Sezin Canbek

Uemraniye, Turkey

Last Updated: 09/26/2026

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Found 17 publications

Microscopic Müllerian Duct Remnants in a 46,XY Individual with Genetically Confirmed 17α-Hydroxylase/17,20-Lyase Deficiency: an Unexpected Histopathological Finding.

Microscopic Müllerian Duct Remnants in a 46,XY Individual with Genetically Confirmed 17α-Hydroxylase/17,20-Lyase Deficiency: an Unexpected Histopathological Finding.

Journal: Journal of clinical research in pediatric endocrinology

Published: August 20, 2026

Genomic landscape of ERCC alterations in breast and gynecological cancers: implications for targeted therapy and VUS reclassification.

Genomic landscape of ERCC alterations in breast and gynecological cancers: implications for targeted therapy and VUS reclassification.

Journal: Molecular biology reports

Published: February 19, 2026

Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Journal: European journal of pediatrics

Published: June 17, 2025

Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy

Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy

Journal: Journal of clinical research in pediatric endocrinology

Published: April 24, 2025

Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy.

Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy.

Journal: Journal of clinical research in pediatric endocrinology

Published: April 24, 2025

WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.

WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.

Journal: Molecular syndromology

Published: April 20, 2025

Genetic Profiling of Huntington's Disease: Insights from CAG Repeat Analysis for Precision Diagnosis and Management.

Genetic Profiling of Huntington's Disease: Insights from CAG Repeat Analysis for Precision Diagnosis and Management.

Journal: Noro psikiyatri arsivi

Published: February 07, 2025

Assessment of Genetic Variants Linked to Susceptibility to Mechanical Prosthetic Valve Thrombosis.

Assessment of Genetic Variants Linked to Susceptibility to Mechanical Prosthetic Valve Thrombosis.

Journal: The American journal of cardiology

Published: August 27, 2024

KRAS G12C mutation in NSCLC in a small genetic center: insights into sotorasib therapy response potential.

KRAS G12C mutation in NSCLC in a small genetic center: insights into sotorasib therapy response potential.

Journal: Scientific reports

Published: April 27, 2024

Posterior segment findings in a patient with a CDHR1 biallelic pathogenic variant.

Posterior segment findings in a patient with a CDHR1 biallelic pathogenic variant.

Journal: American journal of ophthalmology case reports

Published: April 26, 2024

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

Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.

Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population.

Journal: Journal of medical virology

Published: May 01, 2022

Showing 1-12 of 17

Last Updated: 09/26/2026