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Progetti di ricerca terminati = 
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Progetti di ricerca
FRANCIA
HAUTS-DE-FRANCE
LILLE
THERAnanoSTICS: Development of a PET nanoradiotracer for vasculomonitoring of angiogenic pathologies
Institut Pasteur de Lille
Récepteurs Nucléaires, Maladies Métaboliques et Cardiovasculaires
FRANCIA
ILE-DE-FRANCE
BOULOGNE-BILLANCOURT
Impact of pulmonary disorder and effect of embolization of pulmonary arteriovenous malformations on the quality of life in the Rendu-Osler disease
CHU Paris IdF Ouest - Hôpital Ambroise Paré
Service de Radiologie
FRANCIA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
THERAnanoSTICS: Development of a PET nanoradiotracer for vasculomonitoring of angiogenic pathologies
Faculté des Sciences Médicales et Paramédicales - Faculté de Pharmacie
Centre de recherche en CardioVasculaire et Nutrition
GERMANIA
Nordrhein-Westfalen
ESSEN
Evaluation of Video-assisted Instructions of Nasal Self-packing in Patients With HHT
Universitätsklinikum Essen
Klinik für Hals-Nasen und Ohrenheilkunde
SPAGNA
Cataluña
L'HOSPITALET DE LLOBREGAT
Clinically relevant new vascular signaling pathways related to Hereditary Hemorrhagic Telangiectasia
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Enfermedades Sistémicas, Vasculares y Envejecimiento
SPAGNA
Madrid
MADRID
Genotype-phenotype Association Study of ENG and ACVRL1 Genes in the Inflammatory and Endothelial Response in Hereditary Hemorrhagic Telangiectasia (HHT) -ES
Hospital Universitario Ramón y Cajal
Servicio de Medicina Interna
SPAGNA
Cataluña
BARCELONA
Quality of life of patients living with vascular LIVEr diseaseS. Developing research on the social impact of rare diseases
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Institut d'Investigacions Biomèdiques August Pi i Sunyer
SPAGNA
Comunidad Valenciana
ALICANTE
Quality of life of patients living with vascular LIVEr diseaseS. Developing research on the social impact of rare diseases
FISABIO-Hospital General Universitario de Alicante
Grupo de Investigación Atenea
SPAGNA
Madrid
ADDRESS: NOT PROVIDED - ES
Quality of life of patients living with vascular LIVEr diseaseS. Developing research on the social impact of rare diseases
Institution: Information not provided - ES
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
FRANCIA
ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale
ITALIA
LAZIO
ROMA
Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAGNA
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
SPAGNA
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica
SPAGNA
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
SPAGNA
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica
Centro Nacional de Análisis Genómico
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAGNA
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
SPAGNA
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente
SPAGNA
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
SPAGNA
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
SPAGNA
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
SPAGNA
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
SVIZZERA
Suisse Alémanique
BERN
Disease-targeted next-generation sequencing panel (VASCSequ) for detection of somatic-mosaic mutations in congenital vascular malformations to enable further advances in personalized therapeutic decision making
Universitätsspital Inselspital
Universitätsklinik für Angiologie
Progetti di ricerca multicentrici
- Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
- Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
GERMANIA
Baden-Württemberg
HEIDELBERG
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)
ITALIA
VENETO
PADOVA