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23 Result(s)
Terminated research projects = Funded by an IRDiRC member =
Study involving ERN members in at least two Member States =
Research projects

FRANCE
ILE-DE-FRANCE
PARIS
Evolution of the psychosocial impact of the diagnostic announcement of Rokitansky syndrome: EIPSAMRKH5
Hôpital Necker-Enfants Malades
Service d'endocrinologie, gynécologie et diabétologie pédiatrique

GERMANY
Baden-Württemberg
TÜBINGEN
Impact of MRKH syndrome in somatic, social and mental health
Universitäts-Frauenklinik Tübingen
Frauenklinik

GERMANY
Baden-Württemberg
TÜBINGEN
Investigation of histological and immunohistochemical organisation of the uterine rudiments in MRKH patients
Universitäts-Frauenklinik Tübingen
Frauenklinik

GERMANY
Baden-Württemberg
TÜBINGEN
Impact of MRKH syndrome in somatic, social and mental health
ViTa-Gebäude Talklinikum
Abteilung Psychosomatische Medizin und Psychotherapie am Universitätsklinikum Tübingen

NORWAY
Østlandet
OSLO
Oversettelse og pilotutprøving av online intervensjonsprogram for ungdom
Oslo University Hospital, Rikshospitalet
SSD - Senter for sjeldne diagnoser

GERMANY
Schleswig-Holstein
LÜBECK
DSDCare: Standardized healthcare-center-centered care of DSD over the life span
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Hormonzentrum für Kinder und Jugendliche - Lübeck

CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program

CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

SPAIN
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica

SPAIN
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica

SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia

SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética

SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de Neurogenética y Medicina Molecular

SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAIN
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de Enfermedades raras, mitocondriales y neuromusculares

GERMANY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
Multicentric Research projects
- UCL Institute for Women's Health
- UCLH Women's Health Division
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Kinderurologie
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

UNITED KINGDOM
Greater London
LONDON
EuroPSI - European Network for Psychosocial Studies in Intersex / Diverse Sex Development

NETHERLANDS
Gelderland
NIJMEGEN
EUROSTEC: soft tissue engineering for congenital birth defects: New treatment modalities for spina bifida, urogenitial and abdominal wall defects (COMPLETED)

GERMANY
Sachsen-Anhalt
MAGDEBURG