Ozgur Kırbıyık

Izmir, Turkey

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.

Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 21, 2026

Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population.

Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population.

Journal: Familial cancer

Published: March 11, 2026

FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI.

FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI.

Journal: Journal of clinical research in pediatric endocrinology

Published: November 17, 2025

Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.

Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.

Journal: Annals of human genetics

Published: May 27, 2025

Prenatal Diagnosis of HSPG2-Related Dyssegmental Dysplasia: The First Report From Turkey.

Prenatal Diagnosis of HSPG2-Related Dyssegmental Dysplasia: The First Report From Turkey.

Journal: American journal of medical genetics. Part A

Published: April 17, 2025

Atypical Presentation and Course of ACTH-Independent Cushing’s Syndrome in Two Families

Atypical Presentation and Course of ACTH-Independent Cushing’s Syndrome in Two Families

Journal: Journal of clinical research in pediatric endocrinology

Published: December 12, 2023

Atypical Presentation and Course of ACTH-independent Cushing's Syndrome in Two Families.

Atypical Presentation and Course of ACTH-independent Cushing's Syndrome in Two Families.

Journal: Journal of clinical research in pediatric endocrinology

Published: December 12, 2023

Anaemia-based screening for resistance to thyroid hormone alpha in children.

Anaemia-based screening for resistance to thyroid hormone alpha in children.

Journal: Clinical endocrinology

Published: September 12, 2023

Investigation of EGFR and ALK mutation frequency and treatment results in advanced non-small cell lung cancer.

Investigation of EGFR and ALK mutation frequency and treatment results in advanced non-small cell lung cancer.

Journal: Journal of cancer research and therapeutics

Published: May 06, 2023

Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.

Journal: The Turkish journal of pediatrics

Published: May 25, 2022

Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia.

Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia.

Journal: The Turkish journal of pediatrics

Published: June 20, 2020

The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis.

The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis.

Journal: The clinical respiratory journal

Published: April 07, 2020

Showing 1-12 of 18

Last Updated: 09/26/2026