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akaturk Akademik ölçüm

Akademisyen profili · PROFESÖR

GÖZDE YEŞİL SAYIN

İSTANBUL ATLAS ÜNİVERSİTESİ

  • TIP FAKÜLTESİ
  • DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Makale YÖKSİS 128
Proje 1
Kitap 2
Bildiri 55
Patent 1
Sanatsal 1
Scopus (SJR)
Q1 54 Q2 32 Q3 19 Q4 14
WoS (JCR)
Q1 32 Q2 25 Q3 27 Q4 37
TR Index 20 makale

Scopus (SJR)

WoS (JCR)

TR Index

20 makale

Toplam 128 yayın

Makaleler

  1. 2026 OncoRisk: a state-of-the-art web server for bridging the oncogenic databases and pan-cancer cohorts to the translational oncology COMMUNICATIONS BIOLOGY DOI 10.1038/s42003-026-10005-5
  2. 2025 Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye JOURNAL OF COMMUNITY GENETICS DOI 10.1007/s12687-025-00821-3
  3. 2025 Impact of a Missense Mutation in TRAPPC12 in Patients with Phenotype without Microcephaly and Epilepsy EXPERIMED DOI 10.26650/experimed.1584823
  4. 2025 Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis BIRTH DEFECTS RESEARCH DOI 10.1002/bdr2.2444
  5. 2024 A novel RNPC3 gene variant expands the phenotype in patients with congenital hypopituitarism and neuropathy HORMONE RESEARCH IN PAEDIATRICS DOI 10.1159/000532000
  6. 2024 Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10 PEDIATRIC NEUROLOGY DOI 10.1016/j.pediatrneurol.2024.05.017
  7. 2024 Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures CLINICAL GENETICS DOI 10.1111/cge.14490
  8. 2024 Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia MOVEMENT DISORDERS DOI 10.1002/mds.29754
  9. 2024 Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy INTERNATIONAL JOURNAL OF NEUROSCIENCE DOI 10.1080/00207454.2023.2221814
  10. 2023 Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations ARCHIVES OF EPILEPSY DOI 10.4274/ArchEpilepsy.2023.23082
  11. 2023 ASSOCIATING eNOS GENE VARIANTS WITH COVID-19 SUSCEPTIBILITY IN THE TURKISH POPULATION JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI DOI 10.26650/IUITFD.1211888
  12. 2023 Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies BRAIN COMMUNICATIONS DOI 10.1093/braincomms/fcad222
  13. 2023 Clinical and Molecular Findings of Nine Cases with Tay- Sachs Disease From Turkiye MEDICAL JOURNAL OF BAKIRKOY DOI 10.4274/BMJ.galenos.2023.2022.9-10
  14. 2023 Clinical, Radiological, and Molecular Findings in Cases with TRAPPopathies JOURNAL OF CHILD - COCUK DERGISI DOI 10.26650/jchild.2023.1294229
  15. 2023 The effect of DNA repair gene variants on COVID-19 disease: susceptibility, severity, and clinical course NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS DOI 10.1080/15257770.2023.2172183
  16. 2023 The effect of hereditary thrombotic factors and comorbidities on the severity of COVID-19 disease EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES
  17. 2022 Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype CLINICAL GENETICS DOI 10.1111/cge.14117
  18. 2022 A novel mutation in the TRIP11 gene: Diagnostic approach from relatively common skeletal dysplasias to an extremely rare Odontochondrodysplasia Journal of Clinical Research in Pediatric Endocrinology DOI 10.4274/jcrpe.galenos.2021.2021.0099
  19. 2022 Action myoclonus-renal failure syndrome: Electrophysiological analysis and clinical progression of two siblings PARKINSONISM & RELATED DISORDERS DOI 10.1016/j.parkreldis.2022.04.023
  20. 2022 Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy Orphanet journal of rare diseases DOI 10.1186/s13023-022-02483-7

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