日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

Mental Health in Familial Adenomatous Polyposis: A Systematic Review

家族性腺瘤性息肉病患者的心理健康:系统性综述

Mol, M J; Bouchiba, H; Aelvoet, A S; Bennebroek Evertsz, F; Duijkers, F A M; Karstensen, J G; Bastiaansen, B A J; Dekker, E; Bleiker, E M A

The Value of Soluble Urokinase Plasminogen Activator Receptor (suPAR) as Predictive Tool in Hospitalised Patients With Community-Acquired Pneumonia (CAP)

可溶性尿激酶型纤溶酶原激活物受体(suPAR)作为社区获得性肺炎(CAP)住院患者预测工具的价值

Hessels, Lisa; Duijkers, Ruud; Schoorl, Marianne; Terpstra, Lotte; Thijs, Willemien; Boersma, Wim

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease

针对 Stargardt 病中 ABCA4 变异 c.768G>T 的剪接调节疗法的临床前评估

Dyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, Tomasz Z Tomkiewicz, Julia Kiefmann, Andrei Sarlea, Sander Bervoets, Irene Vázquez-Domínguez, Laurie L Molday, Robert S Molday, Mihai G Netea, Carel B Hoyng, Alejandro Garanto, Rob W J Collin

Efficacy, biodistribution and safety comparison of chemically modified antisense oligonucleotides in the retina

化学修饰反义寡核苷酸在视网膜中的疗效、生物分布和安全性比较

Vázquez-Domínguez, Irene; Anido, Alejandro Allo; Duijkers, Lonneke; Hoppenbrouwers, Tamara; Hoogendoorn, Anita D M; Koster, Céline; Collin, Rob W J; Garanto, Alejandro

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4

利用单个 U7snRNA 载体递送多个 AON 以恢复 ABCA4 剪接缺陷的概念验证

Suárez-Herrera, Nuria; Riswick, Iris B; Vázquez-Domínguez, Irene; Duijkers, Lonneke; Karjosukarso, Dyah W; Piccolo, Davide; Bauwens, Miriam; De Baere, Elfride; Cheetham, Michael E; Garanto, Alejandro; Collin, Rob W J

Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease

反义寡核苷酸的临床前开发,用于挽救早发性 Stargardt 病患儿中极为罕见的 ABCA4 变异引起的异常剪接

Nuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, Dyah W Karjosukarso, Zelia Corradi, Femke Bukkems, Lonneke Duijkers, Frans P M Cremers, Carel B Hoyng, Alejandro Garanto, Rob W J Collin

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

鲁宾斯坦-泰比综合征的诊断和治疗:首个国际共识声明

Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward B; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie A; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A; Tooke, Lloyd; Van der Zee, Jill A; Van Genderen, Maria M; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H M; Cueto-González, Anna M; Dominguez-Garrido, Elena; Duijkers, Floor A; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia A; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N; Smith, David F; Stevens, Markus F; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; Van Der Kaay, Daniëlle C M; Van Wijk, Michiel P; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

检测到Chung-Jansen综合征的强表观遗传特征,该特征与Börjeson-Forssman-Lehmann综合征和White-Kernohan综合征部分重叠。

Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K M; Rooney, Kathleen; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M; Vissers, Lisenka E L M; de Vries, Bert B A; Pfundt, Rolph; Elting, Mariet W; van Hagen, Johanna M; Verbeek, Nienke E; Jongmans, Marjolijn C J; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G M; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E; Ounap, Katrin; Hoffer, Mariëtte J V; Nezarati, Marjan M; van den Boogaard, Marie-José H; Tedder, Matthew L; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A M; Stuurman, Kyra E; Mannens, Marcel M A M; Alders, Mariëlle; Henneman, Peter; White, Susan M; Sadikovic, Bekim; van Haelst, Mieke M

Biomarker guided antibiotic stewardship in community acquired pneumonia: A randomized controlled trial

生物标志物指导的社区获得性肺炎抗生素管理:一项随机对照试验

Duijkers, Ruud; Prins, Hendrik J; Kross, Martijn; Snijders, Dominic; van den Berg, Jan W K; Werkman, Gwendolyn M; van der Veen, Nynke; Schoorl, Marianne; Bonten, Marc J M; van Werkhoven, Cornelis H; Boersma, Wim G