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

Temporal robustness of biomarker-based classification algorithms for sepsis

基于生物标志物的脓毒症分类算法的时间鲁棒性

Rademaker, Emma; van Amstel, Rombout B E; El Bouhaddani, Said; Bonten, Marc J M; Derde, Lennie P G; van Vught, Lonneke; van der Poll, Tom; Bos, Lieuwe D J; de Grooth, Harm-Jan; Cremer, Olaf L

Durable Thin-Film Porous Transport Electrodes for High Current Density PEM Water Electrolysis

用于高电流密度PEM水电解的耐用薄膜多孔传输电极

Young, James L; Beltrán, Diana E; Blair, Sarah J; Duarte, Ricardo P M; Parimuha, Makenzie R; Yu, Haoran; van Eijk, Lonneke; Reeves, Kimberly S; Grejtak, Tomas; Martinez, Jorge; Chao, Bennett A; Wrubel, Jacob; Kreider, Melissa E; Miller, Elisa M; Lenef, Julia D; Heinselman, Karen N; Pylypenko, Svitlana; Cullen, David A; Bender, Guido

Identification of a type 1 diabetes-associated T cell receptor repertoire signature from the human peripheral blood

从人外周血中鉴定出与1型糖尿病相关的T细胞受体库特征

Rawat, Puneet; Shapiro, Melanie R; Peters, Leeana D; Widrich, Michael; Mayer-Blackwell, Koshlan; Motwani, Keshav; Pavlović, Milena; Al Hajj, Ghadi; Posgai, Amanda L; Kanduri, Chakravarthi; Isacchini, Giulio; Chernigovskaya, Maria; Scheffer, Lonneke; Motwani, Kartik; Balzano-Nogueira, Leandro Octavio; Pettenger-Willey, Camryn M; Valkiers, Sebastiaan; Jacobsen, Laura M; Haller, Michael J; Schatz, Desmond A; Wasserfall, Clive H; Emerson, Ryan O; Fiore-Gartland, Andrew J; Atkinson, Mark A; Klambauer, Günter; Sandve, Geir Kjetil; Greiff, Victor; Brusko, Todd M

Fuzzy classification of sepsis subtypes and implications for trajectory and treatment

脓毒症亚型的模糊分类及其对疾病进程和治疗的影响

Kennedy, Jason N; Iyer, Stuthi; Nauka, Peter C; Reitz, Katherine M; Chang, Joyce; Tang, Lu; Yealy, Donald; Angus, Derek C; Amstel, Rombout B E; van Vught, Lonneke A; Seymour, Christopher W

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness

EGFLAM致病变异与先天性静止性夜盲症

Boranijasevic, Sanja; Smirnov, Vasily; Navarro, Julien; Tjon-Fo-Sang, Martha; Condroyer, Christel; Haer-Wigman, Lonneke; Antonio, Aline; Dhaenens, Claire-Marie; Verhoeven, Virginie J M; Sahel, José-Alain; van den Born, L Ingeborgh; Defoort, Sabine; Audo, Isabelle; Zeitz, Christina

Association of Brain Age With Physical Disability and Cognitive Impairment in People With Multiple Sclerosis of the Same Age

脑龄与同龄多发性硬化症患者的身体残疾和认知障碍之间的关联

Bos, Lonneke; Wink, Alle Meije; Cole, James H; Strijbis, Eva M M; Moraal, Bastiaan; Killestein, Joep; Vrenken, Hugo; Uitdehaag, Bernard M J; Barkhof, Frederik; Schoonheim, Menno M; Jasperse, Bas

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health

探索 Usher 综合征 1B 型中的细胞外囊泡微 RNA:泪液来源的细胞外囊泡作为视网膜健康的潜在指标

Bervoets, Sander; Duijkers, Lonneke; Velde, Hedwig M; Corradi, Zelia; van Oosten, Edwin M; Suárez-Herrera, Nuria; Garanto, Alejandro; Moreno-Pelayo, Miguel A; Pennings, Ronald J E; Collin, Rob W J; Vázquez-Domínguez, Irene

Psychosocial factors and the risk of cancer: An individual-participant data meta-analysis

心理社会因素与癌症风险:一项基于个体参与者数据的荟萃分析

van Tuijl, Lonneke A; Pan, Kuan-Yu; Basten, Maartje; Vermeulen, Roel; Portengen, Lützen; de Graeff, Alexander; Dekker, Joost; Geerlings, Mirjam I; Hoogendoorn, Adriaan W; Lamers, Femke; Voogd, Adri C; Abell, Jessica; Awadalla, Philip; Beekman, Aartjan T F; Bjerkeset, Ottar; Boyd, Andy; Cui, Yunsong; Frank, Philipp; Galenkamp, Henrike; Garssen, Bert; Hellingman, Sean; Huisman, Martijn; Huss, Anke; de Jong, Trynke R; Keats, Melanie R; Kok, Almar A L; Krokstad, Steinar; van Leeuwen, Flora E; Luik, Annemarie I; Noisel, Nolwenn; Payette, Yves; Penninx, Brenda W J H; Rissanen, Ina; Roest, Annelieke M; Ruiter, Rikje; Schoevers, Robert A; Soave, David; Spaan, Mandy; Steptoe, Andrew; Stronks, Karien; Sund, Erik R; Sweeney, Ellen; Twait, Emma L; Teyhan, Alison; Verschuren, W M Monique; van der Willik, Kimberly D; Rosmalen, Judith G M; Ranchor, Adelita V

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

出版商更正:长读长测序技术发现 IQCB1 基因中一个隐藏的 LINE-1/ERV1 插入突变是 Senior-Løken 综合征的致病变异。

de Bruijn, Suzanne E; Ingeborgh, Van den Born L; Derks, Ronny; Haer-Wigman, Lonneke; O'Gorman, Luke; Cremers, Frans P M; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia