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BANU NUR

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AKDENİZ ÜNİVERSİTESİ TIP FAKÜLTESİ DAHİLİ TIP BİLİMLERİ BÖLÜMÜ

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

Kayıtlı çıktılara kısa bakış — ayrıntılar aşağıda.

  • Makale 61
  • Proje 0
  • Kitap 4
  • Bildiri 119
  • Patent 0
  • Sanatsal 0
Scopus (SJR) Q1 12 Q2 22 Q3 18 Q4 2
WoS (JCR) Q1 8 Q2 8 Q3 18 Q4 18
TR Index 11 makale

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

Üst %1 makale 0
Üst %10 makale 3
Ort. yüzdelik 66.0%
Üst %1 payı 0.0%
Üst %10 payı 8.1%

Makaleler

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

Dizin filtreleri

Toplam 61 yayın

Scopus (SJR)
Q1 12 Q2 22 Q3 18 Q4 2
WoS (JCR)
Q1 8 Q2 8 Q3 18 Q4 18
TR Index
11 makale

Makale listesi

  1. 2025 Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1 European Journal of Pediatrics DOI 10.1007/s00431-025-06347-7 YÖKSİS OpenAlex 76.4%
  2. 2025 Association of Certain Biochemical Parameters Related to Bone Cycle with Genotype in MPS III-B Patients Turkish Journal of Medical Sciences DOI 10.55730/1300-0144.5973 YÖKSİS OpenAlex 1.9%
  3. 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%
  4. 2023 Clinical features of generalized lipodystrophy in Turkey: A cohort analysis Diabetes obesity and metabolism DOI 10.1111/dom.15061 YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 91.4%
  5. 2023 Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant The Turkish Journal of Pediatrics DOI 10.24953/turkjped.2022.793 YÖKSİS TR Index SJR Q3 JCR Q4 OpenAlex 67.0%
  6. 2023 The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review American Journal Of medical Genetics Part a DOI 10.1002/AJMG.a.63207 YÖKSİS SJR Q2 JCR Q3 OpenAlex 82.9%
  7. 2022 Novel Gene Variants Associated with Primary Ciliary Dyskinesia Springer Science and Business Media LLC DOI 10.1007/s12098-022-04098-z YÖKSİS SJR Q2 JCR Q1 OpenAlex 79.0%
  8. 2022 Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium Springer Science and Business Media LLC DOI 10.1007/s10142-021-00819-3 YÖKSİS SJR Q2 JCR Q3 OpenAlex 75.1%
  9. 2022 Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA Gene DOI 10.1016/j.gene.2022.146322 YÖKSİS SJR Q2 JCR Q2 OpenAlex 71.5%
  10. 2022 Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects Galenos Yayinevi DOI 10.4274/jpr.galenos.2022.76993 YÖKSİS TR Index SJR Q3 JCR Q4 OpenAlex 8.3%
  11. 2021 Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability Cytogenetic and Genome Research DOI 10.1159/000515368 YÖKSİS SJR Q3 JCR Q4 OpenAlex 67.9%
  12. 2021 Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey American Journal of Medical Genetics Part A DOI 10.1002/ajmg.a.62261 YÖKSİS SJR Q2 JCR Q3 OpenAlex 70.0%
  13. 2020 A clinical scoring system for congenital contractural arachnodactyly GENETICS IN MEDICINE DOI 10.1038/s41436-019-0609-8 YÖKSİS SJR Q1 JCR Q1 OpenAlex 89.3%
  14. 2020 Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism Bone DOI https://linkinghub.elsevier.com/retrieve/pii/S8756328219305150 YÖKSİS SJR Q1 JCR Q2
  15. 2020 Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience JOURNAL OF HUMAN GENETICS DOI 10.1038/s10038-020-00871-0 YÖKSİS SJR Q2 JCR Q3 OpenAlex 73.3%
  16. 2019 TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis GENE DOI 10.1016/j.gene.2019.02.088 YÖKSİS SJR Q1 JCR Q2 OpenAlex 59.6%
  17. 2019 Coronal craniosynostosis due to TCF12 mutations in patients from Turkey AMERICAN JOURNAL OF MEDICAL GENETICS PART A YÖKSİS SJR Q2 JCR Q3
  18. 2019 Recent Advances in Craniosynostosis PEDIATRIC NEUROLOGY YÖKSİS SJR Q1 JCR Q1
  19. 2018 Renal complications of lipodystrophy: A closer look at thenatural history of kidney disease CLINICAL ENDOCRINOLOGY YÖKSİS SJR Q1 JCR Q3
  20. 2018 SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects Nature Communications DOI 10.1038/s41467-018-05191-8 YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 94.8%

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