Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.

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第一作者： Domenica,Taruscio

第一单位： National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy. Electronic address: domenica.taruscio@iss.it.

作者： Domenica,Taruscio ^[1] ; Stephen C,Groft ^[2] ; Helene,Cederroth ^[3] ; Béla,Melegh ^[4] ; Paul,Lasko ^[5] ; Kenjiro,Kosaki ^[6] ; Gareth,Baynam ^[7] ; Alexa,McCray ^[8] ; William A,Gahl ^[9]

作者单位： National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy. Electronic address: domenica.taruscio@iss.it. ^[1] National Center for Advancing Translational Sciences, National Institutes of Health, United States. ^[2] Wilhelm Foundation, Sweden. ^[3] Department of Medical Genetics, University of Pécs, Hungary. ^[4] Department of Biology, McGill University, Montreal, Canada. ^[5] Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. ^[6] Princess Margaret and King Edward Memorial Hospitals, Perth, Australia; Office of Population Health, Public Health Division, WA Department of Health, Australia; Telethon Kids Institute, Perth, Australia; Western Australian Registry of Developmental Anomalies, Perth, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Australia. ^[7] Center for Biomedical Informatics, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States. ^[8] NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, United States. ^[9]

关键词 Diagnosis Global health Omics Ontology Rare diseases Undiagnosed

主题词政府规划(Government Programs);人类(Humans);国际合作(International Cooperation);国立卫生研究院(美国)(National Institutes of Health (U.S.));蛋白质组学(Proteomics);少见病(Rare Diseases);美国(United States)

DOI 10.1016/j.ymgme.2015.11.003

PMID 26596705

发布时间 2018-08-22

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准确一般字义偏差语意偏离译文作用小提交