Sebnem Sag-Ozemri

Bursa, 16059, Turkey

Last Updated: 09/26/2026

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Found 20 publications

ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.

ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.

Journal: International journal of molecular sciences

Published: December 22, 2025

Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.

Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.

Journal: Irish journal of medical science

Published: April 25, 2025

Computational Analysis of CC2D1A Missense Mutations: Insight into Protein Structure and Interaction Dynamics.

Computational Analysis of CC2D1A Missense Mutations: Insight into Protein Structure and Interaction Dynamics.

Journal: ACS chemical neuroscience

Published: January 10, 2025

GFPT1-related congenital myasthenic syndrome misdiagnosed as myopathy: clinical and genetic insights.

GFPT1-related congenital myasthenic syndrome misdiagnosed as myopathy: clinical and genetic insights.

Journal: Acta neurologica Belgica

Published: April 11, 2024

Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region.

Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region.

Journal: Biomedicines

Published: April 06, 2024

Pan-Immune-Inflammation Value Could Be a New Marker to Predict Amyloidosis and Disease Severity in Familial Mediterranean Fever.

Pan-Immune-Inflammation Value Could Be a New Marker to Predict Amyloidosis and Disease Severity in Familial Mediterranean Fever.

Journal: Diagnostics (Basel, Switzerland)

Published: January 28, 2024

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience

An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience

Journal: Journal of clinical research in pediatric endocrinology

Published: April 19, 2023

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Journal: European journal of breast health

Published: March 29, 2023

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Journal: British journal of haematology

Published: December 09, 2022

BRCA Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models.

BRCA Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models.

Journal: Genes

Published: October 17, 2021

Mutation Status and Immunohistochemical Correlation of EGFR Mutations in Gastrointestinal Stromal Tumors.

Mutation Status and Immunohistochemical Correlation of EGFR Mutations in Gastrointestinal Stromal Tumors.

Journal: Balkan journal of medical genetics : BJMG

Published: August 27, 2021

Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.

Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.

Journal: Clinical and experimental immunology

Published: August 15, 2021

Showing 1-12 of 20

Last Updated: 09/26/2026