Makaleler
21
Tümü (21)
SCI-E, SSCI, AHCI (15)
SCI-E, SSCI, AHCI, ESCI (16)
ESCI (1)
Scopus (16)
TRDizin (8)
Diğer Yayınlar (1)
5. Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
, cilt.45, sa.5, ss.2271-2277, 2024 (SCI-Expanded, Scopus)
7. Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.
The International journal of neuroscience
, cilt.134, sa.10, ss.1040-1045, 2024 (SCI-Expanded, Scopus)
8. Novel Genetic Insights into Lateral Temporal Lobe Epilepsy: Findings from Whole Exome Sequencing
NOROPSIKIYATRI ARSIVI
, cilt.0, 2024 (SCI-Expanded, Scopus, TRDizin)
10. Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
, cilt.44, sa.7, ss.2527-2540, 2023 (SCI-Expanded, Scopus)
12. Evaluation of miR-145 and miR-146a as potential biomarkers for diagnosis of Myelodysplastic Syndrome
Acta Medica Nicomedia
, cilt.5, sa.2, ss.61-66, 2022 (TRDizin)
17. The utility of serum miRNA-93 and miRNA-191 levels for determining injury severity in adults with multiple blunt trauma.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTES
, cilt.27, sa.6, ss.631-638, 2021 (SCI-Expanded, Scopus, TRDizin)
20. Effects of Methylprednisolone in the Treatment of Spinal Cord Injuries by Evaluation of microRNA-21: An Experimental Study
JOURNAL OF NEUROLOGICAL SURGERY PART A-CENTRAL EUROPEAN NEUROSURGERY
, cilt.84, sa.3, ss.240-246, 2021 (SCI-Expanded, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
19
1. Unraveling the genetic complexity of neurodevelopmental disorders: insights from autosomal recessive and de novo variants in a consanguineous family
European Human Genetics Conference, Milan, İtalya, 24 - 27 Mayıs 2025, (Özet Bildiri)
2. Biallelic loss-of-function of a tRNA modification gene leads to impaired shoaling behavior and decreased startle response in zebrafish
European Human Genetics Conference 2024, Berlin, Almanya, 1 - 04 Haziran 2024, ss.0-1, (Özet Bildiri)
3. Mitokondriyal-Membran Proteini İlişkili Nörodejenerasyona Neden Olan C19orf12 Geni 5’UTR Varyantının İn Siliko Analizleri
1. Nörogenetik ve Nörometabolizma Kongresi, İstanbul, Türkiye, 9 - 11 Mayıs 2024, (Yayınlanmadı)
5. Evaluation of anticancer effects of MAPK6 siRNA loaded PLGA nanoparticles in breast cancer
European Human Genetics Conference 2023, Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.0-2, (Özet Bildiri)
6. MAPK6 genini hedefleyen siRNA yüklü PLGA nanopartiküllerinin meme kanseri hücre dizilerinde antikanser etkilerinin değerlendirilmesi
5th International Eurasian Conference on Biological and Chemical Sciences (EurasianBioChem 2022), Türkiye, 23 Kasım 2022, (Özet Bildiri)
8. Two candidate genes with biallelic variants associated with a neurodevelopmental disorder in a consanguineous family from Turkey
European Human Genetics Conference 2022, Vienna, Avusturya, 11 - 14 Haziran 2022, (Yayınlanmadı)
10. Tüm ekzom dizileme ve hedefe yönelik derin dizileme analizleri ile nadir nörodejeneratif bir hastalıkta mozaikliğin tespiti
XIII. Aziz Sancar DETAE Günleri, İstanbul, Türkiye, 21 - 22 Aralık 2021, (Özet Bildiri)
12. İzole servikal distonilerde THAP1, GNAL, KMT2B ve ANO3 genlerine etkiyen miRNA’ların anlatımlarının incelenmesi ve aday biyobelirteç belirlenmesi
57. Ulusal Nöroloji Kongresi, Antalya, Türkiye, 27 Kasım - 01 Aralık 2021, (Özet Bildiri)
13. İdiyopatik jeneralize epilepsi tanılı hastalarda miR-132, miR-146a ve miR-155’in biyobelirteç potansiyellerinin incelenmesi
57. Ulusal Nöroloji Kongresi, Antalya, Türkiye, 27 Kasım - 01 Aralık 2021, (Özet Bildiri)
14. Novel WDR45 frameshift variant detected by whole-exome sequencing in beta-propeller protein-associated neurodegeneration disease
European Human Genetics Conference (Virtual) 2021, 28 Ağustos 2021, (Özet Bildiri)
16. Otozomal resesif nörogelişimsel bozukluğun nedeni olarak bi-alelik NALCN varyantı
"Uluslararası Katılımlı" 14. Ulusal Tıbbi Genetik Kongresi, 20 - 22 Kasım 2020, (Özet Bildiri)
17. Biallelic NALCN variant detected by homozygosity mapping and whole exome sequencing in a consanguineous family from Turkey
European Human Genetics Virtual Conference (ESHG 2020.2), Berlin, Almanya, 6 - 09 Haziran 2020, (Özet Bildiri)
18. Miyelodisplastik sendromda miR145/146a’nın TGF- β sinyal yolağındaki rolü ve 5q delesyonu ile ilişkisinin incelenmesi
"Uluslararası Katılımlı" 16. Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 Ekim 2019, ss.169, (Özet Bildiri)
19. Possible effects of caffeic acid phenethyl ester and thymoquinone against toluene brain injury
20th National Congress of Anatomy, İstanbul, Türkiye, 27 - 31 Ağustos 2019, (Özet Bildiri)