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Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard, Sarah; Biswas, Sawona; Li, Mindy H; Jayaraman, Vijayakumar; Slack, Ian; Romasko, Edward J; Sasson, Ariella; Brunton, Joshua; Rajagopalan, Ramakrishnan; Sarmady, Mahdi; Abrudan, Jenica L; Jairam, Sowmya; DeChene, Elizabeth T; Ying, Xiahoan; Choi, Jiwon; Wilkens, Alisha; Raible, Sarah E; Scarano, Maria I; Santani, Avni; Pennington, Jeffrey W; Luo, Minjie; Conlin, Laura K; Devkota, Batsal; Dulik, Matthew C; Spinner, Nancy B; Krantz, Ian D.
Afiliación
  • Sheppard S; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Biswas S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Li MH; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Jayaraman V; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Slack I; Division of Genetics, Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA.
  • Romasko EJ; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Sasson A; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Brunton J; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Rajagopalan R; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Sarmady M; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Abrudan JL; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Jairam S; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • DeChene ET; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ying X; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Choi J; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Wilkens A; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Raible SE; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Scarano MI; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Santani A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pennington JW; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Luo M; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Conlin LK; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
  • Devkota B; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Dulik MC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Spinner NB; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Krantz ID; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Genet Med ; 20(12): 1663-1676, 2018 12.
Article en En | MEDLINE | ID: mdl-29907799
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Patología Molecular / Secuenciación de Nucleótidos de Alto Rendimiento / Secuenciación del Exoma / Pérdida Auditiva Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Patología Molecular / Secuenciación de Nucleótidos de Alto Rendimiento / Secuenciación del Exoma / Pérdida Auditiva Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos