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Progetti di ricerca

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCApplication of genomic techniques (whole genome and 4C-Seq for TDAs) in patients with Overgrowth Syndromes
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Fundación para la Investigación Biomédica del H.U. La Paz

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

GERMANIA

Baden-Württemberg
HEIDELBERG

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

GERMANIA

Niedersachsen
HANNOVER

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

AUSTRIA

OBERÖSTERREICH
LINZ

EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT
Kepler Universitätsklinikum - Med Campus IV.
Universitätsklinik für Kinder- und Jugendheilkunde

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
OTTAWA, ONTARIO

Finanziato da un ente associato a IRDiRCDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

CANADA

Ontario
TORONTO

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

FRANCIA

BOURGOGNE-FRANCHE-COMTE
DIJON

GERMANIA

Sachsen-Anhalt
MAGDEBURG

Finanziato da un ente associato a IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

SPAGNA

Cataluña
SABADELL

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCMechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCIdentification 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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCMalattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

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

Madrid
MADRID

FRANCIA

BOURGOGNE-FRANCHE-COMTE
DIJON

Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

ITALIA

LAZIO
ROMA

SVEZIA

Region Stockholm
STOCKHOLM

Chromosomal anomaly
Karolinska Universitetssjukhuset - Solna
Department of Clinical Genetics (Klinisk genetik)

Progetti di ricerca multicentrici