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Projetos de investigação encerrados = 
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Projetos de investigação
PAISES BAIXOS
Gelderland
NIJMEGEN
TREATCilia: 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
NEOCYST: 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
ESSEN
NEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
Universitätsklinikum Essen
Klinik für Kinderheilkunde II
ALEMANHA
Nordrhein-Westfalen
KÖLN
NEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
Universitätsklinikum Köln
Pädiatrische Nephrologie, Immunologie und Hypertensiologie
ALEMANHA
Nordrhein-Westfalen
MÜNSTER
NEOCYST: 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
ALEMANHA
Rheinland-Pfalz
MAINZ
NEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
Limbach Genetics GmbH
Medizinische Genetik Mainz - Limbach Genetics
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
ESPANHA
Cataluña
BARCELONA
Clinical, genetic and allelic heterogeneity of early-onset hereditary kidney diseases: novel molecular causes of congenital anomalies of the kidney and urinary tract
Fundació Puigvert
Laboratorio de Biología Molecular
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Role of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US
FRANCA
AUVERGNE-RHONE-ALPES
LYON
DIVERCIL: Understanding cilia and flagella diversity
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
FRANCA
ILE-DE-FRANCE
PARIS
Pathophysiological mechanisms of microcephaly
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
IRLANDA
County Dublin
DUBLIN
Establishment of a scalable semantic data architecture for study of chronic disease
Trinity College Dublin
ADAPT Centre
IRLANDA
County Dublin
DUBLIN
Ensemble 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
ITALIA
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
ITALIA
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
NORUEGA
Østlandet
OSLO
Genetics of craniosynostosis
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie
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
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
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
ESPANHA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPANHA
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
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
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 investigación en enfermedades raras, mitocondriales y neuromusculares
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCA
ILE-DE-FRANCE
PARIS
Rho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
ALEMANHA
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
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
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)
REINO UNIDO
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
Projetos de investigação multicêntricos
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
- Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Cliniques universitaires Saint-Luc - UCLouvain
- Laboratory of Nephrology
- Trinity College Dublin
- ADAPT Centre
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
- Faculty of Medical and Human Sciences - University of Manchester
- Department of Dental Medicine and Surgery
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
ITALIA
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
PAISES BAIXOS
Gelderland
NIJMEGEN
SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease
ALEMANHA
Baden-Württemberg
HEIDELBERG
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)
ALEMANHA
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: the European network for the study of orphan nephropathies
IRLANDA
County Dublin
DUBLIN
HELICAL - Health Data Linkage for Clinical Benefit
ITALIA
LAZIO
ROMA
GENESKIN: European network on rare genetic skin diseases
REINO UNIDO
Greater Manchester
MANCHESTER
EUROCRAN: European collaboration on craniofacial anomalies - Eurocleft clinical network (TERMINATED)
ALEMANHA
Sachsen-Anhalt
MAGDEBURG