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

Mechanical Thrombectomy and Final Infarct Volume in Medium or Distal Vessel Occlusion Stroke: A Post Hoc Analysis of a Randomized Clinical Trial

机械取栓术与中远端血管闭塞性卒中最终梗死体积:一项随机临床试验的事后分析

Anastasiou, Aikaterini; Corbaz, Hélène; Christodoulou, Evangelia; Albers, Gregory W; Heit, Jeremy J; Tsivgoulis, Georgios; Müller, Lioba; van Es, Adriaan; Kruyt, Nyika D; Staals, Julie; van Zwam, Wim; Dassen, Sterre; Dobrocky, Tomas; Hajdu, Steven D; van den Bergh, Frans; Rommers, Nikki; Aebischer, Vera; Brehm, Alex; Fischer, Urs; Psychogios, Marios

Healing of ischemic injury in the retina

视网膜缺血性损伤的愈合

Becker, Silke; L'Ecuyer Morison, Zia; Allen, Jordan; Saeid, Sama; Sturgis, Lee; Adderley, Austin; Koskelainen, Ari; Vinberg, Frans

Multidimensional Recovery of Young Secondary Forests in Human-Modified Tropical Landscapes

人类活动影响下的热带景观中幼龄次生林的多维度恢复

Matsuo, Tomonari; Poorter, Lourens; Amissah, Lucy; Laurance, Susan G W; Martínez-Ramos, Miguel; Meave, Jorge A; Bongers, Frans; van der Sande, Masha T; Kok, Jazz; Marteijn, Laura; Zavala, Luis Octavio; Hordijk, Iris

Effectiveness of video consultations in type 1 diabetes patients treated with insulin pumps in the outpatient clinic: a randomised controlled trial

视频咨询对门诊接受胰岛素泵治疗的1型糖尿病患者的有效性:一项随机对照试验

Schultz, Anders N Ø; Christensen, Robin; Bollig, Georg; Kidholm, Kristian; Brandt, Frans

ALK-positive histiocytosis and a clonally related chronic myelomonocytic leukemia

ALK阳性组织细胞增生症和克隆相关的慢性粒单核细胞白血病

Breimer, Gerben E; Rozeman, Elisa A; Braunius, Weibel W; Daenen, Laura G M; Kester, Lennart A; Leguit, Roos J; Mahieu, Rutger; Solleveld-Westerink, Nienke; Straatman, Louise; Schutgens, Frans

Clobazam versus corticosteroid for developmental and epileptic encephalopathy with spike-wave activation in sleep ((D)EE-SWAS): Results of a multicenter observational study

氯巴占与皮质类固醇治疗睡眠期棘慢波激活发育性和癫痫性脑病((D)EE-SWAS):一项多中心观察性研究的结果

van Arnhem, Marleen M L; Vijn, Linde J; Rubboli, Guido; Khinchi, Marianne Søndergaard; Dimova, Petia; Perucca, Emilio; De Giorgis, Valentina; Metsähonkala, Liisa; Ramantani, Georgia; Jansen, Anna; Chin, Richard; Lagae, Lieven; Arzimanoglou, Alexis; Otte, Wim M; Leijten, Frans S S; van Teeseling, Heleen C; Braun, Kees P J; Jansen, Floor E; van den Munckhof, Bart

Non-HLA Risk Loci ERBB3/IKZF4 and ERBB2/IKZF3/GSDMB/ORMDL3 Interact to Influence Progression of Autoimmunity in Relatives of T1D Patients

非HLA风险位点ERBB3/IKZF4和ERBB2/IKZF3/GSDMB/ORMDL3相互作用影响1型糖尿病患者亲属自身免疫性疾病的进展

Mertens, Ina M; Keymeulen, Bart; Gorus, Frans K; Van De Casteele, Mark

Seasonal viruses modify short-term air pollution effects on pediatric wheeze and asthma: a time-series study

季节性病毒会改变短期空气污染对儿童喘息和哮喘的影响:一项时间序列研究

Louman, Sam; van Stralen, Karlijn J; van Vlijmen, Sophie; Wage, Kaj; Hendrix, Emile; van der Aa, Leontien; Plötz, Frans B; Hol, Jeroen; Kooter-Bechan, Anjali; Tusscher, Gavin Ten; Hoek, Gerard; Boehmer, Annemie L M

Interaction between HLA-B leader peptide variants and cytomegalovirus serostatus is associated with early T cell-mediated rejection in kidney transplantation

HLA-B前导肽变体与巨细胞病毒血清状态之间的相互作用与肾移植早期T细胞介导的排斥反应相关。

Peereboom, Emma T M; Jonker, Jip; Geneugelijk, Kirsten; van Zuilen, Arjan D; Bungener, Laura B; Verduyn Lunel, Frans M; Sanders, Jan Stephan F; Bakker, Stephan J L; Spierings, Eric