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

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

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

荷兰基于NGS的新生儿筛查的未来:探索技术可能性并评估变异分类策略

Kiewiet, Gea; Westra, Dineke; de Boer, Eddy N; van Berkel, Emma; Hofste, Tom G J; van Zweeden, Martine; Derks, Ronny C; Leijsten, Nico F A; Ruiterkamp-Versteeg, Martina H A; Charbon, Bart; Johansson, Lennart; Bos-Kruizinga, Janneke; Veenstra, Inge J; de Sain-van der Velden, Monique G M; Voorhoeve, Els; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan; Sikkema-Raddatz, Birgit; Nelen, Marcel

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach

通过多步骤高通量方法鉴定导致17型视网膜色素变性的新型3D基因组改变和复杂结构变异。

de Bruijn, Suzanne E; Panneman, Daan M; Weisschuh, Nicole; Cadena, Elizabeth L; Boonen, Erica G M; Holtes, Lara K; Astuti, Galuh D N; Cremers, Frans P M; Leijsten, Nico; Corominas, Jordi; Gilissen, Christian; Skowronska, Anna; Woodley, Jessica; Beggs, Andrew D; Toulis, Vasileios; Chen, Di; Cheetham, Michael E; Hardcastle, Alison J; McLaren, Terri L; Lamey, Tina M; Thompson, Jennifer A; Chen, Fred K; de Roach, John N; Urwin, Isabella R; Sullivan, Lori S; Roosing, Susanne

In Vitro Mineralisation of Tissue-Engineered Cartilage Reduces Endothelial Cell Migration, Proliferation and Tube Formation

组织工程软骨的体外矿化减少内皮细胞迁移、增殖和管道形成

Encheng Ji, Lieke Leijsten, Janneke Witte-Bouma, Adelin Rouchon, Nunzia Di Maggio, Andrea Banfi, Gerjo J V M van Osch, Eric Farrell, Andrea Lolli

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

基因组测序作为神经发育障碍一线检测手段的性能

van der Sanden, Bart P G H; Schobers, Gaby; Corominas Galbany, Jordi; Koolen, David A; Sinnema, Margje; van Reeuwijk, Jeroen; Stumpel, Connie T R M; Kleefstra, Tjitske; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; Leijsten, Nico; Kwint, Michael; Derks, Ronny; Swinkels, Hilde; den Ouden, Amber; Pfundt, Rolph; Rinne, Tuula; de Leeuw, Nicole; Stegmann, Alexander P; Stevens, Servi J; van den Wijngaard, Arthur; Brunner, Han G; Yntema, Helger G; Gilissen, Christian; Nelen, Marcel R; Vissers, Lisenka E L M

Increasing the Sales of Suboptimal Foods with Sustainability and Authenticity Marketing Strategies

利用可持续性和真实性营销策略提升次优食品的销量

De Hooge, Ilona E; Giesen, Roxanne I van; Leijsten, Koen A H; Herwaarden, Charlene S van

A Guide to Genetic Counseling, 2(nd) Edition

遗传咨询指南(第二版)

Langmann, Thomas; Di Gioia, Silvio Alessandro; Rau, Isabella; Stöhr, Heidi; Maksimovic, Nela S; Corbo, Joseph C; Renner, Agnes B; Zrenner, Eberhart; Kumaramanickavel, Govindasamy; Karlstetter, Marcus; Arsenijevic, Yvan; Weber, Bernhard H F; Gal, Andreas; Rivolta, Carlo; VanderWeele, Tyler J; Garber, Kathryn B; Bungartz, Kathryn D; Williamson, Robin E; Volpi, Ludovica; Roversi, Gaia; Colombo, Elisa Adele; Leijsten, Nico; Concolino, Daniela; Calabria, Andrea; Mencarelli, Maria Antonietta; Fimiani, Michele; Macciardi, Fabio; Pfundt, Rolph; Schoenmakers, Eric FPM; Larizza, Lidia; Fox, Michelle