First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects

Eitemau Tebyg

• Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
  gan: Konialis, Christopher, et al.
  Cyhoeddwyd: (2017)
• Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
  gan: Normand, Elizabeth A., et al.
  Cyhoeddwyd: (2018)
• Prenatal Ultrasound Screening for External Ear Abnormality in the Fetuses
  gan: Jun Wei, et al.
  Cyhoeddwyd: (2014-01-01)
• Prenatal Ultrasound Screening for External Ear Abnormality in the Fetuses
  gan: Wei, Jun, et al.
  Cyhoeddwyd: (2014)
• Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
  gan: Carss, Keren J., et al.
  Cyhoeddwyd: (2014)