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Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Mergnac, Jean-Philippe; Wiedemann, Arnaud; Chery, Céline; Ravel, Jean-Marie; Namour, Farès; Guéant, Jean-Louis; Feillet, François; Oussalah, Abderrahim.
Afiliación
  • Mergnac JP; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France.
  • Wiedemann A; Department of Pediatrics, University Hospital of Nancy, 54000, Nancy, France.
  • Chery C; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France.
  • Ravel JM; Pediatric Intensive Care Unit, University Hospital of Nancy, 54000, Nancy, France.
  • Namour F; Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, INSERM UMR_S 1256, 54000, Nancy, France.
  • Guéant JL; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, 54000, Nancy, France.
  • Feillet F; Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, INSERM UMR_S 1256, 54000, Nancy, France.
  • Oussalah A; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, and Nutrition, University Hospital of Nancy, 54000, Nancy, France.
Hum Genet ; 141(7): 1269-1278, 2022 Jul.
Article en En | MEDLINE | ID: mdl-34495415
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Enfermedades del Sistema Nervioso Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Alemania