Faculty / Medical Geneticists

Firdevs Dinçsoy-Bir

Medical Genetics Specialist

Department: Department of Medical Genetics, Ankara Etlik City Hospital

Departmental publications

Records from the department’s publication database linked to this researcher. The count above and this list come from the same index as the Publications page, so the figure matches that page’s author filter exactly. 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

ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance

Ahmet Kablan, Abdullah Sezer, Atakan Deniz, Elifcan Taşdelen, Firdevs Dinçsoy Bir, Abdulkerim Kolkıran, Melike Ataseven Kulali, Kerem Teralı, Emregül Işık

Diagnostics · 2026

DOI PubMed

Clinical and Genetic Heterogeneity of Triple A Syndrome: A Multicenter Study

Dilek Çelebi, Aslıhan Kiraz, Zakhiriddin Khojakulov, Ayse Caglar Sarilar, Müşerref Başdemirci, Elif Yılmaz Güleç, Özlem Öz, İrem Kalay, Mustafa Dogan, Bilgen Bilge Geçkinli, İpek Sahin, Mustafa Yakubi, Leyla Nur Yilmaz, Elifcan Taşdelen, Aslı Çıplaklıgil, Alper Gezdirici, Friederike Quitter, Esra Hilal Ceylan, Aydeniz Aydın Gümüş, Katrin Koehler, Abdulkerim Kolkıran, Firdevs Dinçsoy Bir, Tülay Güran, Hasan Önal, Huebner Angela, Nazlı A. Başak, Munis Dündar

Hormone Research in Paediatrics · 2026

DOI PubMed

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

Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients

Abdulkerim Kolkıran, Melike Ataseven Kulali, Tuğba Daşar, Firdevs Dinçsoy Bir, Ahmet Kablan, Şükriye Yılmaz, Alişan Daylak, Şule YEŞİL, Gürses Şahin

Acta haematologica oncologica Turcica. · 2026

DOI

Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant

Abdulkerim Kolkıran, Firdevs Dinçsoy Bir, Bilgesu Arıkan Ergün, Alişan Daylak, Mehmet Çıtırık, Melike Ataseven Kulali

Molecular Syndromology · 2026

DOI PubMed

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

Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients

Abdulkerim Kolkıran, Melike Ataseven Kulali, Tuğba Daşar, Abdullah Sezer, Melikşah Keskın, Senay Savas-Erdeve, Erdal Kurnaz, Elifcan Taşdelen, Mustafa Tarık Alay, Berna Uçan, Mehmet Can Pence, Muhammed Erkan Emrahoğlu, Ahmet Kablan, Firdevs Dinçsoy Bir, Hanife Saat, Ayşe Derya Buluş, Nihan Solmaz

Hormone Research in Paediatrics · 2026

DOI PubMed

When the Clinical Picture Demands More: Dual Diagnosis of Neurofibromatosis Type 1 and Auriculocondylar Syndrome 2A in a Pediatric Case

Abdulkerim Kolkıran, Firdevs Dinçsoy Bir, Melike Ataseven Kulali, Hasibe Gökçe Çınar, Göknur Topaloğlu Yasan, Hakan Hıfzı Tüz, Mehmet Çıtırık, Hale SANDIKÇI İSKENDERLİ, Ergin Atasoy

Molecular Syndromology · 2026

DOI PubMed

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

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

Eyyüp Üçtepe, Nefise Kandemir, Firdevs Dinçsoy Bir, Asuman Nur Karhan, Sait Tümer, Emine Busra Ondes, Bahadır Konuşkan, Ahmet Yeşilyurt

Molecular Syndromology · 2024

DOI PubMed