Academician profile · PROFESÖR
GÜLEN EDA ÜTİNE
- Ana Dal Sağlık Bilimleri Temel Alanı
- Yan Dal Çocuk Sağlığı ve Hastalıkları (Çocuk Sağlığı ve Hastalıkları)
- TIP FAKÜLTESİ
- DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Scopus (SJR)
Q1
50
Q2
57
Q3
31
Q4
9
WoS (JCR)
Q1
31
Q2
21
Q3
46
Q4
46
TR Index
18
articles
Articles
- 2026 Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation
- 2025 Non-Hodgkin lymphoma in Williams syndrome: A coincidence or an association?
- 2025 Desbuquois dysplasia and cardiovascular complications: a retrospective cohort study
- 2025 Correspondence on “Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder” by Rawlins et al
- 2025 First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations
- 2025 Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort
- 2025 Ophthalmological and Orthoptic Findings in Down Syndrome: Is Genotype-Phenotype Correlation Possible?
- 2025 Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals
- 2025 ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report
- 2025 Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia
- 2025 From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families
- 2025 A Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature
- 2025 Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome
- 2025 Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia
- 2025 A Case of Opsismodysplasia with a Novel INPPL1 Variant
- 2024 AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysis
- 2024 Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2
- 2024 Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families
- 2024 Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome
- 2024 CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case