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Drenushe ZHURI
Drenushe ZHURI
Подтвержден адрес электронной почты в домене trakya.edu.tr
Название
Процитировано
Процитировано
Год
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
112022
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
62021
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
22024
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
22024
The possible role of epigenetics in the etiology of hypospadias
DA Sadettin Yıldız, İrem İnanç, Drenushe Zhurı, Engin Atlı
Journal of Pediatric Urology, 2024
22024
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
22022
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
22021
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
12024
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
12024
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
12023
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
12023
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
12022
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, ...
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