A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

類似資料

• De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences
  著者:: Takuya Hiraide, 等
  出版事項: (2019-09-01)
• De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences
  著者:: Hiraide, Takuya, 等
  出版事項: (2019)
• Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder
  著者:: Koshimizu, Eriko, 等
  出版事項: (2013)
• A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination
  著者:: Miyamoto, Sachiko, 等
  出版事項: (2019)
• Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
  著者:: Saitsu, Hirotomo, 等
  出版事項: (2016)