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

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

纳米孔长读长测序作为检测神经系统疾病中重复序列扩增的一线诊断测试

de Boer Eddy N, Scheper Arjen J, Hendriksen Dennis, Charbon Bart, van der Vries Gerben, Ten Berge Annelies M, Grootscholten Petra M, Lemmink Henny H, Jongbloed Jan D H, Bosscher Laura, Knoers Nine V A M, Swertz Morris A, Sikkema-Raddatz Birgit, Dijkstra Dorieke J, Johansson Lennart F, van Diemen Cleo C

An interconnected data infrastructure to support large-scale rare disease research

构建互联互通的数据基础设施,以支持大规模罕见病研究

Johansson, Lennart F; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; de Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan, Farid Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; van de Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; van der Velde, K Joeri; Veal, Colin; van der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Sergi; Swertz, Morris A; Brookes, Anthony J

Practical Barriers and Facilitators Experienced by Patients, Pharmacists and Physicians to the Implementation of Pharmacogenomic Screening in Dutch Outpatient Hospital Care-An Explorative Pilot Study

荷兰门诊医院实施药物基因组学筛查过程中患者、药剂师和医生遇到的实际障碍和促进因素——一项探索性试点研究

Lanting, Pauline; Drenth, Evelien; Boven, Ludolf; van Hoek, Amanda; Hijlkema, Annemiek; Poot, Ellen; van der Vries, Gerben; Schoevers, Robert; Horwitz, Ernst; Gans, Reinold; Kosterink, Jos; Plantinga, Mirjam; van Langen, Irene; Ranchor, Adelita; Wijmenga, Cisca; Franke, Lude; Wilffert, Bob; Sijmons, Rolf

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

常规诊断中高分辨率芯片检测到的拷贝数增加结果解读的实用指南

Hanemaaijer, Nicolien M; Sikkema-Raddatz, Birgit; van der Vries, Gerben; Dijkhuizen, Trijnie; Hordijk, Roel; van Essen, Anthonie J; Veenstra-Knol, Hermine E; Kerstjens-Frederikse, Wilhelmina S; Herkert, Johanna C; Gerkes, Erica H; Leegte, Lamberta K; Kok, Klaas; Sinke, Richard J; van Ravenswaaij-Arts, Conny M A