Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

Lignende værker

• Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
  af: Jung, Jiwon, et al.
  Udgivet: (2021)
• A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures
  af: Jee-Yeon Han, et al.
  Udgivet: (2016-11-01)
• A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures
  af: Han, Jee-Yeon, et al.
  Udgivet: (2016)
• Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
  af: Seo, Go Hun, et al.
  Udgivet: (2020)
• Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia
  af: Ahn, Hyunji, et al.
  Udgivet: (2020)