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

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

Predictive role of vulnerable elderly study-13 screening tools in chemotherapy-related toxicity in elderly patients with lung cancer

脆弱老年人研究-13项筛查工具在老年肺癌患者化疗相关毒性中的预测作用

Kara, Kaan; Cavdar, Eyyup

A Taguchi-Based and Data-Driven Assessment of Surface Roughness and Wettability in FDM-Printed Polymers

基于田口方法和数据驱动的FDM打印聚合物表面粗糙度和润湿性评估

Albaşkara, Mehmet; Gerçekcioğlu, Eyyup

Attention performance in emergency physicians: the effect of shift duration and cardiac arrest cases

急诊医师注意力表现:轮班时长和心脏骤停病例的影响

Yasak, İbrahim Halil; Demir, Hüseyin Avni; Şeyhanlı, Eyyup Sabri; Giden, Ramazan; Barut, Esat

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum

Rubinstein-Taybi综合征中CREBBP基因内重复的新型变异:一例病例报告拓展了基因型-表型谱

Dursun, Enes; Uctepe, Eyyup; Guler, Serhat; Mancilar, Hanifenur; Yesilyurt, Ahmet

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

EEFSEC 缺乏症:一种伴有早发性神经退行性变的硒病

Laugwitz, Lucia; Buchert, Rebecca; Olguín, Patricio; Estiar, Mehrdad A; Atanasova, Mihaela; Jr, Wilson Marques; Enssle, Jörg; Marsden, Brian; Avilés, Javiera; González-Gutiérrez, Andrés; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J; Diebold, Uta; Mueller, Amelie J; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uirá Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Krägeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S; Gan-Or, Ziv; Haack, Tobias B

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

MRPL49基因的双等位基因变异会导致不同的临床表现,包括感觉神经性听力损失、脑白质营养不良和卵巢功能不全。

Thomas, Huw B; Demain, Leigh A M; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B; Oláhová, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W; Munro, Kevin J; Alkuraya, Fowzan S; Jamieson, Peter; Ahmed, Zubair M; Leal, Suzanne M; Taylor, Robert W; Wittig, Ilka; O'Keefe, Raymond T; Newman, William G

Influence of visual objects and music on anxiety levels and imaging process in patients undergoing coronary CT angiography

视觉对象和音乐对接受冠状动脉CT血管造影患者的焦虑水平和成像过程的影响

Tekinhatun, Muhammed; Alver, Kadir Han; Akbudak, İbrahim; Turmak, Mehmet; Çavdar, Eyyup; Deniz, Muhammed Akif

FOLFIRINOX: The Best Adjuvant Treatment for Ampullary Adenocarcinoma? A Multicenter Study by the Turkish Oncology Group (TOG)

FOLFIRINOX方案:壶腹腺癌的最佳辅助治疗方案?土耳其肿瘤协作组(TOG)的多中心研究

Kalem, Ali; Kus, Tulay; Sahin, Taha Koray; Dizdar, Omer; Efil, Safa Can; Sendur, Mehmet Ali Nahit; Aykut, Talat; Araz, Murat; Bolek, Hatice; Urun, Yuksel; Sever, Nadiye; Bayoglu, Ibrahim Vedat; Cavdar, Eyyup; Sagıroglu, Muhammed Fatih; Gunes, Tugce Kubra; Ozcelik, Melike; Demirel, Nadide; Yıldız, Bulent; Karabuga, Berkan; Yalcıntas Arslan, Ulku; Gokcek, Savas; Unek, Ilkay Tugba; Saray, Seray; Aslan, Ferit; Acar, Omer; Erdogan, Atike Pınar; Seyyar, Mustafa; Aktas, Gokmen; Yalcın, Suayib