Academician profile · DOKTOR ÖĞRETİM ÜYESİ
EZGİ GÖKPINAR İLİ
- Ana Dal Sağlık Bilimleri Temel Alanı
- Yan Dal Tıbbi Genetik
- TIP FAKÜLTESİ
- DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Scopus (SJR)
Q1
5
Q2
8
Q3
4
Q4
1
WoS (JCR)
Q1
5
Q2
2
Q3
5
Q4
6
TR Index
0
articles
Articles
- 2025 Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease
- 2025 Meckel–Gruber syndrome due to homozygous c.16del (p.Leu6SerfsTer15) variant in the TCTN1: first case from Türkiye
- 2025 Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion
- 2024 Diagnostic challenges in a family with dominant dystrophic epidermolysis bullosa and isolated hereditary nail disorder: paternal gonosomal mosaicism for COL7A1 variant and maternal RSPO4 variant
- 2024 A novel variant of the STAR gene: nonclassical presentation from Turkey
- 2023 Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
- 2023 A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy
- 2023 A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
- 2023 Perception and management of cancer predisposition in pediatric cancer centers: A European‐wide questionnaire‐based survey
- 2022 Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature
- 2022 Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome
- 2022 Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)
- 2021 A Rare Cause of Syncope Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene
- 2021 Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance
- 2021 Hereditary Breast-Ovarian Cancer and BRCA1 / BRCA2 variants: a single center experience
- 2020 Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa
- 2020 New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis
- 2019 Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature
- 2019 Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case–control study
- 2019 Optimizing the transport and storage conditions of current Good Manufacturing Practice-grade human umbilical cord mesenchymal stromal cells for transplantation (HUC-HEART Trial)