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

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

The effect of high intensity interval training on body composition, metabolic, inflammatory and oxidative stress markers in adolescents with obesity

高强度间歇训练对肥胖青少年身体成分、代谢、炎症和氧化应激标志物的影响

Atabay Arslan, Gulten; Kasimay, Ozgur; Bingul, Ilknur; Gedikbasi, Asuman; Agopyan, Ani; Kucuk Yetgin, Meral

Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics

纳米孔测序在CLN2(TPP1)突变检测中的基准测试:整合快速基因组学和正交验证以实现精准诊断

Teker, Betül; Akan, Gökce; Kazan, Hasan Hüseyin; Özgen, Özge; Tatonyan, Suzin; Balci, Mehmet Cihan; Karaca, Meryem; Kurekci, Fulya; Yıldız, Edibe Pembegül; Güngor, Olcay; Deniz, Adnan; Gedikbasi, Asuman; Atalar, Fatmahan; Gokcay, Gülden Fatma; Poda, Mehves

Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency

线粒体氨酰tRNA合成酶缺乏症患者血清FGF21水平的评估

Tekin Neijmann, Sebnem; Gunes, Dilek; Karaca, Meryem; Karaman, Volkan; Balci, Mehmet Cihan; Gokcay, Gulden Fatma; Gedikbasi, Asuman

The Effect of Aerobic Exercise Training on Patients with Type III Spinal Muscular Atrophy

有氧运动训练对III型脊髓性肌萎缩症患者的影响

Mergen Kilic, Sezan; Mutluay, Fatma; Cakar, Arman; Giris, Murat; Durmus, Hacer; Bingul, Ilknur; Gedikbasi, Asuman; Kucukgergin, Canan; Uyguner, Zehra Oya; Parman, Yesim

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

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

Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency

胱硫醚β-合成酶缺乏症中的氧化损伤和线粒体功能障碍

Balci, Mehmet Cihan; Gedikbasi, Asuman; Dogan, Sukru Anil; Kahraman, Sevde; Tatoryan, Suzin; Neijmann, Sebnem Tekin; Karaca, Meryem; Atalar, Fatmahan; Gokcay, Gulden

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases

疑似患有线粒体疾病的患者的临床和双基因组 DNA 发现

Asuman Gedikbasi, Guven Toksoy, Meryem Karaca, Cagri Gulec, Mehmet Cihan Balci, Dilek Gunes, Seda Gunes, Ayca Dilruba Aslanger, Gokcen Unverengil, Birsen Karaman, Seher Basaran, Mubeccel Demirkol, Gulden Fatma Gokcay, Zehra Oya Uyguner

The relationship between urine heat shock protein 70 and congenital anomalies of the kidney and urinary tract: UTILISE study

尿液热休克蛋白70与肾脏和泌尿道先天性异常的关系:UTILISE研究

Aksu, Bagdagul; Afonso, Alberto Caldas; Akil, Ipek; Alpay, Harika; Atmis, Bahriye; Aydog, Ozlem; Bakkaloglu, Sevcan; Bayazıt, Aysun Karabay; Bayram, Meral Torun; Bilge, Ilmay; Bulut, Ipek Kaplan; Cetinkaya, Ayse Pinar Goksu; Comak, Elif; Demir, Belde Kasap; Dincel, Nida; Donmez, Osman; Durmus, Mehmet Akif; Dursun, Hasan; Dusunsel, Ruhan; Duzova, Ali; Ertan, Pelin; Gedikbasi, Asuman; Goknar, Nilufer; Guven, Sercin; Hacihamdioglu, Duygu; Jankauskiene, Augustina; Kalyoncu, Mukaddes; Kavukcu, Salih; Kenan, Bahriye Uzun; Kucuk, Nuran; Kural, Bahar; Litwin, Mieczysław; Montini, Giovanni; Morello, William; Obrycki, Lukasz; Omer, Beyhan; Misirli Ozdemir, Ebru; Ozkayin, Nese; Paripovic, Dusan; Pehlivanoglu, Cemile; Saygili, Seha; Schaefer, Franz; Schaefer, Susanne; Sonmez, Ferah; Tabel, Yilmaz; Tas, Nesrin; Tasdemir, Mehmet; Teixeira, Ana; Tekcan, Demet; Topaloglu, Rezan; Tulpar, Sebahat; Turkkan, Ozde Nisa; Uysal, Berfin; Uysalol, Metin; Vitkevic, Renata; Yavuz, Sevgi; Yel, Sibel; Yildirim, Tarik; Yildirim, Zeynep Yuruk; Yildiz, Nurdan; Yuksel, Selcuk; Yurtseven, Eray; Yilmaz, Alev

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Alström综合征严重心肌病的突变鉴定和预测,以及心肌病相关文献综述

Dedeoglu, Savas; Dede, Elif; Oztunc, Funda; Gedikbasi, Asuman; Yesil, Gozde; Dedeoglu, Reyhan