Academician profile · DOÇENT
ÖZLEM AKGÜN DOĞAN
ACIBADEM MEHMET ALİ AYDINLAR ÜNİVERSİTESİ
- Ana Dal Sağlık Bilimleri Temel Alanı
- Yan Dal Çocuk Genetik Hastalıkları (Çocuk Sağlığı ve Hastalıkları)
- TIP FAKÜLTESİ
- DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Scopus (SJR)
Q1
21
Q2
25
Q3
8
Q4
8
WoS (JCR)
Q1
12
Q2
12
Q3
23
Q4
15
TR Index
12
articles
Articles
- 2025 Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome
- 2025 Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutation
- 2025 Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia
- 2024 Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease
- 2024 Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant
- 2023 Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
- 2022 Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene
- 2022 Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels
- 2022 Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1
- 2022 COVID-19 PCR test performance on samples stored at ambient temperature
- 2022 Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer
- 2022 Genetik Hastalık Şüphesi Olan Fetal ve Pediatrik Hastalarda Moleküler Otopsinin Klinik Faydası
- 2022 Evaluation and Long-term Monitoring of Patients with MODY, and Description of Novel Mutations
- 2022 Evaluation of Clinical and Molecular Findings in a Group of Turkish Individuals with Marfan Syndrome
- 2021 Diagnostic yield of whole exome sequencing in nonsyndromic intellectual disability
- 2021 Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases
- 2021 The same mutation in a family with adenosine deaminase 2 deficiency
- 2021 Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum
- 2021 Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient
- 2021 Kohlschutter-Tonz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity