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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

RNU4-2 的饱和基因组编辑揭示了不同的显性和隐性神经发育障碍

De Jonghe, Joachim; Kim, Hyung Chul; Adedeji, Ayanfeoluwa; Leitão, Elsa; Dawes, Ruebena; Chen, Yuyang; Blakes, Alexander Jm; Simons, Cas; Rius, Rocio; Alvi, Javeria R; Amblard, Florence; Austin-Tse, Christina; Baer, Sarah; Balton, Elsa V; Blanc, Pierre; Calame, Daniel G; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Dipple, Katrina M; Du, Haowei; El Chehadeh, Salima; Glass, Ian; Gleeson, Joseph G; Grunewald, Olivier; Gueguen, Paul; Harbuz, Radu; Jacquemont, Marie-Line; Leventer, Richard J; Marijon, Pierre; Messaoud, Olfa; Sultan, Tipu; Thauvin, Christel; Vincent-Delorme, Catherine; Gulec, Elif Yilmaz; Thevenon, Julien; Mendez, Rodrigo; MacArthur, Daniel G; Depienne, Christel; Nava, Caroline; Whiffin, Nicola; Findlay, Gregory M

Prevalence and determinants of hyperemesis gravidarum among pregnant women in Ethiopia: A systematic review and meta-analysis

埃塞俄比亚孕妇妊娠剧吐的患病率及决定因素:系统评价和荟萃分析

Beyene, Girma Alemayehu; Ayele, Nitsuh D; Kasahun, Abebaw Wasie

Does intellectual capital efficiency measured by modified value-added intellectual coefficient affect the financial performance of insurance companies in Ethiopia?

以修正后的增值知识系数衡量的知识资本效率是否会影响埃塞俄比亚保险公司的财务业绩?

Ayinaddis, Samuel Godadaw; Tegegne, Habtamu Getachew; Belay, Nitsuh Alemayehu

A Thorough Navigation of miRNA's Blueprint in Crafting Cardiovascular Fate

深入了解 miRNA 在塑造心血管命运中的蓝图

Nazir, Abubakar; Uwishema, Olivier; Shariff, Sanobar; Franco, William Xochitun Gopar; El Masri, Noha; Ayele, Nitsuh Dejene; Munyangaju, Isabelle; Alzain, Fatima Esam; Wojtara, Magda

Pioneering family medicine: A collaborative global health education partnership in Ethiopia

家庭医学的开拓:埃塞俄比亚的一项全球健康教育合作项目

Woldeyes, Meseret Z; Makhani, Leila; Ephrem, Nitsuh; Rodas, Jamie; Andoniou, Ellena; Rouleau, Katherine; Ghavam-Rassoul, Abbas; Janakiram, Praseedha

Tailoring epilepsy treatment: personalized micro-physiological systems illuminate individual drug responses

癫痫治疗方案的个体化:个性化微生理系统揭示个体药物反应

Shariff, Sanobar; Kantawala, Burhan; Xochitun Gopar Franco, William; Dejene Ayele, Nitsuh; Munyangaju, Isabelle; Esam Alzain, Fatima; Nazir, Abubakar; Wojtara, Madga; Uwishema, Olivier

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

UQCRFS1相关线粒体复合物III缺乏症和隐性GJA8相关白内障的双重诊断

Blue, Elizabeth E; Huang, Samuel J; Khan, Alyna; Golden-Grant, Katie; Boyd, Brenna; Rosenthal, Elisabeth A; Gillentine, Madelyn A; Fleming, Leah R; Adams, David R; Wolfe, Lynne; Allworth, Aimee; Bamshad, Michael J; Caruana, Nikeisha J; Chanprasert, Sirisak; Chen, Jingheng; Dargie, Nitsuh; Doherty, Daniel; Friederich, Marisa W; Hisama, Fuki M; Horike-Pyne, Martha; Lee, Jessica C; Donovan, Tonia E; Hock, Daniella H; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Ranchalis, Jane; Raskind, Wendy H; Michel, Cole R; Reisdorph, Richard; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Stroud, David A; Sybert, Virginia P; Wener, Mark H; Stergachis, Andrew B; Lam, Christina T; Jarvik, Gail P; Dipple, Katrina M; Van Hove, Johan L K; Glass, Ian A

Antibiotic Susceptibility Pattern and Bacterial Spectrum Among Patients with External Eye Infections at Menelik II Referral Hospital in Addis Ababa, Ethiopia

埃塞俄比亚亚的斯亚贝巴梅内利克二世转诊医院外眼感染患者的抗生素敏感性模式和细菌谱

Woreta, Asmamaw Nitsuh; Kebede, Habtamu Biazin; Tilahun, Yonas; Teklegiorgis, Solomon Gebreselassie; Abegaz, Woldaregay Erku

Intrinsic Resistance: A Significant Characteristic in Evaluating Antibiotic Sensitivity Pattern [Response to Letter]

固有耐药性:评价抗生素敏感性模式的重要特征[对来信的回应]

Woreta, Asmamaw Nitsuh; Kebede, Habtamu Biazin; Tilahun, Yonas; Teklegiorgis, Solomon Gebreselassie; Abegaz, Woldaregay Erku