Sinem Kocagil

Eskisehir, 26140, Turkey

Last Updated: 09/26/2026

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Found 27 publications

MicroRNAs in Aneurysmal Subarachnoid Hemorrhage: A Stage-Specific Model Linking Rupture, Vasospasm, and Outcome.

MicroRNAs in Aneurysmal Subarachnoid Hemorrhage: A Stage-Specific Model Linking Rupture, Vasospasm, and Outcome.

Journal: Biomedicines
Published: April 30, 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Journal: European journal of human genetics : EJHG
Published: February 21, 2026

IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish Patient.

IFT43-Related Cranioectodermal Dysplasia Type 3: Clinical and Molecular Insights from the First Reported Turkish Patient.

Journal: Molecular syndromology
Published: December 10, 2025

Adult-onset dystonia associated with CHD8 truncating variants: case series and targeted literature review.

Adult-onset dystonia associated with CHD8 truncating variants: case series and targeted literature review.

Journal: Neurogenetics
Published: November 17, 2025

Cerebrospinal Fluid MicroRNAs as Early Biomarker Candidates for Predicting Vasospasm Following Aneurysmal Subarachnoid Hemorrhage.

Cerebrospinal Fluid MicroRNAs as Early Biomarker Candidates for Predicting Vasospasm Following Aneurysmal Subarachnoid Hemorrhage.

Journal: Genes
Published: July 06, 2025

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Journal: Molecular syndromology
Published: June 16, 2025

Chromosomal abnormalities in couples with recurrent pregnancy loss: a 16-year cross-sectional study of 4030 cases from Turkey.

Chromosomal abnormalities in couples with recurrent pregnancy loss: a 16-year cross-sectional study of 4030 cases from Turkey.

Journal: Annals of Saudi medicine
Published: June 07, 2025

Mutant p.Val114Ala Transthyretin-Related Cardiac Amyloidosis with Heart Failure and Right Bundle Branch Block.

Mutant p.Val114Ala Transthyretin-Related Cardiac Amyloidosis with Heart Failure and Right Bundle Branch Block.

Journal: Anatolian journal of cardiology
Published: May 20, 2025

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Journal: Clinical genetics
Published: April 23, 2025

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.

Journal: European journal of human genetics : EJHG
Published: January 26, 2025

A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism.

A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism.

Journal: Molecular syndromology
Published: January 09, 2025

Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis.

Research on the effectiveness of CMA and WES results in pregnant females with US findings and normal karyotype results from conventional karyotype analysis.

Journal: Case reports in perinatal medicine
Published: December 17, 2024
Showing 1-12 of 27

Last Updated: 09/26/2026