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List of works by Evren Gumus

A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay

scientific article published on 13 February 2019

A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis

scientific article published on 25 July 2019

A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

scientific article published on 01 April 2019

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?

scientific article

Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey

scientific article published on 20 July 2020

MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome

scientific article published on 27 August 2020

Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B

scientific article published on 07 January 2020

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

scientific article published on 7 May 2018

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