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Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Burdick, Kendall J; Cogan, Joy D; Rives, Lynette C; Robertson, Amy K; Koziura, Mary E; Brokamp, Elly; Duncan, Laura; Hannig, Vickie; Pfotenhauer, Jean; Vanzo, Rena; Paul, Michael S; Bican, Anna; Morgan, Thomas; Duis, Jessica; Newman, John H; Hamid, Rizwan; Phillips, John A.
Afiliación
  • Burdick KJ; University of Massachusetts of Medical School, Worcester, Massachusetts, USA.
  • Cogan JD; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Rives LC; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Robertson AK; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Koziura ME; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Brokamp E; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Duncan L; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Hannig V; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Pfotenhauer J; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Vanzo R; Lineagen Inc., Salt Lake City, Utah, USA.
  • Paul MS; Lineagen Inc., Salt Lake City, Utah, USA.
  • Bican A; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Morgan T; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Duis J; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Newman JH; Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Hamid R; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • Phillips JA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Am J Med Genet A ; 182(6): 1400-1406, 2020 06.
Article en En | MEDLINE | ID: mdl-32190976
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Enfermedades Raras / Secuenciación del Exoma / Enfermedades no Diagnosticadas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Enfermedades Raras / Secuenciación del Exoma / Enfermedades no Diagnosticadas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos