Gozde Yesil

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 93 publications

Molecular Analysis of SCN1A Gene Variants Associated with Dravet Syndrome: Implications for Diagnosis and Management.

Molecular Analysis of SCN1A Gene Variants Associated with Dravet Syndrome: Implications for Diagnosis and Management.

Journal: Turkish archives of pediatrics

Published: August 01, 2026

A Novel GATA2 Splice-Site Mutation Associated with Familial Myelodysplastic Syndrome.

A Novel GATA2 Splice-Site Mutation Associated with Familial Myelodysplastic Syndrome.

Journal: Pediatric allergy, immunology, and pulmonology

Published: July 01, 2026

Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy.

Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy.

Journal: Journal of neuromuscular diseases

Published: March 29, 2026

GenRiskPro: A Comprehensive Whole-Genome Sequencing Analysis Platform for Clinical and Wellness Applications.

GenRiskPro: A Comprehensive Whole-Genome Sequencing Analysis Platform for Clinical and Wellness Applications.

Journal: Computational and structural biotechnology journal

Published: November 08, 2025

OncoRisk: a state-of-the-art web server for bridging the oncogenic databases and pan-cancer cohorts to the translational oncology.

OncoRisk: a state-of-the-art web server for bridging the oncogenic databases and pan-cancer cohorts to the translational oncology.

Journal: Communications biology

Published: November 05, 2025

A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.

A Novel Phosphoglucomutase-3 Gene Variant Causing Milder Phenotype in Two Families.

Journal: Journal of clinical immunology

Published: October 07, 2025

Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

Journal: Endocrine

Published: May 04, 2025

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 01, 2023

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Journal: Pediatric neurology

Published: September 10, 2023

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.

Journal: Pediatric neurology

Published: August 21, 2023

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

Journal: Nucleic acids research

Published: July 12, 2023

Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.

Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.

Journal: The International journal of neuroscience

Published: June 03, 2023

Showing 1-12 of 93

Last Updated: 09/26/2026