Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

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作者： Heidi,Cope ^[1] ; Rebecca,Spillmann ^[1] ; Jill A,Rosenfeld ^[2] ; Elly,Brokamp ^[3] ; Rebecca,Signer ^[4] ; Kelly,Schoch ^[1] ; Emily,Glanton ^[5] ; Jennifer A,Sullivan ^[1] ; Ellen,Macnamara ^[6] ; Sharyn,Lincoln ^[7] ; Katie,Golden-Grant ^[8] ; Undiagnosed Diseases Network ^[6] ; James P,Orengo ^[9] ; Gary,Clark ^[9] ; Lindsay C,Burrage ^[2] ; Jennifer E,Posey ^[2] ; Jaya,Punetha ^[2] ; Amy,Robertson ^[3] ; Joy,Cogan ^[3] ; John A,Phillips ^[3] ; Julian,Martinez-Agosto ^[4] ; Vandana,Shashi ^[1]

作者单位： Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. ^[1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ^[2] Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. ^[3] Department of Human Genetics, University of California, Los Angeles, CA, USA. ^[4] Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. ^[5] Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA. ^[6] Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. ^[7] Division of Medical Genetics, University of Washington, Seattle, WA, USA. ^[8] Department of Neurology, Baylor College of Medicine, Houston, TX, USA. ^[9]

关键词 exome sequencing genome sequencing phenotyping targeted genetic testing variant interpretation

主题词青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);数据库, 事实型(Databases, Factual);诊断, 计算机辅助(Diagnosis, Computer-Assisted);女(雌)性(Female);遗传性疾病, 先天性(Genetic Diseases, Inborn);基因检测(Genetic Testing);人类(Humans);信息传播(Information Dissemination);男(雄)性(Male);中年人(Middle Aged);国立卫生研究院(美国)(National Institutes of Health (U.S.));表型(Phenotype);美国(United States);青年人(Young Adult)

DOI 10.1002/mgg3.1397

PMID 32730690

发布时间 2024-07-10

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准确一般字义偏差语意偏离译文作用小提交

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Molecular genetics & genomic medicine

2020年8卷10期

e1397页

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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Molecular genetics & genomic medicine

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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

相关期刊

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