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

Pavlov's experiment-inspired optical neural networks based on dual-color fluorescence switching effect

受巴甫洛夫实验启发,基于双色荧光开关效应的光学神经网络

Wei, Songrui; Huang, Kunbin; Wang, Dingchen; Yang, Shangcheng; Huang, Haiyan; Tang, Xiao; Ge, Yanqi; Du, Bowen; Chen, Zhi; Wang, Zhongrui; Chen, Shuqing; Fixler, Dror; Fan, Dianyuan; Zhang, Han

Prospective multicenter study of ctDNA versus tumor tissue guiding FGFR-targeted therapy in metastatic urothelial cancer

一项前瞻性多中心研究比较了ctDNA与肿瘤组织在指导转移性尿路上皮癌FGFR靶向治疗中的应用

Müller, David C; Murtha, Andrew J; Bacon, Jack V W; Stephenson, Maria; Wells, Connor; Vasquez-Rios, Carlos; Rostin, Kimia; Rebane, Lisa; Schönlau, Elena; Nikkola, Jussi; Alimohamed, Nimira; Basappa, Naveen S; Finch, Daygen; Ko, Jenny J; Lavoie, Jean-Michel; Nappi, Lucia; Noonan, Krista; Ong, Michael; Ozgun, Guliz; Parimi, Sunil; Soleimani, Maryam; Sridhar, Srikala S; Toren, Paul; Winquist, Eric; Bernales, Cecily Q; Koudjanian, Melissa; Atwal, Jaskirat; Fung, Emily; Khan, Laiba; Eigl, Bryndan; Othman, Dalia; Bismar, Tarek A; Wang, Gang; Merza, Reem; Papadakis, Andreas I; Spatz, Alan; Kollmannsberger, Christian; Maurice-Dror, Corinne; Annala, Matti; Chi, Kim N; Vandekerkhove, Gillian; Wyatt, Alexander W; Eigl, Bernhard J

Adolescent to adulthood weight trajectories and the risk of obesity-related cancers, overall and early-onset: a population-based cohort study

青少年至成年期体重变化轨迹与肥胖相关癌症(包括总体癌症和早发性癌症)风险:一项基于人群的队列研究

Bendor, Cole D; Bardugo, Aya; Tsur, Avishai M; Derazne, Estela; Shemesh, Itay I; Bourvine, Lotmit; Dicker, Dror; Boursi, Ben; Tirosh, Amir; Afek, Arnon; Rotem, Ran S; Chodick, Gabriel; Twig, Gilad

Monlunabant in adults with obesity and metabolic syndrome: Open-label extension of a phase 2a trial

Monlunabant治疗肥胖和代谢综合征成人:一项2a期试验的开放标签扩展研究

Knop, Filip K; Kunos, George; Dicker, Dror; Paquette, Jean-Sebastien; Aronne, Louis; Birkhan, Oscar; Frenkel, Ofir; Holst-Hansen, Thomas; Lalonde, Karine; Crater, Glenn

Weight Loss as a Determinant of Histological Improvement in Metabolic Dysfunction-Associated Steatotic Liver Disease in People With Obesity. A Systematic Review and Network Meta-Analysis of Randomised Clinical Trials

体重减轻作为肥胖患者代谢功能障碍相关脂肪肝组织学改善的决定因素:一项随机临床试验的系统评价和网络荟萃分析

Monami, Matteo; Belluzzi, Amanda; Buscemi, Silvio; Busetto, Luca; Cohen, Ricardo; De Luca, Maurizio; Galli, Andrea; Mannucci, Edoardo; Petry, Tarissa Z; Ragghianti, Benedetta; Sbraccia, Paolo; Dicker, Dror

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population

以色列人群遗传性视网膜疾病的遗传图谱

Shalom, Sapir; Gradstein, Libe; Pras, Eran; Valensi, Johanna; Birk, Ohad S; Blumenfeld, Anat; Eilat, Avital; Macarov, Michal; Poleg, Tomer; Cremers, Frans P M; Roosing, Susanne; Panneman, Daan M; Hollander, Nadin; Goldenberg-Cohen, Nitza; Yahalom, Claudia; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror

Correction to: Epidemiology Landscape and Impact of Overweight and Obesity in Adults: Multi-country Results from the IMPACT-O Study

更正:成人超重和肥胖的流行病学概况及影响:IMPACT-O 研究的多国结果

Artime, Esther; Spaepen, Erik; Zimner-Rapuch, Sarah; Lampropoulou, Anastasia; Adam, Atif; Lin, Xiaoyu; Shang, Mengyuan; Seager, Sarah; Le Roux, Carel W; Dicker, Dror

Burosumab in infants with X-linked hypophosphatemic rickets: a case series

布罗索单抗治疗X连锁低磷性佝偻病患儿:病例系列研究

Regev, Ravit; Brener, Avivit; Dror, Nitzan; Krespi, Raphael; Rapalino, Rebeca; Chorna, Efrat; Borger, Ophir; Lopez, Adar; Lebenthal, Yael; Zeitlin, Leonid

Comparative Effectiveness of Autologous Blood Clot Therapy (ActiGraft), Autologous Micrograft Therapy (Rigenera), and Advanced Wound Dressings for Refractory Chronic Lower Limb Ulcers: A Real-World Evidence Study

自体血凝块疗法(ActiGraft)、自体微移植疗法(Rigenera)和高级伤口敷料治疗难治性慢性下肢溃疡的疗效比较:一项真实世界证据研究

Khatib, Muhammad; Robinson, Dror; Lavon, Eitan; Qawasmi, Feras; Abu Rashed, Waseem; Murad, Hamza; Maximov, Yaffa; Mahamid, Assil; Yassin, Mustafa