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Z

Zehra Oya Uyguner

Istanbul University

27H指数
200论文数
2.4K被引数
收录论文 44
发表时间
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Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype来自土耳其的一个RAS病队列的临床和分子特征及一种AMMECR1相关的类 Noonan 综合征表型
errClinical Genetics
IF2.3
err2026-09-30
err0
PREAI
errEsma Nur Konur Akbaş; Güven Toksoy; Şahin Avcı; Umut Altunoğlu; Tuğba Kalaycı; Gözde Yeşil Sayın; Hülya Kayserili; Zehra Oya Uyguner; Ayça Dilruba Aslanger
err分享
err收藏
THE MANAGEMENT OF RENAL MANIFESTATIONS IN VON HIPPEL-LINDAU SYNDROME: INSIGHTS FROM A SINGLE INSTITUTION'S THREE-DECADE EXPERIENCE范布伦-林道综合征肾表现的管路：单一机构三十年经验的启示
errJournal of Urology
IF6.8
err2026-05-01
err0
PREAI
errErdem, Selcuk; Ozervarli, Firat; Bicer, Melih; Ates, Yasin; Hurdogan, Ozge; Kalayci, Tugba; Uyguner, Zehra Oya; Ozluk, Yasemin; Sanli, Oner; Ozcan, Faruk
err分享
err收藏
Essential Tremor: Family-Based Sequencing Suggests Involvement of Neuronal and Metabolic Pathways特发性震颤：基于家系的测序研究提示其与神经元和代谢通路相关
errParkinsonism & Related Disorders
IF3.4
err2026-02-25
err0
PREAI
errAgharza Aghayev; Melda Erdoğdu; Duygu Aydemir; Gulendam Bagirova; Ayca Dilruba Aslanger; Tugba Uyar Cankay; Nihan Hande Akcakaya; Zehra Oya Uyguner
err分享
err收藏
Use of serum MKRN3 and DLK1 levels in precocious puberty: association with an MKRN3 pathogenic variant血清MKRN3和DLK1水平在性早熟中的应用：与MKRN3致病性变异的关联
errTherapeutic Advances in Endocrinology and Metabolism
IF4.6
err2026-02-20
err0
PREAI
errEsin Karakilic-Ozturan; Volkan Karaman; Asuman Gedikbaşı; Şükran Poyrazoğlu; Feyza Darendeliler; Zehra Oya Uyguner; Firdevs Baş
err分享
err收藏
Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies产前和死后对FGFR2相关胎儿颅缝早闭的表征：强调罕见和不典型畸形
errPrenatal Diagnosis
IF2.7
err2026-02-01
err0
PREAI
errKaraman, Volkan; Aslanger, Ayca Dilruba; Sivrikoz, Tugba Sarac; Yildirim, Behiye Tugce; Avci, Sahin; Altunoglu, Umut; Kalelioglu, Ibrahim Halil; Erdogdu, Melda; Karaman, Birsen; Has, Recep; Kalayci, Tugba; Uyguner, Zehra Oya
err分享
err收藏
Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design苯丙酮尿症中的基因型-表型相关性：PAH变异体和BH4反应性对治疗方案设计
errHuman Genomics
IF4.3
err2026-02-01
err0
PREAI
errKaraca, Meryem; Gedikbasi, Asuman; Selamioglu, Arzu; Yesil, Alihan; Toksoy, Guven; Gulec, Cagri; Balci, Mehmet Cihan; Gunes, Dilek; Yildirim, Behiye Tugce; Kina, Gizem; Karaman, Volkan; Aslanger, Ayca Dilruba; Karaman, Birsen; Demirkol, Mubeccel; Uyguner, Zehra Oya; Gokcay, Gulden Fatma
err分享
err收藏
Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study46,XY性发育异常的分子诊断：一项单中心研究，采用定制设计的目标基因面板进行高效的初始分子分析
errSexual Development
IF2.4
err2026-01-06
err0
errOAAI
errPoyrazoglu, Sukran; Aghayev, Agharza; Toksoy, Guven; Karaman, Birsen; Aslanger, Ayca Dilruba; Avci, Sahin; Altunoglu, Umut; Karaman, Volkan; Yildiz, Melek; Abali, Zehra Yavas; Bas, Firdevs; Basaran, Seher; Darendeliler, Feyza; Uyguner, Zehra Oya
err分享
err收藏
Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency生长促进疗法对经典型21-羟化酶缺乏症患者青春期、生长及最终身高的影响
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2025-12-01
err0
PREAI
errYavas Abali, Zehra; Yildiz, Melek; Abali, Saygin; Moniri, Ariorad; Bas, Firdevs; Onal, Hasan; Cilsaat, Gizem; Toksoy, Guven; Turan, Serap; Poyrazoglu, Sukran; Uyguner, Zehra Oya; Bundak, Ruveyde; Bereket, Abdullah; Darendeliler, Feyza; Guran, Tulay
err分享
err收藏
Genetic Testing and Counselling for Hereditary Renal Carcinoma: What Do Clinicians Need to Know?遗传性肾癌的基因检测与咨询：临床医生需要了解什么？
errEuropean Urology Open Science
IF4.5
err2025-11-04
err0
errOAAI
errChiara Re; Angela Pecoraro; Grant D. Stewart; Anna Caliò; Selcuk Erdem; Tugba Kalayci; Zehra Oya Uyguner; Alessandro Larcher; Riccardo Campi; Daniele Amparore; James Whitworth; Laura Marandino
err分享
err收藏
Olfactory Receptor Gene Deletions: A Novel Genetic Findings in Idiopathic Prepubertal Gynecomastia and Juvenile Macromastia嗅觉受体基因缺失：特发性青春期前男性乳房发育症和青少年巨乳症的全新遗传发现
errHORMONE RESEARCH IN PAEDIATRICS
IF2.7
err2025-11-01
err0
PREAI
errBas, Firdevs; Karaman, Birsen; Kardelen, Asli Derya; Heidargholizadeh, Somayyeh; Najafli, Adam; Toksoy, Guven; Koc, Cansu; Poyrazoglu, Sukran; Yildiz, Melek; Uyguner, Zehra Oya; Basaran, Seher; Darendeliler, Feyza
err分享
err收藏
Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability3-M综合征长期随访的生长和青春期发育：生长激素治疗的效果及反应变异性
errEndocrine
IF2.9
err2025-09-20
err0
PREAI
errAyse Pinar Ozturk; Ayca Dilruba Aslanger; Umut Altunoglu; Cagri Gulec; Esin Karakilic Ozturan; Volkan Karaman; Elif Yilmaz Gulec; Alper Gezdirici; Gozde Yesil; Guven Toksoy; Melek Yildiz; Sukran Poyrazoglu; Firdevs Bas; Zehra Oya Uyguner; Hulya Kayserili; Feyza Darendeliler
err分享
err收藏
A Novel Homozygous TBC1D2B Variant Disrupts Functional Domains and Suggests Impaired Rab-GTPase Regulation in Neurodevelopmental Disorder一种新型纯合TBC1D2B变异体破坏了功能结构域，并提示神经发育障碍中Rab-GTP酶调节受损。
errDevelopmental Neurobiology
IF2.3
err2025-09-02
err0
PREAI
errMurat Ozturk; Cahide Bulut Arslan; Ekrem Akbulut; Esra Habiloglu; Esra Yaylı; Zehra Oya Uyguner
err分享
err收藏
The Effect of Aerobic Exercise Training on Patients with Type III Spinal Muscular Atrophy有氧运动训练对III型脊髓性肌萎缩患者的影响
errJournal of Clinical Medicine 2025, Vol. 14, Page 6087
IF2.9
err2025-08-29
err0
errOAAI
errSezan Mergen Kilic; Fatma Mutluay; Arman Cakar; Murat Giris; Hacer Durmus; Ilknur Bingul; Asuman Gedikbasi; Canan Kucukgergin; Zehra Oya Uyguner; Yesim Parman
err分享
err收藏
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult PatientsAarskog综合征：包含成年患者的新队列的深度表型分析和基因组景观
errCLINICAL GENETICS
IF2.3
err2025-04-02
err0
errOAAI
errGozde Tutku Turgut; Umut Altunoglu; Şahin Avcı; Tuğba Kalaycı; Ayça Dilruba Aslanger; Volkan Karaman; Zehra Oya Uyguner; Hülya Kayserili
err分享
err收藏
Complex crosstalk: early-onset lupus and antiphospholipid syndrome in a child with SHOC2-related RASopathy复杂串扰：一名SHOC2相关RASopathy患儿的早期发病狼疮和抗磷脂综合征
errRHEUMATOLOGY
IF4.4
err2025-03-14
err0
PREAI
errMenentoglu, Bengisu; Akbas, Esma Nur Konur; Kayaalp, Gulsah Kavrul; Akgun, Ozlem; Aslanger, Ayca Dilruba; Uyguner, Zehra Oya; Ayaz, Nuray Aktay
err分享
err收藏
Novel variants ensued genomic imprinting in familial central precocious puberty
errJOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
IF3.5
err2024-02-17
err2
errOAAI
errKaraman, V.; Karakilic-Ozturan, E.; Poyrazoglu, S.; Gelmez, M. Y.; Bas, F.; Darendeliler, F.; Uyguner, Z. O.
err分享
err收藏
Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
errEMBO MOLECULAR MEDICINE
IF8.3
err2023-10-06
err1
errOAAI
errTheil, Arjan F.; Pines, Alex; Kalayci, Tugba; Heredia-Genestar, Jose M.; Raams, Anja; Rietveld, Marion H.; Sridharan, Sriram; Tanis, Sabine E. J.; Mulder, Klaas W.; Bueyuekbabani, Nesimi; Karaman, Birsen; Uyguner, Zehra O.; Kayserili, Huelya; Hoeijmakers, Jan H. J.; Lans, Hannes; Demmers, Jeroen A. A.; Pothof, Joris; Altunoglu, Umut; El Ghalbzouri, Abdoelwaheb; Vermeulen, Wim
err分享
err收藏
Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy
errJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
err2023-07-24
err2
PREAI
errCakar, Arman; Bagirova, Gulandam; Durmus, Hacer; Uyguner, Oya; Parman, Yesim
err分享
err收藏
Single Center Experience of RETREG1-related Hereditary Sensory Autonomic Neuropathy in Turkey
errNEUROLOGY
IF8.5
err2023-04-25
err0
PREAI
errCakar, Arman; Bagirova, Gulandam; Durmus, Hacer; Uyguner, Zehra Oya; Parman, Fatma Yesim
err分享
err收藏
Ovarian and paraovarian adrenal rest tumors are not uncommon in gonadectomy materials of historical congenital adrenal hyperplasia cases in childhood
errEUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
err2022-06-01
err2
errOAAI
errYildiz, Melek; Bayram, Aysel; Bas, Firdevs; Karaman, Volkan; Toksoy, Guven; Poyrazoglu, Sukran; Soysal, Feryal Gun; Onder, Semen; Uyguner, Zehra Oya; Darendeliler, Feyza
err分享
err收藏

研究方向

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