期刊论文详细信息
Orphanet Journal of Rare Diseases | |
Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT | |
Ana Luísa Carvalho1  Jorge Saraiva2  José Henriques3  João Pedro Marques4  Rufino Silva4  Joaquim Neto Murta4  | |
[1] Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal;Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal;University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal;Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal;Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal;University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal;Instituto de Oftalmologia Dr. Gama Pinto (IOGP), Lisbon, Portugal;Ophthalmology Unit, Centro de Responsabilidade Integrado em Oftalmologia (CRIO), Centro Hospitalar e Universitário de Coimbra (CHUC), Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal;University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal;Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal; | |
关键词: Inherited retinal dystrophies; Registry; Rare diseases; Interoperability; Software; Data management; Research; Epidemiology; Natural history; Clinical genetics; | |
DOI : 10.1186/s13023-020-01591-6 | |
来源: Springer | |