Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
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| Title: | Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. |
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| Authors: | Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Brokamp E; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Signer R; Department of Human Genetics, University of California, Los Angeles, CA, USA., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Glanton E; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Macnamara E; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA., Lincoln S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Golden-Grant K; Division of Medical Genetics, University of Washington, Seattle, WA, USA., Orengo JP; Department of Neurology, Baylor College of Medicine, Houston, TX, USA., Clark G; Department of Neurology, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Robertson A; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Cogan J; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Phillips JA 3rd; Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Martinez-Agosto J; Department of Human Genetics, University of California, Los Angeles, CA, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. |
| Corporate Authors: | Undiagnosed Diseases Network; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, NIH, Bethesda, MD, USA. |
| Source: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1397. Date of Electronic Publication: 2020 Jul 30. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2324-9269 |
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| DOI: | 10.1002/mgg3.1397 |
