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Projets de recherche
ALLEMAGNE
Bayern
WÜRZBURG
Observational Clinical Study of Muenke Syndrome: Cognitive Function, Development, and Hearing in Patients with Muenke Syndrome
Universitätsklinikum Würzburg
Sektion für Pädiatrische Neurochirurgie
PAYS-BAS
Zuid-Holland
ROTTERDAM
Obstructive sleep apnea in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAYS-BAS
Zuid-Holland
ROTTERDAM
Brain anomalies in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAYS-BAS
Zuid-Holland
ROTTERDAM
Genetic causes of craniofacial anomalies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAYS-BAS
Zuid-Holland
ROTTERDAM
Disturbed breathing in craniofacial disorders
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PAYS-BAS
Zuid-Holland
ROTTERDAM
Cerebral blood flow in relation to intracranial pressure in craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
ROYAUME-UNI
Essex
LONDON
Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Role of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US
ITALIE
LAZIO
ROMA
Analysis of molecular profile of human craniosynostosis as a paradigmatic model of altered osteogenesis: identification of the molecular pathogenesis aiming to explore the discovery of new diagnostic markers and therapeutic targets
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. di Neurochirurgia Infantile
ITALIE
LAZIO
ROMA
Analysis of molecular profile of human craniosynostosis as a paradigmatic model of altered osteogenesis: identification of the molecular pathogenesis aiming to explore the discovery of new diagnostic markers and therapeutic targets
Università Cattolica del Sacro Cuore
Istituto di Anatomia Umana e Biologia Cellulare
ALLEMAGNE
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
CANADA
Ontario
OTTAWA, ONTARIO
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)
ESPAGNE
Madrid
MADRID
Evaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia
ROYAUME-UNI
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAGNE
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
JAPON
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPON
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPON
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
Projets de recherche multicentriques
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Faculty of Medical and Human Sciences - University of Manchester
- Department of Dental Medicine and Surgery
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
ALLEMAGNE
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
ROYAUME-UNI
Greater Manchester
MANCHESTER
EUROCRAN: European collaboration on craniofacial anomalies - Eurocleft clinical network (TERMINATED)
ALLEMAGNE
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française
ITALIE
LAZIO
ROMA