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

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders

与神经发育障碍相关的新生GABBR1和GABBR2变异的功能特征

Stawarski, Michal; Bielopolski, Noa; Roitman, Ilana; Fridman, Karen; Wald-Altman, Shane; Eitel, Megan; Hui, Benedict; Vulto-van Silfhout, Anneke; Stegmann, Alexander P A; Chirita-Emandi, Adela; Eason, Jacqueline; Bradshaw, Kirsty; Darnell, Lewis; Kostrzewa, Grażyna; Ploski, Rafal; Meurs, Romane; Batté, Amandine; Antonarakis, Stylianos E; Gassmann, Martin; Bettler, Bernhard

Modeling hepatocellular carcinoma and its microenvironment on a chip.

在芯片上模拟肝细胞癌及其微环境。

Mocellin Orsola, Treillard Stéphane, Robinson Abbie, Olczyk Aleksandra, Olivier Thomas, Ng Chee P, Stok Arthur, van Tienderen Gilles, Verstegen Monique M A, Heijmans Jeroen, Kurek Dorota, Trietsch Sebastian J, Lanz Henriëtte L, Vulto Paul, Joore Jos, Queiroz Karla

Toward Regulatory Convergence and Streamlined Biosimilar Development: Recommendations from an International Qualitative Study

迈向监管趋同和简化生物类似药开发:一项国际定性研究的建议

Car, Elif; Barbier, Liese; Schwarzenberger, Ingrid; Huys, Isabelle; Simoens, Steven; Vulto, Arnold G

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Barriers to adoption of biosimilar insulins in Europe: A mixed-methods study

欧洲生物类似胰岛素推广应用的障碍:一项混合方法研究

Car, Elif; Habets, Garm; Vulto, Arnold G; Heinemann, Lutz; Huys, Isabelle; Simoens, Steven

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity

CELF4基因N端区域的杂合变异(该区域对RNA结合活性至关重要)会导致神经发育障碍和肥胖。

Bruel, Ange-Line; Vulto-vanSilfhout, Anneke T; Bilan, Frédéric; Le Guyader, Gwenaël; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlène; Lee, Kristen N; Beil, Adelyn; Suri, Mohnish; Guerin, François; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, François; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N; Wentzensen, Ingrid M; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, Christel

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

神经发育综合征中 PP2A 调节亚基 PPP2R2B 的新生错义变异:与线粒体动力学和脊髓小脑共济失调的潜在联系

Priyanka Sandal, Chian Ju Jong, Ronald A Merrill, Grace J Kollman, Austin H Paden, Eric G Bend, Jennifer Sullivan, Rebecca C Spillmann, Vandana Shashi, Anneke T Vulto-van Silfhout, Rolph Pfundt, Bert B A de Vries, Pan P Li, Louise S Bicknell, Stefan Strack1

Phenotypic screening in Organ-on-a-Chip systems: a 1537 kinase inhibitor library screen on a 3D angiogenesis assay

器官芯片系统中的表型筛选:基于 3D 血管生成试验的 1537 激酶抑制剂库筛选

Camilla Soragni #, Karla Queiroz #, Chee Ping Ng #, Arthur Stok, Thomas Olivier, Dora Tzagkaraki, Jeroen Heijmans, Johnny Suijker, Sander P M de Ruiter, Aleksandra Olczyk, Marleen Bokkers, Frederik Schavemaker, Sebastian J Trietsch, Henriëtte L Lanz, Paul Vulto, Jos Joore

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy

SYN1相关癫痫的电临床特征和功能连接分析

Moya Quiros, Vincent; Adham, Ahmed; Convers, Philippe; Lesca, Gaetan; Mauguiere, François; Soulier, Hugo; Arzimanoglou, Alexis; Bayat, Allan; Braakman, Hilde; Camdessanche, Jean-Philippe; Casenave, Philippe; Chaton, Laurence; Chaix, Yves; Chochoi, Maxime; Depienne, Christel; Desportes, Vincent; De Ridder, Jessie; Dinkelacker, Vera; Gardella, Elena; Kluger, Gerhard J; Jung, Julien; Lemesle Martin, Martine; Mancardi, Maria Margherita; Mueller, Markus; Poulat, Anne-Lise; Platzer, Konrad; Roubertie, Agathe; Stokman, Marijn F; Vulto-van Silfhout, Anneke T; Wiegand, Gert; Mazzola, Laure

Using organ-on-a-chip technology to study haemorrhagic activities of snake venoms on endothelial tubules

利用器官芯片技术研究蛇毒对内皮小管的出血活性

Mátyás A Bittenbinder #, Flavio Bonanini #, Dorota Kurek, Paul Vulto, Jeroen Kool, Freek J Vonk