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

Medical students' attitudes towards older persons - a systematic review and meta-analysis

医学生对老年人的态度——系统评价和荟萃分析

Vahedi, Ali; Andersson, Åsa G; Fure, Brynjar

Sequence diversity lost in early pregnancy

妊娠早期序列多样性丧失

Arnadottir, Gudny A; Jonsson, Hakon; Hartwig, Tanja Schlaikjær; Gruhn, Jennifer R; Møller, Peter Loof; Gylfason, Arnaldur; Westergaard, David; Chan, Andrew Chi-Ho; Oddsson, Asmundur; Stefansdottir, Lilja; Roux, Louise le; Steinthorsdottir, Valgerdur; Swerford Moore, Kristjan H; Olafsson, Sigurgeir; Olason, Pall I; Eggertsson, Hannes P; Halldórsson, Gísli H; Walters, G Bragi; Stefansson, Hreinn; Gudjonsson, Sigurjon A; Palsson, Gunnar; Jensson, Brynjar O; Fridriksdottir, Run; Petersen, Jesper Friis; Helgason, Agnar; Norddahl, Gudmundur L; Rohde, Palle Duun; Saemundsdottir, Jona; Magnusson, Olafur Th; Halldorsson, Bjarni V; Bliddal, Sofie; Banasik, Karina; Gudbjartsson, Daniel F; Nyegaard, Mette; Sulem, Patrick; Thorsteinsdottir, Unnur; Hoffmann, Eva R; Nielsen, Henriette Svarre; Stefansson, Kari

Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder

HECTD2 和 AKAP11 中罕见的失活变异会增加患双相情感障碍的风险。

Thorgeirsson, Thorgeir E; Tragante, Vinicius; Sveinbjornsson, Gardar; Jonsdottir, Gudrun A; Walters, G Bragi; Ivarsdottir, Erna V; Arnadottir, Gudny A; Sturluson, Arni; Jensson, Brynjar O; Fridriksdottir, Run; Skuladottir, Astros Th; Einarsson, Gudmundur; Bjornsdottir, Gyda; Gunnarsson, Arni F; Gisladottir, Rosa S; Sigurdsson, Asgeir; Oddsson, Asmundur; Jonsson, Hakon; Magnusson, Olafur Th; Helgason, Hannes; Norddahl, Gudmundur; Thorleifsson, Gudmar; Haraldsson, Magnus; Sigurdsson, Engilbert; Holm, Hilma; Masson, Gisli; Gudbjartsson, Daniel F; Stefansson, Hreinn; Sulem, Patrick; Stefansson, Kari

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

小核RNA基因RNU2-2的突变会导致严重的神经发育障碍,并伴有明显的癫痫症状。

Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Solà, Marta; Jensson, Brynjar O; Hales, Emma; Katrinecz, Andrea; Nieto Molina, Esther; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodríguez, Anna; Fernández Garoz, Bárbara; Foulds, Nicola; García-Navas Núñez, Deyanira; González Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G; Madrigal Bajo, Irene; Martinez-Monseny, Antonio F; McKee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodríguez-Revenga Bodi, Laia; Sariego Jamardo, Andrea; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Ángel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F; Barakat, Tahsin Stefan; O'Donoghue, Michael; Pérez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D; Turro, Ernest

Approaching hypercalcemia in monoclonal gammopathy of undetermined significance: insights from the iStopMM screening study

单克隆丙种球蛋白病患者出现高钙血症的风险:来自 iStopMM 筛查研究的启示

Jónsdóttir, Ástrún Helga; Sigurjónsdóttir, Helga Ágústa; Thorsteinsdóttir, Sigrun; Long, Thorir Einarsson; Sverrisdóttir, Ingigerður Sólveig; Eythorsson, Elias; Óskarsson, Jón Þórir; Palsson, Runolfur; Indridason, Olafur Skuli; Viðarsson, Brynjar; Onundarson, Pall Torfi; Ólafsson, Ísleifur; Þorsteindóttir, Ingunn; Agnarsson, Bjarni A; Sigurðardóttir, Margrét; Jónsson, Ásbjörn; Hultcrantz, Malin; Durie, Brian G M; Harding, Stephen; Landgren, Ola; Love, Thorvardur Jon; Kristinsson, Sigurður Yngvi; Rögnvaldsson, Sæmundur

New Definition of Light Chain Monoclonal Gammopathy of Undetermined Significance

意义未明的轻链单克隆丙种球蛋白病的新定义

Einarsson Long, Thorir; Rognvaldsson, Saemundur; Thorsteinsdottir, Sigrun; Sverrisdottir, Ingigerdur Solveig; Eythorsson, Elias; Oskarsson, Jon Thorir; Indridason, Olafur Skuli; Palsson, Runolfur; Aspelund, Thor; Vidarsson, Brynjar; Onundarson, Pall Torfi; Agnarsson, Bjarni Agnar; Sigurdardottir, Margret; Thorsteinsdottir, Ingunn; Olafsson, Isleifur; Thordardottir, Asdis Rosa; Jonsson, Asbjorn; Gislason, Gauti; Olafsson, Andri; Hultcrantz, Malin; Durie, Brian G M; Harding, Stephen; Love, Thorvardur Jon; Landgren, Ola; Kristinsson, Sigurdur Yngvi

Acute stroke in persons 85 years or older-clinical characteristics, impact of frailty, and predictors of outcome

85岁及以上人群急性卒中的临床特征、虚弱的影响及预后预测因素

Sanner, Johan; Thommessen, Bente; von Euler, Mia; Ström, Jakob O; Fure, Brynjar

Post-stroke health-related quality of life following lower-extremity constraint-induced movement therapy - An observational survey study

下肢约束诱导运动疗法对中风后患者健康相关生活质量的影响——一项观察性调查研究

Marklund, Ingela; Fure, Brynjar; Klässbo, Maria; Liv, Per; Stålnacke, Britt-Marie; Hu, Xiaolei

Culturally adapted meta-debriefing: a mixed-methods study of reflective practice in Spanish-speaking simulation faculty development in Chile

文化适应性元反思:智利西班牙语模拟教师发展中反思性实践的混合方法研究

Armijo-Rivera, Soledad; Vergara, Karen; Vicencio-Clarke, Scarlett; Foss, Brynjar; Holtheuer, Marcia Maldonado