Ozkan Ozdemir

Acibadem, Turkey

Last Updated: 09/26/2026

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Found 26 publications

Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report.

Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report.

Journal: Journal of child neurology
Published: March 16, 2026

Evaluation of Vancomycin Therapeutic Drug Monitoring Strategies: Pharmacokinetic, Pharmacogenetic, and Clinical Perspectives in a Prospective, Real-World Cohort Study.

Evaluation of Vancomycin Therapeutic Drug Monitoring Strategies: Pharmacokinetic, Pharmacogenetic, and Clinical Perspectives in a Prospective, Real-World Cohort Study.

Journal: European journal of clinical pharmacology
Published: February 02, 2026

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches.

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches.

Journal: Frontiers in neurology
Published: November 08, 2025

Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition.

Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition.

Journal: Frontiers in genetics
Published: May 07, 2025

Tonsillar Alpha-Synuclein Accumulation on Parkinson's Disease.

Tonsillar Alpha-Synuclein Accumulation on Parkinson's Disease.

Journal: Noro psikiyatri arsivi
Published: April 09, 2025

Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.

Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis.

Journal: Clinical genetics
Published: February 16, 2025

Urinary Metabolic Profiling During Epileptogenesis in Rat Model of Lithium-Pilocarpine-Induced Temporal Lobe Epilepsy.

Urinary Metabolic Profiling During Epileptogenesis in Rat Model of Lithium-Pilocarpine-Induced Temporal Lobe Epilepsy.

Journal: Biomedicines
Published: January 07, 2025

Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition.

Clinical classification and molecular interpretation of germline pathogenic TP53 variations detected by multigene panel testing in patients with possible cancer predisposition.

Journal: Molecular genetics and genomics : MGG
Published: December 27, 2024

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Journal: Nature genetics
Published: October 21, 2024

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Journal: Cancers
Published: September 02, 2024

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.

Journal: Frontiers in pediatrics
Published: April 05, 2024

The Metabolic Profile of Plasma During Epileptogenesis in a Rat Model of Lithium-Pilocarpine-Induced Temporal Lobe Epilepsy.

The Metabolic Profile of Plasma During Epileptogenesis in a Rat Model of Lithium-Pilocarpine-Induced Temporal Lobe Epilepsy.

Journal: Molecular neurobiology
Published: March 22, 2024
Showing 1-12 of 26

Last Updated: 09/26/2026