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

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities

NRDC基因的双等位基因变异会导致一种神经发育障碍,其特征是新生儿死亡、小头畸形和脑部异常。

Pehlivan, Davut; Sandoval, Abigail; Maroofian, Reza; Lecoquierre, François; Al Shamsi, Aisha M; Lee, Gyu S; Yesilbas, Osman; Taylor, Preston; McDougal, Matthew B; Bahrambeigi, Vahid; Aryani, Omid; Ramirez, Juan Felipe; Salih, Khalid Hama; Al Alam, Chadi; Morsy, Heba; Hussien, Haytham; Omar, Tarek; Abdelrazek, Ibrahim M; Brehin, Anne Claire; Marafi, Dana; Kalayci, Tugba; Rahma, Jubran Abu; Talbeya, Jawabreh Kassem; Dabbah, Husein; Verspyck, Eric; Moosavian, Toktam; Fatih, Jawid M; Mitani, Tadahiro; Akay, Gulsen; Calame, Daniel G; Guerrot, Anne-Marie; Chung, Wendy K; Houlden, Henry; Lupski, James R; Shalata, Adel; Yoon, Wan Hee

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation

家族性甲状腺髓样癌继发于SLC30A9基因内缺失和翻译重新起始

Iacovazzo, Donato; Begalli, Federica; Suleyman, Oniz; Doleschall, Márton; Alevizaki, Maria; Ashelford, Kevin E; Awad Mahmoud, Sherine; Barlier, Anne; Barry, Sayka; Brain, Caroline; Cabrera, Claudia P; Castinetti, Frédéric; Chiloiro, Sabrina; Colclough, Kevin; Csábi, Alexandra; Druce, Maralyn R; Dutta, Pinaki; Fatih, Jawid M; Foulkes, William D; Gandhi, Mira; Grochowski, Christopher M; Hall, Charlotte L; Jarząb, Barbara; Klein, Kathleen O; Krajewska, Jolanta; Kurzawinski, Tom R; Lamers, Sebastiaan; Lugli, Francesca; Magid, Kesson; Margraf, Rebecca; Martin, Carmen S; Mathiesen, Jes S; Mihai, Radu; Morrison, Patrick J; Mozere, Monika; Oczko-Wojciechowska, Małgorzata; Owens, Martina; Ozretić, Luka; Patócs, Attila; Piacentini, Serena; Punetha, Jaya; Romanet, Pauline; Savola, Suvi; Schoenfelder, Stefan; Scott-Coombes, David M; Stanescu, Horia; Tekman, Mehmet; Thomas, Laura E; Tóth, Miklós; Wingett, Steven W; Witcher, Michael; Carvalho, Claudia M B; Franke, Martin; Kleta, Robert; Lupski, James R; Sampson, Julian R; De Marinis, Laura; Korbonits, Márta

Determination of the Kinetic Rates and Intrinsic Nonradiative Losses in Organic Thermally Activated Delayed Fluorescence Emitters

有机热激活延迟荧光发射体的动力学速率和固有非辐射损失的测定

Zhou, Xin; Nikan, Jawid; Guo, Kaiwen; Blom, Paul W M; Wetzelaer, Gert-Jan A H; Li, Yungui

Black rice as the emerging functional food: bioactive compounds, therapeutic potential and industrial applications

黑米作为一种新兴功能性食品:生物活性化合物、治疗潜力和工业应用

Javed, Mavra; Jawid, Jawaria; Zafar, Saira; Ahmad, Abdul Momin Rizwan; Shah, Syed Hassan Bin Usman; Farooq, Umar; Abid, Juweria

Bordetella adenylate cyclase toxin elicits chromatin remodeling and transcriptional reprogramming that blocks differentiation of monocytes into macrophages.

博德特氏菌腺苷酸环化酶毒素可引起染色质重塑和转录重编程,从而阻止单核细胞分化为巨噬细胞

Ahmad Jawid Nazir, Modrak Martin, Fajfrova Marketa, Sotoca Blanca Martin-Borja, Benada Oldrich, Sebo Peter

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32

基因组平衡之道:解读涉及 5p15.2、2q31.1 和 18q21.32 的复杂染色体畸变中的 DNA 重排

Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid M; El-Rashidy, Omnia F; Grochowski, Christopher M; Carvalho, Claudia M B; Jhangiani, Shalini N; Bi, Weimin; Du, Haowei; Gibbs, Richard A; Posey, Jennifer E; Calame, Daniel G; Zaki, Maha S; Lupski, James R

Ultra-high resolution CT angiography for the assessment of intracranial stents and flow diverters using photon counting detector CT

利用光子计数探测器CT进行超高分辨率CT血管造影评估颅内支架和血流导向装置

Ludovichetti, Riccardo; Gorup, Dunja; Krepuska, Mikos; Winklhofer, Sebastian; Thurner, Patrick; Madjidyar, Jawid; Flohr, Thomas; Piccirelli, Marco; Michels, Lars; Alkadhi, Hatem; Mergen, Victor; Kulcsar, Zsolt; Schubert, Tilman

Visualization of Intracranial Aneurysms Treated with Woven EndoBridge Devices Using Ultrashort TE MR Imaging

利用超短回波时间磁共振成像技术对采用编织式内桥装置治疗的颅内动脉瘤进行可视化

Toth, Daniel; Sommer, Stefan; Ludovichetti, Riccardo; Klarhoefer, Markus; Madjidyar, Jawid; Thurner, Patrick; Piccirelli, Marco; Krepsuka, Miklos; Finkenstädt, Tim; Guggenberger, Roman; Winklhofer, Sebastian; Kulcsar, Zsolt; Schubert, Tilman

Thrombus perviousness in acute ischemic stroke: a scoping review of methodology, predictive value, and future perspectives

急性缺血性卒中血栓通透性:方法学、预测价值和未来展望的范围综述

Bertalan, Gergely; Thurner, Patrick; Madjidyar, Jawid; Krepuska, Miklós; Anagnostakou, Vania; Kyselyova, Anna; Schubert, Tilman; Kulcsar, Zsolt

Emergency endovascular treatment of stroke due to cervical artery dissection - impact of periprocedural GP IIb/IIIa inhibitor use on clinical outcome

颈动脉夹层所致卒中的急诊血管内治疗——围手术期使用GP IIb/IIIa抑制剂对临床结果的影响

Sornalingam, Abira; Wegener, Susanne; Stattmann, Miranda; Baumann, Jil; Thurner, Patrick; Madjidyar, Jawid; Husain, Hakim Shakir; Krepuska, Miklos; Globas, Christoph; Luft, Andreas R; Kulcsar, Zsolt; Schubert, Tilman