日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Clinical and Genetic Aspects of Verheij Syndrome in Two Cases

Verheij综合征两例病例的临床和遗传学特征

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000545448
Kursat, Yade Dilay; Sezginer Guler, Hazal; Zhuri, Drenushe; Gurkan, Hakan; Yalcintepe, Sinem
发表日期：2026
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Genomic characterization of patients with colorectal cancer

结直肠癌患者的基因组特征分析

期刊:Hereditary Cancer in Clinical Practice
影响因子:2.4
doi:10.1186/s13053-025-00322-x
Mahdouani, Marwa; Zhuri, Drenushe; Dusenkalkan, Fulya; Gurkan, Hakan; Yalcintepe, Sinem
肿瘤
肠癌
肿瘤免疫
发表日期：2025
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Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship

利用新一代测序技术评估心肌病相关靶基因并研究表型-基因型关系

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000542097
Sezginer Guler, Hazal; Zhuri, Drenushe; Yalcintepe, Sinem; Altay, Servet; Deveci, Murat; Demir, Selma; Gurlertop, Hanefi Yekta; Atli, Engin; Atli, Emine İkbal; Gurkan, Hakan
心血管
心肌病
Sequencing
发表日期：2025
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A Study of FoxO1, mTOR, miR-21, miR-29b, and miR-98 Expression Levels Regarding Metabolic Syndrome in Acne Vulgaris Patients

痤疮患者代谢综合征中FoxO1、mTOR、miR-21、miR-29b和miR-98表达水平的研究

期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.56562
Akdağ, Nazan; Atli, Engin; Zhuri, Drenushe; Sezgi Ner Güler, Hazal; Gürsel Ürün, Yıldız
mTOR
代谢综合征
代谢
发表日期：2024
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Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss

利用下一代测序方法研究听力损失中的目标基因并识别新变异

期刊:Journal of International Advanced Otology
影响因子:1
doi:10.5152/iao.2024.22919
Drenushe Zhuri, Hazal Sezginer Guler, Sinem Yalcintepe, Selma Demir, Engin Atli, Emine Ikbal Atli, Hakan Gurkan
发表日期：2024
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A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

土耳其患者CSNK2A1基因新发突变导致Okur-Chung神经发育综合征的病例报告

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000530585
Zhuri, Drenushe; Dusenkalkan, Fulya; Tunca Alparslan, Guzin; Gurkan, Hakan
发育与干细胞
神经科学
发表日期：2024
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Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease

卡纳万病患者携带父系遗传的纯合ASPA变异

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000536386
Yalcintepe, Sinem; Maras, Tuba; Kizilyar, Ilke; Sezginer Guler, Hazal; Zhuri, Drenushe; Atli, Engin; Ozen, Yasemin; Gurkan, Hakan
发表日期：2024
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Functional analysis of MMR gene VUS from potential Lynch syndrome patients

对潜在林奇综合征患者的MMR基因VUS进行功能分析

期刊:PLoS One
影响因子:
doi:10.1371/journal.pone.0304141
Mahdouani, Marwa; Zhuri, Drenushe; Sezginer Guler, Hazal; Hmida, Dorra; Sana, Mokni; Azaza, Mohamed; Ben Said, Mariem; Masmoudi, Saber; Hmila, Fahmi; Youssef, Sabri; Ben Sghaier, Rihab; Brieger, Angela; Zeuzem, Stefan; Saad, Ali; Gurkan, Hakan; Yalcintepe, Sinem; Gribaa, Moez; Plotz, Guido
多发性骨髓瘤
发表日期：2024
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The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

采用MLPA方法分析246例土耳其病例中SMN1、SMN2拷贝数的频率

期刊:Global Medical Genetics
影响因子:1.5
doi:10.1055/s-0043-1770055
Yalcintepe, Sinem; Karal, Yasemin; Demir, Selma; Atli, Emine Ikbal; Atli, Engin; Eker, Damla; Mail, Cisem; Zhuri, Drenushe; Guler, Hazal Sezginer; Gurkan, Hakan
SMN
SMN1
发表日期：2023
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Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

基因修饰对脊髓性肌萎缩症表型的影响研究

期刊:Global Medical Genetics
影响因子:1.5
doi:10.1055/s-0042-1751302
Zhuri, Drenushe; Gurkan, Hakan; Eker, Damla; Karal, Yasemin; Yalcintepe, Sinem; Atli, Engin; Demir, Selma; Atli, Emine Ikbal
神经科学
肌萎缩症
发表日期：2022
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