The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families

Antzeko izenburuak

• The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families
  nork: Ehsan Razmara, et al.
  Argitaratua: (2018-03-01)
• A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family
  nork: Afrooz Sepahvand, et al.
  Argitaratua: (2020-10-01)
• A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family
  nork: Sepahvand, Afrooz, et al.
  Argitaratua: (2020)
• Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
  nork: Razmara, Ehsan, et al.
  Argitaratua: (2020)
• Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome
  nork: Fatemeh Bitarafan, et al.
  Argitaratua: (2020-08-01)