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

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

Three-Dimensional Cartilage Tissue Engineering Using Placenta-Derived Extra-Embryonic Mesenchymal Stem Cells: From Isolation to Differentiation

利用胎盘来源的胚外间充质干细胞进行三维软骨组织工程:从分离到分化

Mujde, Cem; Bisgin, Atil

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders

诊断患有各种遗传性血小板疾病的患者的临床和实验室特征

Gök, Veysel; Ozcan, Alper; Mutlu, Fatma Türkan; Yılmaz, Ebru; Kocak Göl, Deniz; Ozay, Mustafa; Demir, Baver; Taskiran, Hüseyin; Bas, Hasan; Mutlu, Mehmet Burak; Dogan, Muhammet Ensar; Bisgin, Atil; Somekh, Ido; Rohlfs, Meino; Dundar, Munis; Ozkul, Yusuf; Klein, Christoph; Karakukcu, Musa; Unal, Ekrem

Prognostic Significance of Liquid Biopsy-Detected Genetic Alterations in Hepatocellular Carcinoma

液体活检检测到的基因改变在肝细胞癌中的预后意义

Sarıtaş, Ahmet Gökhan; Yavuz, Burak; Aydın, İshak; Ağca, Harun; Topal, Uğur; Ballı, Tuğsan; Bisgin, Atil; Ülkü, Abdullah; Akçam, Atılgan Tolga

Adult Growth Hormone Deficiency (AGHD) and Outcomes (NordiNet and ANSWER)

成人生长激素缺乏症 (AGHD) 及其预后 (NordiNet 和 ANSWER)

Carmichael, John D; Kargi, Atil Y; Dichtel, Laura; Kelepouris, Nicky; Nedjatian, Navid; Fridman, Moshe; Weber, Matthias M

Computational markers show specific deficits for dyslexia and ADHD in complex learning settings

计算指标显示,在复杂的学习环境中,阅读障碍和注意力缺陷多动障碍患者存在特定的缺陷。

Gabay, Yafit; Jacob, Lana; Mansour, Atil; Hertz, Uri

A Systematic Review of Communication for Behavioural Impact (COMBI) as a Dengue Prevention Programme

对行为影响沟通(COMBI)作为登革热预防方案的系统评价

Kunasagran, Priya Dharishini; Syed Abdul Rahim, Syed Sharizman; Chun Chao, Gary Goh; Muyou, Adora J; Sidek, Zulkhairul Naim; Hidrus, Aizuddin; Atil, Azman; Dapari, Rahmat

Psychiatric presentation of Gerstmann-Sträussler-Scheinker disease with 9-OPRI mutation in PRNP gene: a case report

伴有PRNP基因9-OPRI突变的格斯特曼-施特劳斯勒-沙因克尔病的精神症状:病例报告

Atil, Ecem Su; Lenz, Philipp; Baune, Bernhard T; Sarkheil, Pegah

Functional Outcome of Arthroscopic Single-row Rotator Cuff Repair Using the PENN Shoulder Score - A Prospective Cohort Study

采用 PENN 肩关节评分评估关节镜下单排肩袖修复术的功能结果——一项前瞻性队列研究

Yadav, Jiut; Mishra, Amit; Lal, Atil Kumar; Khan, Asad; Jaipuriar, Sagar; Singh, Shivam

Sarcopenia is a bad harbinger of cancer-related survival in rectal cancer

肌少症是直肠癌患者生存率低下的不良预兆

Rakici, Sema Yilmaz; Aksoy, Rahmi Atil; Burakgazi, Gulen; Terzi, Ozlem; Aydin, Esra; Yazici, Zihni Acar; Ozbek Okumus, Nilgun