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Genetic Testing Requires NGS and Sanger Methodologies

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  • المؤلفون: Jennings, Lawrence J.; Kirschmann, Dawn
  • المصدر:
    Pediatric Neurology Briefs; Vol 30, No 09 | Sep 2016; 36 ; 2166-6482 ; 1043-3155 ; 10.15844/pedneurbriefs-30-9
  • الموضوع:
  • نوع التسجيلة:
    article in journal/newspaper
  • اللغة:
    English
  • معلومة اضافية
    • بيانات النشر:
      Pediatric Neurology Briefs Publishers
    • الموضوع:
      2016
    • Collection:
      Pediatric Neurology Briefs (E-Journal)
    • نبذة مختصرة :
      Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.
    • File Description:
      application/xml; application/pdf
    • Relation:
      https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-30-9-1/3392; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-30-9-1/3393; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-30-9-1
    • الرقم المعرف:
      10.15844/pedneurbriefs-30-9-1
    • الدخول الالكتروني :
      https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-30-9-1
      https://doi.org/10.15844/pedneurbriefs-30-9-1
    • Rights:
      Copyright (c) 2016 The Author(s) ; https://creativecommons.org/licenses/by/4.0
    • الرقم المعرف:
      edsbas.96AB25F8