Makaleler
19
Tümü (19)
SCI-E, SSCI, AHCI (16)
SCI-E, SSCI, AHCI, ESCI (17)
ESCI (1)
Scopus (17)
TRDizin (3)
5. A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.191, sa.1, ss.173-182, 2023 (SCI-Expanded, Scopus)
11. Effects of thymoquinone in prevention of experimental contrast-induced nephropathy in rats.
Iranian journal of basic medical sciences
, cilt.22, sa.12, ss.1432-1439, 2019 (SCI-Expanded, Scopus)
17. NF1 gene variant allele frequencies comparison of Turkish population with databases
Journal Of Biotechnology
, 2017 (SCI-Expanded, Scopus)
19. Comparison of Different Dialysis Modalities in End-Stage Renal Disease Patients with Acute Dialysis Requirement
TURKISH NEPHROLOGY DIALYSIS AND TRANSPLANTATION JOURNAL
, cilt.26, sa.3, ss.298-304, 2017 (ESCI, Scopus, TRDizin)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
28
1. A novel variant in the EFTUD2 gene is associated with mandibulofacial dysostosis with microcephaly in a Turkish patient and her mother
V. Uluslararası Erciyes Tıp Genetik Günleri, 20 - 22 Şubat 2020, cilt.31, (Özet Bildiri)
2. A novel variant in the SLC2A2 gene associated with glycogen storage disease type XI
V. Uluslararası Erciyes Tıp Genetik Günleri, 20 - 22 Şubat 2020, cilt.31, (Özet Bildiri)
8. A novel missense variant in the homogentisate 1,2-dioxygenase (HGD) gene in a patient with clinical symptoms of alkaptonuria.
13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, cilt.22, ss.166, (Özet Bildiri)
18. GENERAL REVIEW OF STATISTICAL DATA IN FMF DISEASEAND GENOTYPE-PHENOTYPE CORRELATION
ERCİYES MEDİCAL GENETİCS DAYS 2017, Türkiye, 11 - 13 Mayıs 2017, (Özet Bildiri)
22. Lack of amplification in next generation sequencing? Check for deletions.
European Conference of Human Genetics 2016, Barselona, İspanya, 21 - 24 Mayıs 2016, cilt.24, ss.475-476, (Özet Bildiri)
23. Guidelines for the evaluation of the sequence variants
Medical Genetics and Clinical Applications (with International Participation) Congress, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.20, (Özet Bildiri)
24. A RARE CASE OF 14Q31 DELETION LOSS OF NRXN3 GENE IN PATIENT DIAGNOSED WITH AUTISM SPECTRUM DISORDER
ULUSLARARASI KATKILI GEVHER NESİBE TIP GÜNLERİ 2016, Türkiye, 11 - 13 Şubat 2016
25. DETERMINATION OF DELETIONS WITH LACK OF AMPLIFICATION IN NEXT GENERATION SEQUENCING
ULUSLARARASI KATKILI GEVHER NESİBE TIP GÜNLERİ 2016, Türkiye, 11 - 13 Şubat 2016
Kitaplar
3
1. Yoğun Bakım Genomiği
YOĞUN BAKIM, PROF.DR. IŞIL ÖZKOÇAK TURAN, PROF.DR. VOLKAN HANCI, Editör, AKADEMİSYEN KİTAP EVİ (LANGE), Ankara, ss.1067-1084, 2018
2. YENİ NESİL DİZİLEME TEKNOLOJİLERİ
GÜNCEL BİYOTEKNOLOJİ VE UYGULAMALARI, Dündar M., Bağış H., Editör, Erciyes Üniversitesi Yayınları, Kayseri, ss.371-394, 2017
3. Bireysel Tıp
Tıbbi Genetik ve Klinik Uygulamaları, munis dündar, Editör, mgrup matbaacılık, Kayseri, ss.1147-1162, 2016
