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

Implementation of a Traceback Testing Program for Ovarian Cancer: Findings from the FACTS Study

卵巢癌溯源检测项目的实施:FACTS 研究的发现

Henrikson, Nora B; Jonas, M Cabell; Blasi, Paula R; Buchanan, Adam H; Suwannarat, Pim; Leppig, Kathleen; Scrol, Aaron; Leitzel, Tracey; Deneal, Adrienne N; Canedo, Daniela; Ramaprasan, Arvind; Basra, Sundeep S; Brown, Jennifer; Odums, Marilyn; Hu, Yirui; Romagnoli, Katrina M; Khieu, Estella; Balton, Elsa; Patel, Saumya; Kunnmann, Muki; Hassen, Dina; Hao, Jing; Lewis, Meredith; Schwiter, Rachel; Goehringer, Jessica; Ramey, Heather M; Gustafson, Shanshan; Hsieh, Katrina; Ladd, Ilene; Rahm, Alanna K

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

Lived experiences of South African rehabilitation practitioners during coronavirus disease 2019

南非康复从业人员在2019冠状病毒病期间的亲身经历

Balton, Sadna; Pillay, Mershen; Armien, Rizqa; Vallabhjee, Annika L; Muller, Elani; Heywood, Mark J; van der Linde, Jeannie

Bridging the Access Gap: The Telepractice Experience of Speech Therapists and Audiologists at a Public Health Care Facility in South Africa

弥合医疗服务获取差距:南非一家公立医疗机构的言语治疗师和听力学家远程医疗实践经验

Govender, Shelissa; Vallabhjee, Annika L; Charles, Chenay R; Roesch, Darike; Balton, Sadna

When uncertainty becomes the norm: The Chris Hani Baragwanath Academic Hospital's Speech Therapy and Audiology Department's response to the COVID-19 pandemic

当不确定性成为常态:克里斯·哈尼·巴拉格瓦纳斯学术医院言语治疗和听力学部门对新冠肺炎疫情的应对

Balton, Sadna; Vallabhjee, Annika L; Pillay, Stephanie C

Voices of children with intellectual disabilities on participation in daily activities

智力障碍儿童参与日常活动的心声

Huus, Karina; Morwane, Refilwe; Ramaahlo, Maria; Balton, Sadna; Pettersson, Emelie; Gimbler Berglund, Ingalill; Dada, Shakila

Points to consider in cardiovascular disease risk management among patients with rheumatoid arthritis living in South Africa, an unequal middle income country

在南非这个中等收入国家(该国经济不平等),类风湿性关节炎患者心血管疾病风险管理需要考虑以下几点

Solomon, Ahmed; Stanwix, Anne E; Castañeda, Santos; Llorca, Javier; Gonzalez-Juanatey, Carlos; Hodkinson, Bridget; Romela, Benitha; Ally, Mahmood M T M; Maharaj, Ajesh B; Van Duuren, Elsa M; Ziki, Joyce J; Seboka, Mpoti; Mohapi, Makgotso; Jansen Van Rensburg, Barend J; Tarr, Gareth S; Makan, Kavita; Balton, Charlene; Gogakis, Aphrodite; González-Gay, Miguel A; Dessein, Patrick H