Author: Moosa, Shahida
Similar Items: A phenotypic approach to diagnosing Neurodevelopmental disorders in South African patients using clinical exome sequencing and bioinformatic pipelines
- Optimising a clinical whole exome sequencing pipeline: diagnosing South African patients with osteogenesis imperfecta
- The utilisation of whole exome sequencing to dissect the genetic aetiology of familial Parkinson’s disease in a South African Afrikaner family
- A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders
- Identification of novel Parkinson’s disease genes in the South African population using a whole exome sequencing approach
- Clinical utility of next-generation sequencing in children with cryptogenic cerebral palsy; a cohort study from a tertiary paediatric neurology clinic in the Western Cape Province of South Africa
- Characterisation of SNPs associated with growth rate in dusky kob (Argyrosomus japonicus), using exome sequencing