Busranur E. Cavdarlı

Ankara, Turkey

Last Updated: 09/26/2026

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Found 47 publications

Association study of optineurin gene polymorphisms T34T and M98K with normal tension glaucoma in a Turkish cohort.

Association study of optineurin gene polymorphisms T34T and M98K with normal tension glaucoma in a Turkish cohort.

Journal: Scientific reports

Published: January 02, 2026

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Journal: Clinical genetics

Published: December 27, 2025

MLPA-Detected CFTR Exon Deletions in Children With Inconclusive CFTR Sequencing: A Single-Center Experience From Türkiye.

MLPA-Detected CFTR Exon Deletions in Children With Inconclusive CFTR Sequencing: A Single-Center Experience From Türkiye.

Journal: Pediatric pulmonology

Published: August 21, 2025

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Journal: European journal of medical genetics

Published: August 02, 2025

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

Journal: American journal of medical genetics. Part A

Published: June 25, 2025

A Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study.

A Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study.

Journal: Medicina (Kaunas, Lithuania)

Published: May 29, 2025

Thick Corpus Callosum: An Unusual Finding of TUBGCP2-Related Tubulinopathy.

Thick Corpus Callosum: An Unusual Finding of TUBGCP2-Related Tubulinopathy.

Journal: American journal of medical genetics. Part A

Published: April 26, 2025

Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta

Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta

Journal: Journal of clinical research in pediatric endocrinology

Published: December 23, 2024

Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.

Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: July 21, 2024

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Journal: Annals of clinical and translational neurology

Published: May 22, 2024

A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.

A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.

Journal: The Turkish journal of pediatrics

Published: May 04, 2024

The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience.

The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience.

Journal: The Turkish journal of pediatrics

Published: May 01, 2024

Showing 1-12 of 47

Last Updated: 09/26/2026