Faculty / Medical Geneticists

Firdevs Dinçsoy-Bir

Medical Genetics Specialist

Department: Department of Medical Genetics, Ankara Etlik City Hospital

Publications listing this author

Records from the department’s publication database whose author list includes this name. Author strings are reproduced from the source record and are not rewritten.

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey

Kolkıran A; Sarıkaya Özdemir B; Sezer A; Kulalı MA; Daşar T; Savaş Erdeve Ş; Alay MT; Uçan B; Kablan A; Taşdelen E; Dinçsoy Bir F; et al.

American Journal of Medical Genetics Part A · 2026

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 Cases

Kablan A; Sezer A; Bakır A; Güneş AK; Taşdelen E; Dinçsoy Bir F; Erdem HB; Saat H; Erdal H; Alay MT; Coşkun Y

The Eurasian Journal of Medicine · 2026

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye

Kablan A; Bakır A; Taşdelen E; Dinçsoy Bir F; Kolkıran A; Kulalı MA; Atasoy E; Menderes D; Efe A; Kılıç M; Erdal İ

The Turkish Journal of Pediatrics · 2026

DOI PubMed

Rare Disease Genetics Cytogenomics & Structural Variation

Decoding Genomic Variants in a Turkish Cohort of Patients with Spasticity

Bakir A; Saat H; Erdem HB; Sezer A; Tasdelen E; Dincsoy-Bir F; Önder H; Çomoglu SS; Kazan HH

Bratislava Medical Journal · 2025

DOI

Rare Disease Genetics Neurogenetics & Neurodevelopmental Disorders

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye

Dinçsoy Bir F et al.

Molecular Syndromology · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye

Kablan A; Sezer A; Bakır A; Taşdelen E; Dinçsoy Bir F; Erdem HB; Saat H; Alay MT; et al.

Clinical Genetics · 2025

DOI PubMed

Rare Disease Genetics Cytogenomics & Structural Variation

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL

Kilic M; Yildiz H; Dincsoy-Bir F

The Turkish Journal of Pediatrics · 2025

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics