Bekir Erguner

Tuzla, Turkey

Last Updated: 09/26/2026

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Found 13 publications

Recurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism.

Recurrence of ARID1B -related Coffin-Siris Syndrome by possible gonadal mosaicism.

Journal: Clinical dysmorphology

Published: August 30, 2023

Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.

Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.

Journal: The journal of gene medicine

Published: November 11, 2020

Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.

Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.

Journal: The Turkish journal of pediatrics

Published: April 08, 2020

GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.

GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.

Journal: The Turkish journal of pediatrics

Published: December 05, 2018

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Journal: Neuromuscular disorders : NMD

Published: March 30, 2017

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

Journal: Acta neurologica Belgica

Published: September 14, 2016

Draft Genome Sequences of Two Heat-Resistant Mutant Strains (A52 and B41) of the Photosynthetic Hydrogen-Producing Bacterium Rhodobacter capsulatus.

Draft Genome Sequences of Two Heat-Resistant Mutant Strains (A52 and B41) of the Photosynthetic Hydrogen-Producing Bacterium Rhodobacter capsulatus.

Journal: Genome announcements

Published: June 11, 2016

A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.

A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.

Journal: European journal of medical genetics

Published: May 21, 2016

Performance comparison of Next Generation sequencing platforms.

Performance comparison of Next Generation sequencing platforms.

Journal: Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference

Published: January 07, 2016

Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.

Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.

Journal: Journal of human genetics

Published: May 22, 2015

Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair.

Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair.

Journal: Journal of medical genetics

Published: April 26, 2014

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.

Journal: BMC genetics

Published: June 19, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026