All Stories

  1. Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
  2. Upregulation of the long noncoding RNAs DSCAM‐AS1 and MANCR is a potential diagnostic marker for breast carcinoma
  3. Functional Analysis of RELN S2486G Mutation and its Contribution to Pathogenesis of Ankylosing Spondylitis
  4. A panel of six-circulating miRNA signature in serum and its potential diagnostic value in colorectal cancer
  5. A novel variant of ST3GAL3 causes non‐syndromic autosomal recessive intellectual disability in Iranian patients
  6. A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family
  7. Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome
  8. Homozygous in‐frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family
  9. Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS
  10. Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
  11. Non-Coding RNAs in Cartilage Development: An Updated Review
  12. S3440P Substitution in C-Terminal Region of Human Reelin Dramatically Impairs Secretion of Reelin from HEK 293T Cells
  13. Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease
  14. The expression analysis of Fra-1 gene and IL-11 protein in Iranian patients with ulcerative colitis