Whole exome screening of neurodevelopmental regression disorders in a cohort of egyptian patients

HIGHLIGHTS

  • who: Miral M. Refeat from the Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt have published the article: Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients, in the Journal: (JOURNAL)
  • what: This study focused on screening causative genes of developmental regression diseases comprising neurodegenerative disorders in Egyptian patients using next-generation sequencing (NGS)-based analyses as well as developing checklist to support clinicians who are not familiar with these diseases. This study provided an NGS-based approach of the genetic causes of . . .

     

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