Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series

Lignende værker

• Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis
  af: Long, Xigui, et al.
  Udgivet: (2018)
• Whole exome sequencing and methylation-specific multiplex ligation-dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients
  af: Li, Haibei, et al.
  Udgivet: (2019)
• Oncogene amplification in male breast cancer: analysis by multiplex ligation-dependent probe amplification
  af: Kornegoor, Robert, et al.
  Udgivet: (2012)
• MAPD: a probe design suite for multiplex ligation-dependent probe amplification assays
  af: Zhi, Jizu
  Udgivet: (2010)
• Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism
  af: Zhang, Ying-Zi, et al.
  Udgivet: (2019)