Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

Samankaltaisia teoksia

• Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family
  Tekijä: Liu, Hong-Yan, et al.
  Julkaistu: (2016)
• Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family
  Tekijä: Chen, Dezhong, et al.
  Julkaistu: (2017)
• A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
  Tekijä: Shao, Jiashen, et al.
  Julkaistu: (2020)
• Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
  Tekijä: Tang, Hui, et al.
  Julkaistu: (2021)
• Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing
  Tekijä: Lyu, Nan, et al.
  Julkaistu: (2016)