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List of works by Mehmet Tekman

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation

scientific article (publication date: July 2014)

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

scientific article published on 07 February 2017

Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration

scientific article

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

scientific article

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

scientific article published on 13 April 2018

HaploForge: A Comprehensive Pedigree Drawing and Haplotype Visualisation Web Application.

scientific article published on 14 August 2017

Noncoding deletions reveal a gene that is critical for intestinal function

scientific article published on 19 June 2019

OVAS: an open-source variant analysis suite with inheritance modelling.

scientific article published on 8 February 2018

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

scientific article published on 3 April 2017

STAG3 truncating variant as the cause of primary ovarian insufficiency

scientific article published on 10 June 2015

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