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

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design

苯丙酮尿症的基因型-表型相关性：PAH 变异体和 BH4 反应性在治疗设计中的应用

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-026-00936-9
Karaca, Meryem; Gedikbasi, Asuman; Selamioğlu, Arzu; Yesil, Alihan; Toksoy, Guven; Gulec, Cagri; Balci, Mehmet Cihan; Güneş, Dilek; Yıldırım, Behiye Tuğçe; Kına, Gizem; Karaman, Volkan; Aslanger, Ayca Dilruba; Karaman, Birsen; Demirkol, Mubeccel; Uyguner, Zehra Oya; Gokcay, Gulden Fatma
发表日期：2026
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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 Study

46,XY性发育异常的分子诊断：单中心研究中采用定制靶向基因panel进行高效初步分子分析

期刊:Sexual Development
影响因子:2.4
doi:10.1159/000550371
Poyrazoglu, 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
发育与干细胞
发表日期：2026
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Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions

罕见病临床管理面临的挑战以及以中心为基础的多学科协作解决方案

期刊:European Journal of Pediatrics
影响因子:2.6
doi:10.1007/s00431-025-06101-z
Gunes, D; Karaca, M; Durmus, A; Ak, B; Aktay Ayaz, N; Altınel, Z U; Aslanger, A D; Atalar, F; Balci, M C; Bilgin, L; Darendeliler, F; Demirkol, D; Durmaz, O; Gedikbasi, A; Inan Balci, E; Ince, E Z; Karadag, S G; Keskindemirci, G; Nisli, K; Ozcetin, M; Somer, A; Unuvar, A; Uysalol, M; Yildiz, E; Yuruk Yildirim, Z N; Demirkol, M; Gokcay, G F
发表日期：2025
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Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Aarskog综合征：包括成年患者在内的新队列的深度表型分析和基因组图谱

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14744
Turgut, Gozde Tutku; Altunoglu, Umut; Avcı, Şahin; Kalaycı, Tuğba; Aslanger, Ayça Dilruba; Karaman, Volkan; Uyguner, Zehra Oya; Kayserili, Hülya
发表日期：2025
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A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus

Sandestig-Stefanova综合征伴脑积水的一种新型截断变异

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000540314
Bulut, Gülnihal; Turgut, Gözde Tutku; Toksoy, Güven; Altunoğlu, Umut; Aslanger, Ayça Dilruba; Uyguner, Zehra Oya; Karaman, Birsen
神经科学
发表日期：2025
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Wearable armband with a floating mobile exploratory electrode at fingertip for on-demand touch-and-measure multilead electrocardiography

可穿戴臂带，指尖处带有可移动的浮动式探测电极，用于按需进行多导联心电图检查。

期刊:
影响因子:
doi:10.1017/wtc.2025.11
Guler, Saygun; Aslanger, Emre; Yapici, Murat Kaya
发表日期：2025
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Reply: Occlusion Myocardial Infarction: From Theoretical Concept to Practical Therapy

回复：闭塞性心肌梗死：从理论概念到实践治疗

期刊:JACC Advances
影响因子:
doi:10.1016/j.jacadv.2024.101550
McLaren, Jesse T T; de Alencar, José Nunes; Aslanger, Emre K; Meyers, H Pendell; Smith, Stephen W
心肌梗塞
心血管
发表日期：2025
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Reply: Circumflex Artery, Missed Occlusions, and Paradigm Shift

回复：回旋支动脉、漏诊闭塞和范式转变

期刊:JACC Advances
影响因子:
doi:10.1016/j.jacadv.2025.101748
McLaren, Jesse T T; de Alencar, José Nunes; Aslanger, Emre K; Meyers, H Pendell; Smith, Stephen W
发表日期：2025
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A Diagnostic Paradigm Shift in Acute Myocardial Infarction: Rationale and Design of the DIFOCCULT-3 Trial

急性心肌梗死诊断范式的转变：DIFOCCULT-3试验的理论基础和设计

期刊:JACC Advances
影响因子:
doi:10.1016/j.jacadv.2025.102227
Aslanger, Emre K; Aggül, Burcu; Yıldırımtürk, Özlem; Karabay, Can Yücel; Meyers, H Pendell; Smith, Stephen W; Değertekin, Muzaffer
心肌梗塞
心血管
发表日期：2025
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Hyperacute T Waves Are Specific for Occlusion Myocardial Infarction, Even Without Diagnostic ST-Segment Elevation

即使没有诊断性ST段抬高，超急性T波也是闭塞性心肌梗死的特异性表现。

期刊:JACC Advances
影响因子:
doi:10.1016/j.jacadv.2025.102120
Meyers, H Pendell; Simančík, František; Herman, Robert; Rafajdus, Adam; Frick, William H; Nunes de Alencar, José; Aslanger, Emre K; Smith, Stephen W
心肌梗塞
心血管
发表日期：2025
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