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Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination.

Tadashi ShiohamaMitsuko NakashimaHajime IkeharaMitsuhiro KatoHirotomo Saitsu
Published in: Congenital anomalies (2019)
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • risk factors
  • subarachnoid hemorrhage
  • mental health
  • minimally invasive
  • dna methylation
  • single cell
  • cerebral ischemia
  • gene expression