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Progetti di ricerca terminati = Finanziato da un ente associato a IRDiRC = Membro di una ERN =

Progetti di ricerca

PAESI BASSI

Gelderland
NIJMEGEN

Finanziato da un ente associato a IRDiRCTREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

GERMANIA

Baden-Württemberg
FREIBURG

SFB 1140 (KIDGEM) : Identification of TULP3-mutations in patients with cystic kidney disease and related ciliopathies
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCNEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie

GERMANIA

Nordrhein-Westfalen
KÖLN

GERMANIA

Nordrhein-Westfalen
MÜNSTER

Finanziato da un ente associato a IRDiRCNEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

PAESI BASSI

Zuid-Holland
ROTTERDAM

Obstructive sleep apnea in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

PAESI BASSI

Zuid-Holland
ROTTERDAM

Brain anomalies in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

PAESI BASSI

Zuid-Holland
ROTTERDAM

Genetic causes of craniofacial anomalies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

PAESI BASSI

Zuid-Holland
ROTTERDAM

Disturbed breathing in craniofacial disorders
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

PAESI BASSI

Zuid-Holland
ROTTERDAM

Cerebral blood flow in relation to intracranial pressure in craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

REGNO UNITO; GRAN BRETAGNA

Essex
LONDON

Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

Finanziato da un ente associato a IRDiRCDIVERCIL: Understanding cilia and flagella diversity
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCPathophysiological mechanisms of microcephaly
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

IRLANDA

County Dublin
DUBLIN

Finanziato da un ente associato a IRDiRCEnsemble averaging for complex disease prediction in the large p small n domain from multiple data sources
Trinity College Dublin
School of Computer Science and Statistcs - O'Reilly Institute

NORVEGIA

Østlandet
OSLO

Genetics of craniosynostosis
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRole of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCRho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

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

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
BARCELONA

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

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

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

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)

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

Progetti di ricerca multicentrici