Serdar Bozlak

Basaksehir, 34480, Turkey

Last Updated: 09/26/2026

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Found 12 publications

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

Journal: International journal of molecular sciences

Published: July 09, 2026

Reclassification of PAPSS2 Missense Variants in Turkish Patients with Brachyolmia Type 4: Multi-Modal Computational and Structural Biology Evidence for APS-Kinase Domain Dysfunction.

Reclassification of PAPSS2 Missense Variants in Turkish Patients with Brachyolmia Type 4: Multi-Modal Computational and Structural Biology Evidence for APS-Kinase Domain Dysfunction.

Journal: Medicina (Kaunas, Lithuania)

Published: May 23, 2026

Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.

Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.

Journal: Journal of human genetics

Published: May 21, 2026

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.

Journal: Life (Basel, Switzerland)

Published: February 13, 2026

Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.

Atypical pediatric presentation of hyperparathyroidism: CDC73 gene mutation and parathyroid carcinoma.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: June 29, 2025

Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.

Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.

Journal: Turkish archives of pediatrics

Published: August 03, 2023

A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.

A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.

Journal: Turkish archives of pediatrics

Published: March 01, 2023

Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients.

Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients.

Journal: Cancers

Published: February 10, 2023

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

Journal: Bone

Published: August 11, 2022

The frequency of and factors affecting functional gastrointestinal disorders in infants that presented to tertiary care hospitals.

The frequency of and factors affecting functional gastrointestinal disorders in infants that presented to tertiary care hospitals.

Journal: European journal of pediatrics

Published: February 22, 2021

Cervical lymphadenopathies in children: A prospective clinical cohort study.

Cervical lymphadenopathies in children: A prospective clinical cohort study.

Journal: International journal of pediatric otorhinolaryngology

Published: September 03, 2015

Pelvic ultrasound findings in prepubertal girls with precocious adrenarche born appropriate for gestational age.

Pelvic ultrasound findings in prepubertal girls with precocious adrenarche born appropriate for gestational age.

Journal: Clinical endocrinology

Published: April 19, 2013

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Last Updated: 09/26/2026