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

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience

用于男性不育症诊断性基因检测的创新型一体化外显子组测序策略:验证及10个月经验

Oud, Manon S; de Leeuw, Nicole; Smeets, Dominique F C M; Ramos, Liliana; van der Heijden, Godfried W; Timmermans, Raoul G J; van de Vorst, Maartje; Hofste, Tom; Kempers, Marlies J E; Stokman, Marijn F; D'Hauwers, Kathleen W M; Faas, Brigitte H W; Westra, Dineke

The added value of chemotherapy after secondary cytoreductive surgery in unifocal versus multifocal first recurrent epithelial ovarian cancer: A systematic review

单灶性与多灶性首次复发性上皮性卵巢癌二次细胞减灭术后化疗的附加价值:系统评价

van de Vorst, R E W M; Huiskamp, M D; Gort, E H; Witteveen, P O; Zweemer, R P; Gerestein, C G

The Clock Drawing Test: A Valid Screening Instrument for Dementia Detection in Low-Educated Patients?

画钟测试:一种用于筛查低教育程度患者痴呆症的有效工具?

Boots-van der Heiden, Janique; van Campen, Jos; Kooistra, Tessa; van de Vorst, Irene; Goudsmit, Miriam

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

基于临床级全基因组测序的单倍体技术能够进行所有形式的胚胎植入前遗传学检测。

Janssen, Anouk E J; Koeck, Rebekka M; Essers, Rick; Cao, Ping; van Dijk, Wanwisa; Drüsedau, Marion; Meekels, Jeroen; Yaldiz, Burcu; van de Vorst, Maartje; de Koning, Bart; Hellebrekers, Debby M E I; Stevens, Servi J C; Sun, Su Ming; Heijligers, Malou; de Munnik, Sonja A; van Uum, Chris M J; Achten, Jelle; Hamers, Lars; Naghdi, Marjan; Vissers, Lisenka E L M; van Golde, Ron J T; de Wert, Guido; Dreesen, Jos C F M; de Die-Smulders, Christine; Coonen, Edith; Brunner, Han G; van den Wijngaard, Arthur; Paulussen, Aimee D C; Zamani Esteki, Masoud

Subtle Patterns of Altered Responsiveness to Delayed Auditory Feedback during Finger Tapping in People Who Stutter

口吃患者在手指敲击过程中对延迟听觉反馈的反应存在细微的改变模式

Lazzari, Giorgio; van de Vorst, Robert; van Vugt, Floris T; Lega, Carlotta

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

对 1192 例视网膜色素变性和莱伯氏先天性黑蒙先证者的 113 个基因进行经济有效的序列分析

Panneman, Daan M; Hitti-Malin, Rebekkah J; Holtes, Lara K; de Bruijn, Suzanne E; Reurink, Janine; Boonen, Erica G M; Khan, Muhammad Imran; Ali, Manir; Andréasson, Sten; De Baere, Elfride; Banfi, Sandro; Bauwens, Miriam; Ben-Yosef, Tamar; Bocquet, Béatrice; De Bruyne, Marieke; de la Cerda, Berta; Coppieters, Frauke; Farinelli, Pietro; Guignard, Thomas; Inglehearn, Chris F; Karali, Marianthi; Kjellström, Ulrika; Koenekoop, Robert; de Koning, Bart; Leroy, Bart P; McKibbin, Martin; Meunier, Isabelle; Nikopoulos, Konstantinos; Nishiguchi, Koji M; Poulter, James A; Rivolta, Carlo; Rodríguez de la Rúa, Enrique; Saunders, Patrick; Simonelli, Francesca; Tatour, Yasmin; Testa, Francesco; Thiadens, Alberta A H J; Toomes, Carmel; Tracewska, Anna M; Tran, Hoai Viet; Ushida, Hiroaki; Vaclavik, Veronika; Verhoeven, Virginie J M; van de Vorst, Maartje; Gilissen, Christian; Hoischen, Alexander; Cremers, Frans P M; Roosing, Susanne

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases

利用单分子分子反转探针作为一种经济高效的高通量测序方法,靶向所有与黄斑疾病相关的基因和位点。

Hitti-Malin, Rebekkah J; Dhaenens, Claire-Marie; Panneman, Daan M; Corradi, Zelia; Khan, Mubeen; den Hollander, Anneke I; Farrar, G Jane; Gilissen, Christian; Hoischen, Alexander; van de Vorst, Maartje; Bults, Femke; Boonen, Erica G M; Saunders, Patrick; Roosing, Susanne; Cremers, Frans P M

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

白细胞介素-1通路中罕见和常见基因变异对人类细胞因子反应的影响

van Deuren, Rosanne C; Arts, Peer; Cavalli, Giulio; Jaeger, Martin; Steehouwer, Marloes; van de Vorst, Maartje; Gilissen, Christian; Joosten, Leo A B; Dinarello, Charles A; Mhlanga, Musa M; Kumar, Vinod; Netea, Mihai G; van de Veerdonk, Frank L; Hoischen, Alexander

Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline

基于代谢组学的先天性代谢缺陷筛查:利用强大的计算流程增强临床应用

Hoegen, Brechtje; Zammit, Alan; Gerritsen, Albert; Engelke, Udo F H; Castelein, Steven; van de Vorst, Maartje; Kluijtmans, Leo A J; Huigen, Marleen C D G; Wevers, Ron A; van Gool, Alain J; Gilissen, Christian; Coene, Karlien L M; Kulkarni, Purva

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

更正:对巴基斯坦近亲结婚家庭进行外显子组测序,发现了30个与隐性智力障碍相关的新候选基因

Riazuddin, S; Hussain, M; Razzaq, A; Iqbal, Z; Shahzad, M; Polla, D L; Song, Y; van Beusekom, E; Khan, A A; Tomas-Roca, L; Rashid, M; Zahoor, M Y; Wissink-Lindhout, W M; Basra, M A R; Ansar, M; Agha, Z; van Heeswijk, K; Rasheed, F; Van de Vorst, M; Veltman, J A; Gilissen, C; Akram, J; Kleefstra, T; Assir, M Z; Grozeva, D; Carss, K; Raymond, F L; O'Connor, T D; Riazuddin, S A; Khan, S N; Ahmed, Z M; de Brouwer, A P M; van Bokhoven, H; Riazuddin, S