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Projetos de investigação encerrados = Financiado por um membro do IRDiRC =
Membro de uma ERN =
Projetos de investigação

ALEMANHA
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

ESPANHA
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

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

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

ESPANHA
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

ESPANHA
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

ESPANHA
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 investigación en enfermedades raras, mitocondriales y neuromusculares

ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCA
BRETAGNE
RENNES
Identification of genes involved in syndromic disorders of sex development
CHU de Rennes - Hôpital Pontchaillou
Service de Cytogénétique et Biologie Cellulaire

SUECIA
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)

SUICA
Suisse Romande
FRIBOURG
Understanding human sex development and its defects: novel approaches
Université de Fribourg
Département d'endocrinologie, métabolisme et système cardiovasculaire (EMC)

ALEMANHA
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

REINO UNIDO
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
Projetos de investigação multicêntricos
- Charité - Universitätsmedizin Berlin (CVK)
- BCSE - Berliner Centrum für Seltene Erkrankungen (ZSE)
- UCL Institute for Women's Health
- UCLH Women's Health Division
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

ALEMANHA
Berlin
BERLIN
DSD-Life: Clinical European study on the outcome of surgical and hormonal therapy and psychological intervention in disorders of sex development (DSD)

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

ALEMANHA
Sachsen-Anhalt
MAGDEBURG