Share
PDF
Other content recommended for you
- From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease
- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
- Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
- ‘Next Generation Sequencing’ as a diagnostic tool in paediatrics
- Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
- Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
- Application of whole exome sequencing in undiagnosed inherited polyneuropathies
- Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes
- A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability
- Four study design principles for genetic investigations using next generation sequencing