Sevcan T. Bozdogan

Adana, 01330, Turkey

Last Updated: 09/26/2026

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Found 43 publications

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience.

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience.

Journal: Children (Basel, Switzerland)

Published: August 24, 2025

Clinical and Genetic Spectrum of Titinopathy: A Turkish Pediatric Case Series.

Clinical and Genetic Spectrum of Titinopathy: A Turkish Pediatric Case Series.

Journal: Neuro endocrinology letters

Published: August 10, 2025

Hereditary thrombophilia parameters in children with autism spectrum disorder and their mothers.

Hereditary thrombophilia parameters in children with autism spectrum disorder and their mothers.

Journal: Frontiers in pediatrics

Published: August 06, 2025

Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.

Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.

Journal: Calcified tissue international

Published: August 05, 2025

Clinicoradiologic Features and Genetic Findings of Infantile Neuroaxonal Dystrophy.

Clinicoradiologic Features and Genetic Findings of Infantile Neuroaxonal Dystrophy.

Journal: Journal of child neurology

Published: August 04, 2025

Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.

Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.

Journal: Genes

Published: June 27, 2025

FCGR2A Gene Polymorphism Association in Children with Multisystem Inflammatory Syndrome.

FCGR2A Gene Polymorphism Association in Children with Multisystem Inflammatory Syndrome.

Journal: Indian pediatrics

Published: October 16, 2024

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 19, 2024

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.

Journal: Molecular syndromology

Published: June 29, 2023

CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye.

CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye.

Journal: Journal of pediatric genetics

Published: January 31, 2023

Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling.

Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling.

Journal: Molecular syndromology

Published: January 02, 2023

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Journal: Journal of medical virology

Published: December 09, 2022

Showing 1-12 of 43

Last Updated: 09/26/2026