Search filters

List of works by Ehsan Razmara

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

scientific article published on 22 July 2020

A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients

scientific article published on 14 July 2020

Functional Analysis of RELN S2486G Mutation and its Contribution to Pathogenesis of Ankylosing Spondylitis

scientific article published on 01 October 2020

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family

scientific article published on 20 February 2020

Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS

scientific article published on 30 January 2020

Non-Coding RNAs in Cartilage Development: An Updated Review

scientific article published on 11 September 2019

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

scientific article published on 18 November 2020

The expression analysis of Fra-1 gene and IL-11 protein in Iranian patients with ulcerative colitis.

scientific article

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

scientific article published in March 2018

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

scientific article published on 19 May 2020

Upregulation of the long noncoding RNAs DSCAM-AS1 and MANCR is a potential diagnostic marker for breast carcinoma

scientific article published on 04 October 2020

Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

scientific article published on 15 January 2020

Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.

scientific article published on 3 July 2018

Paulina is supported by:

About Paulina

Help