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

Outcome measurement instruments for the core outcome sets on genital gender-affirming surgery: the GenderCOS project

生殖器性别肯定手术核心结果集的结果测量工具:GenderCOS 项目

Kelly, Yvonne; Zilanawala, Afshin; Booker, Cara; Sacker, Amanda; Edqvist, Jon; Rosengren, Annika; Djekic, Demir; Lundberg, Christina E; Andréasson, Karin; Dikaiou, Pigi; Adiels, Martin; Åberg, Maria; Sattar, Naveed; Basic, Carmen; Svanvik, Teresia; Lindgren, Martin; Thunström, Erik; Angelini, Matteo; Roijer, Philippine J; Vallinga, Marleen S; Pidgeon, Thomas E; Ceulemans, Aline; Bakker, Alex; Carrière, Brenda; Rashid, Tina; Bellringer, James; Belinky, Javier; Buncamper, Marlon; Morrison, Shane D; Bouman, Walter P; van de Grift, Tim C; Bouman, Mark-Bram; Mullender, Margriet G

Heteroaryl iminothioindoxyl (HA-ITI) photoswitches via regioselective aza-Wittig synthesis: unifying red-shifted absorption, large E/Z band separation, and tunable thermal recovery

通过区域选择性氮杂维蒂希合成法制备杂芳基亚氨基硫代吲哚(HA-ITI)光开关:统一的红移吸收、大的E/Z带分离和可调的热恢复

Chen-Wu, Jialei; Benitez-Martin, Carlos; González-Delgado, José A; de Jong, Flip; Fron, Eduard; Steurs, Gert; Martínez-Martínez, Antonio J; Nájera, Francisco; Grøtli, Morten; Hofkens, Johan; Andréasson, Joakim; Pischel, Uwe

Plasma GDF-15 and PSP-D Predict the Development of Pulmonary Arterial Hypertension in Systemic Sclerosis

血浆GDF-15和PSP-D可预测系统性硬化症患者肺动脉高压的发生

Engel Sällberg, Adam; Ahmed, Salaheldin; Ahmed, Abdulla; Kania, Kriss; Carlsen, Jørn; Hesselstrand, Roger; Andréasson, Kristofer; Rådegran, Göran

Polycythemia Vera and Essential Thrombocythemia: A Nationwide Population-Based Study on Treatment Patterns, Vascular Complications and Survival

真性红细胞增多症和原发性血小板增多症:一项基于全国人口的治疗模式、血管并发症和生存率研究

Larsson, Anneli Enblom; Renlund, Henrik; Andréasson, Björn; Holmberg, Henrik; Liljeholm, Maria; Själander, Anders

Cutaneous nerve fiber pathology and function in Parkinson's disease and atypical parkinsonism - a cohort study

帕金森病和非典型帕金森综合征患者的皮肤神经纤维病理学和功能——一项队列研究

Andréasson, Mattias; Paslawski, Wojciech; Terkelsen, Astrid Juhl; Samuelsson, Kristin; Zetterberg, Henrik; Blennow, Kaj; Karlsson, Páll; Svenningsson, Per

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

编码囊泡AP-5复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良。

Karolina Kaminska,Francesca Cancellieri,Mathieu Quinodoz,Abigail R Moye,Miriam Bauwens,Siying Lin,Lucas Janeschitz-Kriegl,Tamar Hayman,Pilar Barberán-Martínez,Regina Schlaeger,Filip Van den Broeck,Almudena Ávila Fernández,Lidia Fernández-Caballero,Irene Perea-Romero,Gema García-García,David Salom,Pascale Mazzola,Theresia Zuleger,Karin Poths,Tobias B Haack,Julie Jacob,Sascha Vermeer,Frédérique Terbeek,Nicolas Feltgen,Alexandre P Moulin,Louisa Koutroumanou,George Papadakis,Andrew C Browning,Savita Madhusudhan,Lotta Gränse,Eyal Banin,Ana Berta Sousa,Luisa Coutinho Santos,Laura Kuehlewein,Pietro De Angeli,Bart P Leroy,Omar A Mahroo,Fay Sedgwick,James Eden,Maximilian Pfau,Sten Andréasson,Hendrik P N Scholl,Carmen Ayuso,José M Millán,Dror Sharon,Miltiadis K Tsilimbaris,Veronika Vaclavik,Hoai V Tran,Tamar Ben-Yosef,Elfride De Baere,Andrew R Webster,Gavin Arno,Panagiotis I Sergouniotis,Susanne Kohl,Cristina Santos,Carlo Rivolta

Norbornadiene Quadricyclane as Multimode Photoswitches: Synergistic Light and Protonation-Controlled Heat Release

降冰片二烯四环烷作为多模式光开关:协同光和质子化控制的热释放

Aslam, Adil S; Shamsabadi, Monika; Salthouse, Rebecca J; Andréasson, Joakim; Moth-Poulsen, Kasper

Haematological malignancies in systemic sclerosis: a population-based nationwide register study

系统性硬化症合并血液系统恶性肿瘤:一项基于人群的全国性登记研究

Gunnarsson, Karin; Annicchiarico, Luigi; Ravn Landtblom, Anna; Baecklund, Fredrik; Andréasson, Kristofer; Holmqvist, Marie

Caregiver burden, psychological well-being, and support needs among Swedish informal caregivers

瑞典非正式照护者的照护负担、心理健康和支持需求

Malki, Sonja Togmat; Johansson, Peter; Andersson, Gerhard; Andréasson, Frida; Mourad, Ghassan