All Stories

  1. Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy
  2. Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin
  3. Autoantibodies against type I IFNs in patients with life-threatening COVID-19
  4. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
  5. Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
  6. Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion
  7. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
  8. Inferring the effect of genomic variation in the new era of genomics
  9. Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms
  10. Clinical RNA sequencing for better diagnosis of genetic diseases
  11. Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies
  12. Flightin maintains myofilament lattice organization required for optimal flight power and courtship song quality in Drosophila
  13. Phosphorylation of the regulatory light chain of myosin in striated muscle: methodological perspectives
  14. Mutations of the Drosophila Myosin Regulatory Light Chain Affect Courtship Song and Reduce Reproductive Success
  15. Courtship song analysis of Drosophila muscle mutants
  16. Amplification of Orthologous Genes Using Degenerate Primers