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

Projetos de investigação

PAISES BAIXOS

Gelderland
NIJMEGEN

Financiado por um membro do IRDiRCTREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

ALEMANHA

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

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do 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

ALEMANHA

Nordrhein-Westfalen
KÖLN

ALEMANHA

Nordrhein-Westfalen
MÜNSTER

Financiado por um membro do 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

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

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

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

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

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

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

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

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

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

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

REINO UNIDO

Essex
LONDON

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRole of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US

FRANCA

AUVERGNE-RHONE-ALPES
LYON

Financiado por um membro do IRDiRCDIVERCIL: Understanding cilia and flagella diversity
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCPathophysiological mechanisms of microcephaly
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

IRLANDA

County Dublin
DUBLIN

IRLANDA

County Dublin
DUBLIN

Financiado por um membro do 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

NORUEGA

Østlandet
OSLO

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

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

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

ESPANHA

Cataluña
BARCELONA

ESPANHA

Cataluña
BARCELONA

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

Financiado por um membro do 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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCRho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

Financiado por um membro do IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

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

Financiado por um membro do IRDiRCDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

Projetos de investigação multicêntricos