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ESRA IŞIK

DOÇENT

EGE ÜNİVERSİTESİ TIP FAKÜLTESİ DAHİLİ TIP BİLİMLERİ BÖLÜMÜ

  • Ana Dal Sağlık Bilimleri Temel Alanı
  • Yan Dal Çocuk Genetik Hastalıkları (Çocuk Sağlığı ve Hastalıkları)

Kayıtlı çıktılara kısa bakış — ayrıntılar aşağıda.

  • Makale 83
  • Proje 0
  • Kitap 6
  • Bildiri 68
  • Patent 0
  • Sanatsal 0
Scopus (SJR) Q1 15 Q2 37 Q3 17 Q4 10
WoS (JCR) Q1 4 Q2 13 Q3 30 Q4 30
TR Index 20 makale

Alan+yıl+tür normalize OpenAlex yüzdelik — Clarivate ESI / SciVal değildir.

Üst %1 makale 0
Üst %10 makale 2
Ort. yüzdelik 52.9%
Üst %1 payı 0.0%
Üst %10 payı 2.9%

Makaleler

YÖKSİS ve OpenAlex kaynak ayrımıyla makaleler; quartile ve TR Index ile daraltabilirsiniz.

Dizin filtreleri

Toplam 83 yayın

Scopus (SJR)
Q1 15 Q2 37 Q3 17 Q4 10
WoS (JCR)
Q1 4 Q2 13 Q3 30 Q4 30
TR Index
20 makale

Makale listesi

  1. 2026 Electroclinical predictors for drug-resistant epilepsy and outcome in tuberous sclerosis complex: a single center pediatric cohort Acta Neurologica Belgica DOI 10.1007/s13760-026-03067-z YÖKSİS SJR Q2 JCR Q3 OpenAlex 34.8%
  2. 2026 Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies Journal of Medical Genetics DOI 10.1136/jmg-2026-111485 YÖKSİS SJR Q1 JCR Q2 OpenAlex 40.2%
  3. 2026 Analysis of fetal DNA in biological samples derived from maternal exhaled breath Journal of Breath Research DOI 10.1088/1752-7163/ae8ffa YÖKSİS SJR Q3 JCR Q2 OpenAlex 79.5%
  4. 2026 Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients Clinical Genetics DOI 10.1111/cge.70225 YÖKSİS SJR Q2 JCR Q3 OpenAlex üst %10 OpenAlex 90.3%
  5. 2025 Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals American Journal of Medical Genetics Part A DOI 10.1002/ajmg.a.64128 YÖKSİS SJR Q2 JCR Q4 OpenAlex 84.6%
  6. 2025 Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients Neuromuscular Disorders DOI 10.1016/j.nmd.2025.105423 YÖKSİS SJR Q1 JCR Q2 OpenAlex 88.8%
  7. 2025 Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience Journal of Clinical Research in Pediatric Endocrinology DOI 10.4274/jcrpe.galenos.2025.2025-1-18 YÖKSİS TR Index SJR Q2 JCR Q2 OpenAlex 6.5%
  8. 2025 Next generation sequencing in children with isolated congenital cataract European Journal of Ophthalmology DOI 10.1177/11206721251340844 YÖKSİS SJR Q2 JCR Q3 OpenAlex 5.6%
  9. 2025 Strengthening the candidacy of the ITSN1 gene: a novel de novo variant in a patient with autism spectrum disorder International Journal of Developmental Disabilities DOI 10.1080/20473869.2025.2552735 YÖKSİS SJR Q2 JCR Q3 OpenAlex 29.2%
  10. 2025 Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey American Journal of Medical Genetics Part A DOI 10.1002/ajmg.a.64174 YÖKSİS SJR Q2 JCR Q4 OpenAlex 14.0%
  11. 2025 Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2‐Related Disorders Birth Defects Research DOI 10.1002/bdr2.2491 YÖKSİS SJR Q2 JCR Q3 OpenAlex 74.9%
  12. 2025 A New Unc45a 5utr Variant In Patients With Aagenaes Syndrome American Journal of Medical Genetics Part A DOI 10.1002/ajmg.a.64004 YÖKSİS SJR Q2 JCR Q4 OpenAlex 0.9%
  13. 2025 Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patients Blood Coagulation & Fibrinolysis DOI 10.1097/MBC.0000000000001381 YÖKSİS SJR Q3 JCR Q4 OpenAlex 20.4%
  14. 2025 Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series The Lancet Neurology DOI 10.1016/S1474-4422(25)00198-X YÖKSİS SJR Q1 JCR Q1 OpenAlex 59.2%
  15. 2025 Molecular insights into genodermatoses: Genetic findings from 43 patients Archives of Dermatological Research DOI 10.1007/s00403-025-04056-7 YÖKSİS SJR Q1 JCR Q2 OpenAlex 58.0%
  16. 2024 Scientific Business Abstracts QJM: An International Journal of Medicine DOI 10.1093/qjmed/hcae157 YÖKSİS SJR Q3 JCR Q1 OpenAlex 14.3%
  17. 2024 From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi‐System Involvement American Journal of Medical Genetics Part A DOI 10.1002/ajmg.a.63934 YÖKSİS SJR Q2 JCR Q3 OpenAlex 11.7%
  18. 2024 Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis European Journal of Haematology DOI 10.1111/ejh.14194 YÖKSİS SJR Q1 JCR Q2 OpenAlex 65.3%
  19. 2024 The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era Pediatric Neurology DOI 10.1016/j.pediatrneurol.2024.05.018 YÖKSİS SJR Q1 JCR Q2 OpenAlex 76.8%
  20. 2024 Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application BMC Medical Genomics DOI 10.1186/s12920-024-02015-1 YÖKSİS SJR Q3 JCR Q3 OpenAlex üst %10 OpenAlex 90.4%

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