Investigation on the effects of modifying genes on the spinal muscular atrophy phenotype D Zhuri, H Gurkan, D Eker, Y Karal, S Yalcintepe, E Atli, S Demir, EI Atli Global Medical Genetics 9 (03), 226-236, 2022 | 11 | 2022 |
Investigation the relationship of autism spectrum disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 genes S Yalcintepe, I Görker, S Demir, EI Atli, A Engin, H Tozkir, SÜT Necdet, ... Archives of Neuropsychiatry 58 (3), 171, 2021 | 6 | 2021 |
Functional analysis of MMR gene VUS from potential Lynch syndrome patients M Mahdouani, D Zhuri, H Sezginer Guler, D Hmida, M Sana, M Azaza, ... Plos one 19 (6), e0304141, 2024 | 2 | 2024 |
A case of Okur-Chung neurodevelopmental syndrome with a novel, de novo variant on the csnk2a1 gene in a Turkish patient D Zhuri, F Dusenkalkan, G Tunca Alparslan, H Gurkan Molecular Syndromology 15 (1), 43-50, 2024 | 2 | 2024 |
The possible role of epigenetics in the etiology of hypospadias DA Sadettin Yıldız, İrem İnanç, Drenushe Zhurı, Engin Atlı Journal of Pediatric Urology, 2024 | 2 | 2024 |
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del (11)(q24q25) S Yalcintepe, D Zhuri, H Sezginer Guler, E Atli, S Demir, EI Atli, C Mail, ... Molecular Syndromology 13 (3), 235-239, 2022 | 2 | 2022 |
Germline pathogenic variants identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma S Yalcintepe, H Gurkan, FN Korkmaz, S Demir, E Atli, D Eker, HS Guler, ... Journal of Kidney Cancer and VHL 8 (1), 19, 2021 | 2 | 2021 |
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease S Yalcintepe, T Maras, I Kizilyar, H Sezginer Guler, D Zhuri, E Atli, Y Ozen, ... Molecular Syndromology 15 (4), 284-288, 2024 | 1 | 2024 |
A Study of FoxO1, mTOR, miR-21, miR-29b, and miR-98 Expression Levels Regarding Metabolic Syndrome in Acne Vulgaris Patients N Akdağ, E Atli, D Zhuri̇, HS Güler, YG Ürün Cureus 16 (3), 2024 | 1 | 2024 |
Clinical exome sequencing reveals an important role for clinical diagnosis of intellectual disability with definition of seven novel variants. S Yalcintepe, I Gorker, L Bozatli, HS Guler, D Zhuri, S Demir, EI Atli, E Atli, ... Neurology Asia 28 (4), 2023 | 1 | 2023 |
The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method S Yalcintepe, Y Karal, S Demir, EI Atli, E Atli, D Eker, C Mail, D Zhuri, ... Global Medical Genetics 10 (02), 117-122, 2023 | 1 | 2023 |
Identification of a Novel KIF11 Variant p.(Leu804Thrfs Ter13) in a Case with Isolated Microcephaly S Yalcintepe, HS Guler, D Zhuri, D Eker, H Gurkan Journal of Head & Neck Physicians and Surgeons 10 (1), 112-115, 2022 | 1 | 2022 |
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss D Zhuri, HS Guler, S Yalcintepe, S Demir, E Atli, EI Atli, H Gurkan The Journal of International Advanced Otology 20 (4), 312, 2024 | | 2024 |
Liquid biopsy as a new era in endometrial cancer D Zhuri, S Yalcintepe Oncologie 26 (3), 483-486, 2024 | | 2024 |
Eritrosit Zar Defektlerinin Tanısı, Tedavisi, Prognozu ve Takibinde Genetik S YALÇINTEPE, HS GÜLER, D ZHURİ Turkiye Klinikleri Medical Genetics-Special Topics 9 (2), 23-28, 2024 | | 2024 |
Otizm Spektrum Bozukluğu ile FOXP2, GRIN2B, KATNAL2 ve GABRA4 Genlerinin İlişkisinin Araştırılması S YALÇINTEPE, I GÖRKER, S DEMİR, Eİ ATLI, E ATLI, H TOZKIR, N SÜT, ... | | 2021 |
Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship H Sezginer Guler, D Zhuri, S Yalcintepe, S Altay, M Deveci, S Demir, ... Molecular Syndromology, 1-12, 0 | | |
Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey; 2 Department of Endocrinology and Metabolism, Faculty of Medicine, Ankara University … S Yalcintepe, H Gurkan, FN Korkmaz, S Demir, E Atli, D Eker, HS Guler, ... | | |