Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy

Podobne zapisy

• Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy
  od: Arts, H, i wsp.
  Wydane: (2012)
• Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy
  od: Lehman, A.M., i wsp.
  Wydane: (2010)
• Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
  od: Batuhan Aksoy, i wsp.
  Wydane: (2025-02-01)
• ASPHYXIATING THORACIC DYSTROPHY
  od: CHANDAR, VIPAN, i wsp.
  Wydane: (1998)
• Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
  od: Schmidts, Miriam, i wsp.
  Wydane: (2013)