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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Cope, Heidi; Spillmann, Rebecca; Rosenfeld, Jill A; Brokamp, Elly; Signer, Rebecca; Schoch, Kelly; Kelley, Emily G; Sullivan, Jennifer A; Macnamara, Ellen; Lincoln, Sharyn; Golden-Grant, Katie; Orengo, James P; Clark, Gary; Burrage, Lindsay C; Posey, Jennifer E; Punetha, Jaya; Robertson, Amy; Cogan, Joy; Phillips, John A; Martinez-Agosto, Julian; Shashi, Vandana.
Afiliação
  • 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.
  • Kelley EG; 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; 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.
Mol Genet Genomic Med ; 8(10): e1397, 2020 10.
Article em En | MEDLINE | ID: mdl-32730690
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Bases de Dados Factuais / Diagnóstico por Computador / Diagnóstico Ausente / Doenças não Diagnosticadas / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Bases de Dados Factuais / Diagnóstico por Computador / Diagnóstico Ausente / Doenças não Diagnosticadas / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Ano de publicação: 2020 Tipo de documento: Article