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

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

SAXO6基因的功能缺失变异会导致迟发性视网膜营养不良,该基因编码光感受器纤毛的微管内层蛋白。

Moye, Abigail R; McCafferty, Caitlyn L; Lin, Siying; Han, Ji Hoon; Dudakova, Lubica; Rodenburg, Kim; Szabó, Viktória; Nagy, Zoltán Zsolt; Zur, Dinah; Vajter, Marie; Kousal, Bohdan; Moulin, Alexandre P; Graff-Meyer, Alexandra; Roosing, Susanne; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R; Ben-Yosef, Tamar; Liskova, Petra; Engel, Benjamin D; Zobor, Ditta; Quinodoz, Mathieu; Rivolta, Carlo

Secondary Electron Hyperspectral Imaging (SEHI) in FIB - SEM for Proton Exchange Membrane Fuel Cells Technology

用于质子交换膜燃料电池技术的FIB-SEM二次电子高光谱成像(SEHI)

Farr, Nicholas T H; Briceno de Gutierrez, Martha; S'ari, Mark; Garton, Ben; Zhang, Jingqiong; Mihaylova, Lyudmila S; Rodenburg, Cornelia

System dynamics modelling methods for public health policy evaluation: a systematic literature review focussing on mental health and substance use disorders

系统动力学建模方法在公共卫生政策评估中的应用:以精神健康和物质使用障碍为重点的系统文献综述

Valkenburg, Hendrika J; Ten Dam, Jasper; van der Werf, Sjoukje; Feenstra, Talitha L; Rodenburg, Jeroen; Wijnen, Ben F M

Functional, Cohort-Level Assessment of CFTR Modulator Responses Using Biobanked Nasal Epithelial Cells from Individuals with Cystic Fibrosis

利用囊性纤维化患者生物样本库中的鼻上皮细胞,对 CFTR 调节剂反应进行功能性、队列水平评估

Aalbers, Bente L; Amatngalim, Gimano D; Aarts, Ellen M; Rodenburg, Lisa W; den Hertog-Oosterhoff, Loes A; Heijerman, Harry G M; Beekman, Jeffrey M

Sarco/endoplasmatic reticulum calcium ATPase activity in healthy muscle and Brody disease

健康肌肉和布罗迪病中肌浆网/内质网钙ATP酶活性

Molenaar, J P; Snoeck, M M; Treves, S; Stoltenborg, B J; Wethly, K C; Oosterhof, A; Kamsteeg, E J; Sternberg, D; Doorduin, J; van Engelen, B G; Voermans, N C; Rodenburg, R J

Morphological plasticity of endophytic Chitinophaga pinensis

内生菌 Chitinophaga pinensis 的形态可塑性

Liedtke, Janine; Rodenburg, Frans; Du, Chao; Zhang, Le; Raaijmakers, Jos M; van Wezel, Gilles P; Briegel, Ariane

Ptychography at all wavelengths

所有波长的叠层成像

Wang, Ruihai; Zhao, Qianhao; Loetgering, Lars; Allars, Frederick; Hong, Zhixuan; Pennycook, Timothy J; Horstmeyer, Roarke; Rodenburg, John; Maiden, Andrew; Zheng, Guoan

Secondary Electron Hyperspectral Imaging of Carbons: New Insights and Good Practice Guide

碳的二次电子高光谱成像:新见解和良好实践指南

Nohl, James F; Farr, Nicholas T H; Acocella, Maria Rosaria; Knight, Alexander J; Hughes, Gareth M; Zhang, Jingqiong; Robertson, Stuart; Micklethwaite, Stuart; Murphy, Sean; Motlová, Tereza; Walker, Christopher; Tartakovskii, Alexander I; Mika, Filip; Pokorná, Zuzana; Tear, Steve; Pratt, Andrew; Ford, Nancy L; Hondow, Nicole; Jepson, Mark A E; Mihaylova, Lyudmila S; Reeves-McLaren, Nik; Cussen, Serena A; Rodenburg, Cornelia

Enhanced Ionic Conductivity and Electrochemical Properties of Li(2)B(12)H(12)/ZrO(2) Nanocomposites for All-Solid-State Lithium Metal Batteries

Li(2)B(12)H(12)/ZrO(2)纳米复合材料增强离子电导率和电化学性能及其在全固态锂金属电池中的应用

Hehn, Jonas D; Rodenburg, Hendrik P; Lazemi, Masoud; Verschoor, Juliette C; Perxés Perich, Marta; Sundermann, Martin; Gretarsson, Hlynur; van der Hoeven, Jessi E S; de Groot, Frank M F; de Jongh, Petra E; Ngene, Peter