P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases

Lignende værker

• A rare case of uniparental isodisomy of chromosome 19 with no phenotypic abnormalities
  af: Jieping Song, et al.
  Udgivet: (2021-03-01)
• 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy
  af: Michelle L. Kluge, et al.
  Udgivet: (2026-01-01)
• A rare case of complete uniparental isodisomy of chromosome 2 with no phenotypic abnormalities
  af: Jieping Song, et al.
  Udgivet: (2021-03-01)
• A case of partial paternal uniparental isodisomy of chromosome 7 with no phenotypic abnormalities
  af: Fangfang liu, et al.
  Udgivet: (2025-01-01)
• Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus
  af: Hannah Bogardus, et al.
  Udgivet: (2014-09-01)