
Hacettepe University Faculty of Medicine
Department of Pediatrics Nephrology and Rheumatology
ALEMANHA
Baden-Württemberg
TÜBINGEN
National MRKH patient registry
Universitäts-Frauenklinik Tübingen
Frauenklinik
ALEMANHA
Niedersachsen
GÖTTINGEN
European Alport registry
Universitätsmedizin Göttingen
ZSEG - Zentrum für seltene Erkrankungen Göttingen
ALEMANHA
Nordrhein-Westfalen
KÖLN
The FOrMe Registry : The German Focal Segmental Glomerulosclerosis and Minimal Change Disease Registry
Universitätsklinikum Köln
Klinik II für Innere Medizin - Nephrologie, Rheumatologie, Diabetologie und allgemeine Innere Medizin
ALEMANHA
Nordrhein-Westfalen
MÜNSTER
HUSEC reference strain collection
Universität Münster
Konsiliarlabor für Hämolytisch-Urämisches Syndrom (HUS)
CANADA
Colombie-Britannique
VANCOUVER
Glomerulonephritis Registry
Centre for Health Evaluation and Outcome Sciences (CHEOS)
Department of Nephrology
FRANCA
ILE-DE-FRANCE
PARIS
RaDiCo-EURBIO-Alport: Study of the natural history of Alport Syndrome by establishment of an international database
Hôpital Necker-Enfants Malades
Service de Néphrologie-Dialyse Adulte
FRANCA
ILE-DE-FRANCE
PARIS
RaDiCo-EURBIO-Alport: Study of the natural history of Alport Syndrome by establishment of an international database
Hôpital Necker-Enfants Malades
Service de néphrologie pédiatrique
FRANCA
OCCITANIE
MONTPELLIER
Cohorte française de patients atteints de mucoviscidose et cohorte CFTR-RD
Institut Universitaire de Recherche Clinique EA 7402 Université de Montpellier
Laboratoire de Génétique de Maladies Rares
ITALIA
LAZIO
ROMA
Italian registry of hemolytic uremic syndrome
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
LOMBARDIA
PAVIA
Italian registry for MYH9-related thrombocytopenia
Fondazione IRCCS Policlinico San Matteo
Clinica Medica III
ITALIA
TOSCANA
SIENA
Italian registry of Alport syndrome
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica
PAISES BAIXOS
Gelderland
NIJMEGEN
Membranous Nephropathy Registry
Radboudumc - Radboud universitair medisch centrum
Afdeling Nierziekten
SUECIA
Region Skåne
LUND
C3base: Mutation registry for C3 deficiency
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)
Lund University
Department of Experimental Medical Science
SUECIA
Region Skåne
LUND
SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia
Lund University
Department of Experimental Medical Science
ALEMANHA
Baden-Württemberg
HEIDELBERG
PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
ALEMANHA
Bayern
MÜNCHEN
MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
ALEMANHA
Hessen
GIEßEN
Giessen PNEUMObank
Med. Klinik und Poliklinik II des UKGM am Standort Gießen
Schwerpunkt Pneumologie und Intensivmedizin - Fibrosierende Lungenerkrankungen
ALEMANHA
Nordrhein-Westfalen
KÖLN
Patient registry of the German Network for Systemic Scleroderma
Universitätsklinikum Köln
Koordinierungszentrale des DNSS
ALEMANHA
Sachsen-Anhalt
DESSAU
German registry for Morbus Adamantiades-Behçet e.V.
Städtisches Klinikum Dessau
Deutsches Register Morbus Adamantiades-Behçet e.V.
ALEMANHA
Schleswig-Holstein
KIEL
POPGEN biobank
Christian-Albrechts-Universität zu Kiel -UKSH
Institut für Epidemiologie
AUSTRIA
TIROL
INNSBRUCK
Innsbruck registry for Adamantiades-Behcet disease: Retrospective and prospective data collection
Medizinische Universität Innsbruck
Universitätsklinik für Innere Medizin II
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
The Belgian Systemic Sclerosis Cohort - BSSC
Cliniques universitaires Saint-Luc - UCLouvain
Service de rhumatologie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Establishment of children and adolescents cohort in Behcet disease in France
CHU Paris-Sud - Hôpital de Bicêtre
Service de Rhumatologie pédiatrique
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
DNA bank for child's Behcet disease in France
CHU Paris-Sud - Hôpital de Bicêtre
Service de Rhumatologie pédiatrique
FRANCA
ILE-DE-FRANCE
PARIS
RaDiCo-ACOSTILL: National cohort on adult and childhood onset Still disease
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Service de rhumatologie
FRANCA
ILE-DE-FRANCE
PARIS
Registry for Patients with Digital Ulcers Associated with Systemic Sclerosis (DU/SSc)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
MATHEC - Maladies Auto-Immunes et Thérapie Cellulaire
FRANCA
ILE-DE-FRANCE
PARIS
European Society for Blood and Marrow Transplant Society Registry (EBMT registry)
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
MATHEC - Maladies Auto-Immunes et Thérapie Cellulaire
FRANCA
ILE-DE-FRANCE
PARIS
Biological collection in sarcoidosis in France
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service de pneumologie
FRANCA
ILE-DE-FRANCE
PARIS
French atypical sarcoïdosis clinical forms registry
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service de pneumologie
FRANCA
ILE-DE-FRANCE
PARIS
RaDiCo-ACOSTILL: National cohort on adult and childhood onset Still disease
Groupe hospitalier AP-HP.6 - Hôpital Tenon
Service de médecine interne
FRANCA
ILE-DE-FRANCE
PARIS
ITALIA
LAZIO
ROMA
FMF: Italian registry for familial mediterranean fever in the young
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Sezione Pediatrica
ITALIA
LAZIO
ROMA
Italian Registry of adult patients affected by familial mediterranean fever
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Centro delle Febbri Periodiche - Istituto di Medicina Interna
ITALIA
LOMBARDIA
RANICA
Registry of steroid-resistant nephrotic syndrome
Istituto di Ricerche Farmacologiche Mario Negri
Centro di Ricerche Cliniche per le Malattie Rare
ITALIA
SICILIA
MESSINA
Behçet's disease registry
A.O.U. Policlinico "G. Martino"
Ambulatorio di Immunologia e Reumatologia Pediatrica
PAISES BAIXOS
Utrecht
NIEUWEGEIN
Biobank of Interstitial Lung Diseases (DNA/serum/plasma/BAL fluid)
St. Antonius Ziekenhuis, locatie Nieuwegein
Longcentrum
REINO UNIDO
Greater London
LONDON
UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
GOSH NHS Foundatin Trust
Juvenile Dermatomyositis Research Centre
REINO UNIDO
Greater London
LONDON
UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
GOSH NHS Foundatin Trust
Rheumatology Unit
REINO UNIDO
Greater London
LONDON
UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
The Institute of Child Health & The Division of Medicine, UCL
The Institute of Child Health & The Division of Medicine
REINO UNIDO
Merseyside
LIVERPOOL
UK and Ireland Juvenile Dermatomyositis Cohort Biomarker Study and Repository
Alder Hey Children's Hospital
Department of Rheumatology
TURQUIA
TURKEY
ISTANBUL
Database setup for the visualisation and examination of oral ulcers in Behcet disease patients
Acibadem University
Department of internal medicine
ALEMANHA
Baden-Württemberg
FREIBURG
PSHN Registry - Purpura Schoenlein-Henoch-Nephritis registry of the German society for paediatric nephrology (GPN)
Zentrum für Kinder- und Jugendmedizin Freiburg
Sektion Kindernephrologie der Klinik für Allgemeine Kinder- und Jugendmedizin
ALEMANHA
Niedersachsen
HANNOVER
Lupus nephritis registry (established by the german paediatric nephrology association)
Medizinische Hochschule Hannover
Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen
ESPANHA
Canarias
LAS PALMAS
Spanish Rheumatology Society Lupus Registry
Hospital Universitario de Gran Canaria Dr. Negrín
Servicio de Reumatología
FRANCA
ILE-DE-FRANCE
PARIS
BLAU registry: French pediatric granulomatous arthritis registry
Hôpital Necker-Enfants Malades
Service d'Immuno-hématologie pédiatrique - Rhumatologie
FRANCA
ILE-DE-FRANCE
PARIS
IRLANDA
County Dublin
DUBLIN
The Irish Rare Kidney Disease Registry and Biobank
St James's Hospital
Trinity Health Kidney Centre - Trinity College Dublin
SUICA
Suisse Alémanique
BASEL
Swiss SLE Cohort Study
Universitätsspital Basel
Association of the Swiss SLE Cohort Study (ASSCS)
SUICA
Suisse Romande
LAUSANNE
Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries)
Centre Hospitalier Universitaire Vaudois CHUV
Swiss registries for Interstitial and Orphan Lung Diseases
Redes de registos e biobancos
ALEMANHA
Niedersachsen
HANNOVER
BMFS: Network for Congenital Bone Marrow Failure Syndromes (patient registry)
Medizinische Hochschule Hannover
Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung
ESPANHA
Madrid
MADRID
SpainRDR: Spanish Rare Disease Registries Research Network (patient registries)
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
REINO UNIDO
West Midlands
BIRMINGHAM
EURO-WABB: An EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
PAISES BAIXOS
Noord-Holland
AMSTERDAM
E-HOD - European network and registry for homocystinurias and methylation defects
Amsterdam UMC, locatie VUmc
Afdeling Interne Geneeskunde
REINO UNIDO
Antrim and Newtownabbey
NEWTOWNABBEY
EUROCAT: European surveillance of congenital anomalies
University of Ulster
Room 12 L09
ITALIA
LIGURIA
GENOVA
EUROFEVER: PReS European network of registries for autoinflammatoy diseases in childhood
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O.C. di Pediatria II - I.A.S. Malattie Autoinfiammatorie
IRLANDA
County Dublin
DUBLIN