Ekrem Akbulut

Malatya, 44900, Turkey

Last Updated: 09/26/2026

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Found 11 publications

SARS-CoV-2 Spike Protein XBB.1.5 Mutations Altered Four Conserved Antigenic Determinants.

SARS-CoV-2 Spike Protein XBB.1.5 Mutations Altered Four Conserved Antigenic Determinants.

Journal: International journal of molecular sciences

Published: January 24, 2026

The role of ATP9A (c.1091G > C; p.(Arg364Thr)) variant in cognitive impairment: diagnostic insight from whole exome sequencing.

The role of ATP9A (c.1091G > C; p.(Arg364Thr)) variant in cognitive impairment: diagnostic insight from whole exome sequencing.

Journal: Molecular biology reports

Published: December 02, 2025

Delineating the Adult Phenotype of PGM2L1 -Related Neurodevelopmental Disorder.

Delineating the Adult Phenotype of PGM2L1 -Related Neurodevelopmental Disorder.

Journal: American journal of medical genetics. Part A

Published: July 10, 2025

A Novel Homozygous TBC1D2B Variant Disrupts Functional Domains and Suggests Impaired Rab-GTPase Regulation in Neurodevelopmental Disorder.

A Novel Homozygous TBC1D2B Variant Disrupts Functional Domains and Suggests Impaired Rab-GTPase Regulation in Neurodevelopmental Disorder.

Journal: Developmental neurobiology

Published: May 29, 2025

Functional evaluation of NAA10 variants in patients with Ogden syndrome.

Functional evaluation of NAA10 variants in patients with Ogden syndrome.

Journal: Psychiatric genetics

Published: March 12, 2025

Biallelic novel CCDC186 loss-of-function variant disrupting the gene function causes neurodevelopmental phenotype and review of the literature.

Biallelic novel CCDC186 loss-of-function variant disrupting the gene function causes neurodevelopmental phenotype and review of the literature.

Journal: Brain & development

Published: February 10, 2025

Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.

Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.

Journal: Brain & development

Published: July 10, 2024

Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism

Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism

Journal: Journal of clinical research in pediatric endocrinology

Published: January 26, 2023

Investigation of changes in protein stability and substrate affinity of 3CL-protease of SARS-CoV-2 caused by mutations.

Investigation of changes in protein stability and substrate affinity of 3CL-protease of SARS-CoV-2 caused by mutations.

Journal: Genetics and molecular biology

Published: December 16, 2021

Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.

Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.

Journal: Molecular syndromology

Published: August 11, 2021

Comprehensive structural analysis of the open and closed conformations of Theileria annulata enolase by molecular modelling and docking.

Comprehensive structural analysis of the open and closed conformations of Theileria annulata enolase by molecular modelling and docking.

Journal: Computational biology and chemistry

Published: February 29, 2016

Showing 1-11 of 11

Last Updated: 09/26/2026