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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Use of pre-operative blood products in abdominal trauma: a planned secondary analysis of the GOAL-trauma study

腹部创伤术前输血:GOAL-trauma 研究的计划性二次分析

Ng, Wee-Han; Bath, Michael F; Amoako, Joachim; Kohler, Katharina; Baderhabusha, Daniel U; Cáceres, Eder; Nuño-Guzmán, Carlos M; Moonesinghe, Ramani; Hobbs, Laura; Smith, Brandon G; Weiser, Thomas G; Hardcastle, Timothy C; Perkins, Zane B; Bashford, Tom

Defining the bellwether procedures and processes for global trauma care: an international Delphi study

确定全球创伤护理的标杆性程序和流程:一项国际德尔菲研究

Bath, Michael F; Amoako, Joachim; Edmiston, Thomas; Ratnayake, Amila Sanjiva; Kabatoro, Daphne; Bagaria, Dinesh; Menon, Raj; Wohlgemut, Jared M; Hobbs, Laura; Smith, Brandon G; Nuño-Guzmán, Carlos M; Vélez, Sebastian E; Brennan, Rick; Conway Morris, Andrew; Hardcastle, Timothy Craig; Weiser, Thomas; Bashford, Tom

Retinal organoid screening reveals ABT-737 and luminespib as potential agents against a cone- precursor-derived subtype of retinoblastoma

视网膜类器官筛选显示,ABT-737 和 luminespib 可能是治疗视网膜母细胞瘤锥体前体细胞衍生亚型的潜在药物。

Kelk, Joe; Rozanska, Agata; Sotiriadou, Eleni; Astley, Dan; Hussain, Rafiqul; Unsworth, Adrienne; Gangar, Abbie; Robinson, Archie; Queen, Rachel; Coxhead, Jonathan; Steel, David H; Armstrong, Lyle; Parulekar, Manoj; Hardcastle, Ian; Veal, Gareth J; Lako, Majlinda

RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa

RP9 再探;RP9 p.(H137L) 突变仍然是显性剪接因子视网膜色素变性的可能病因。

Chang, Leon; Poulter, James A; Webster, Andrew R; Arno, Gavin; Mukherjee, Rajarshi; Lotery, Andrew; Hardcastle, Alison J; Watson, Christopher M; Inglehearn, Chris F

American Association for the Surgery of Trauma-World Society of Emergency Surgery Guidelines on the diagnosis and management of cervical vascular injuries

美国创伤外科协会-世界急诊外科协会关于颈椎血管损伤诊断和治疗的指南

Kobayashi, Leslie; Perkins, Louis; Johnston, Will; Kurth, Lisa; Black, Kendra; Abu-Zidan, Fikri; Augustin, Goran; Balogh, Zsolt J; Biffl, Walter L; Britt, L D; Catena, Fausto; Civil, Ian; Coccolini, Federico; Damaskos, Dimitris; De'Angelis, Nicola; De Simone, Belinda; Galante, Joseph M; Góes, Adenauer M O Jr; Parreira, Jose Gustavo; Hardcastle, Timothy; Inaba, Kenji; Kirkpatrick, Andrew; Kluger, Yoran; Leppäniemi, Ari; Maier, Ron; Moore, Ernest E; Peitzman, Andrew B; Podda, Mauro; Sartelli, Massimo; Scalea, Thomas M; Stahel, Philip; Tan, Edward; Tolonen, Matti; Weber, Dieter; Coimbra, Raul

A deep learning approach for predicting linear accelerator output settings in automated radiotherapy planning of oligometastatic cancer

一种用于预测寡转移癌自动放射治疗计划中直线加速器输出设置的深度学习方法

Gaudreault, Mathieu; McIntosh, Lachlan; Woodford, Katrina; Li, Jason; Harden, Susan; Porceddu, Sandro; Hardcastle, Nicholas; Panettieri, Vanessa

Protocol for testing global neuronal workspace and integrated information theories of consciousness in non-human primates and mice

用于测试非人灵长类动物和小鼠的全局神经元工作空间和意识整合信息理论的方案

Gibbons, Matilda; McBride, Ethan G; Holenarasipura Venkatasubbaiah, Raghuram; Khalili-Ardali, Majid; Kuyat, Jacqulyn R; Gale, Samuel; LaFehr, Vayle; Vogler, Nathan W; Kheirkhah Ravandi, Mohammadali; Tsai, Ming-Jiun; Bennett, Corbett; Sridhar, Arjun; Hardcastle, Benjamin; Cabasco, Hannah; Koch, Christof; Naccache, Lionel; Tononi, Giulio; Olsen, Shawn; Neimark Geffen, Maria; Panagiotaropoulos, Theofanis I; Saalmann, Yuri B

Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis

炎症和代谢因素对圆锥角膜风险的影响:因果推断分析

Hysi, Pirro G; Hardcastle, Alison J; Davidson, Alice E; Szczotka-Flynn, Loretta; Khawaja, Anthony P; Liskova, Petra; Iyengar, Sudha; Hammond, Chris J; Tuft, Stephen J

Differential kinematic coding in sensorimotor striatum across behavioral domains reflects different contributions to movement

感觉运动纹状体中不同行为领域的差异性运动学编码反映了对运动的不同贡献

Hardcastle, Kiah; Marshall, Jesse D; Gellis, Amanda; Klibaite, Ugne; Bhatia, Cheshta; Wang, William L; Chalyshkan, Selimzhan; Ölveczky, Bence P