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

Assessing Nutraceuticals for Hepatic Steatosis: A Standardized In Vitro Approach

评估营养保健品对肝脂肪变性的影响:一种标准化的体外方法

Palasantzas, Victoria E J M; Struik, Dicky; Bos, Trijnie; Withoff, Sebo; Fu, Jingyuan; Jonker, Johan W; Hoogerland, Joanne A

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions

开发 Del2Phen:一种用于染色体缺失的新型表型描述工具

Rraku, Eleana; Medina, Tyler D; van Ravenswaaij-Arts, Conny M A; Slofstra, Mariska K; Swertz, Morris A; Dijkhuizen, Trijnie; Johansson, Lennart F; Engwerda, Aafke

Precision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production

精密切割的肝切片作为体外模型来评估肝葡萄糖生成受损

Ligia Akemi Kiyuna #, Kishore Alagere Krishnamurthy #, Esther B Homan, Miriam Langelaar-Makkinje, Albert Gerding, Trijnie Bos, Dorenda Oosterhuis, Ruben J Overduin, Andrea B Schreuder, Vincent E de Meijer, Peter Olinga, Terry G J Derks, Karen van Eunen, Barbara M Bakker, Maaike H Oosterveer

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

基于社交媒体和文献资料的大型队列研究揭示了末端 6q 缺失的表型谱:DLL1 的重要作用

Engwerda, Aafke; Kerstjens-Frederikse, Wilhelmina S; Corsten-Janssen, Nicole; Dijkhuizen, Trijnie; van Ravenswaaij-Arts, Conny M A

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

基于社交媒体队列和文献综述的末端和亚末端6p缺失的表型谱

Rraku, Eleana; Kerstjens-Frederikse, Wilhelmina S; Swertz, Morris A; Dijkhuizen, Trijnie; van Ravenswaaij-Arts, Conny M A; Engwerda, Aafke

Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR-associated protein 9-Mediated Gene Editing

利用体细胞 CRISPR/CRISPR 相关蛋白 9 介导的基因编辑技术构建小鼠 1a 型糖原贮积症肝病表型异质性模型

Rutten, Martijn G S; Derks, Terry G J; Huijkman, Nicolette C A; Bos, Trijnie; Kloosterhuis, Niels J; van de Kolk, Kees C W A; Wolters, Justina C; Koster, Mirjam H; Bongiovanni, Laura; Thomas, Rachel E; de Bruin, Alain; van de Sluis, Bart; Oosterveer, Maaike H

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

重新解释、重新分类及其后续影响:临床实验室遗传学家面临的挑战

El Mecky, Julia; Johansson, Lennart; Plantinga, Mirjam; Fenwick, Angela; Lucassen, Anneke; Dijkhuizen, Trijnie; van der Hout, Annemieke; Lyle, Kate; van Langen, Irene

Copy number variation in a hospital-based cohort of children with epilepsy

医院癫痫患儿队列中的拷贝数变异

Danique R M Vlaskamp ,Petra M C Callenbach ,Patrick Rump ,Lucia A A Giannini ,Trijnie Dijkhuizen ,Oebele F Brouwer ,Conny M A van Ravenswaaij-Arts

Gut microbiota inhibit Asbt-dependent intestinal bile acid reabsorption via Gata4

肠道菌群通过Gata4抑制Asbt依赖的肠道胆汁酸重吸收

Out, Carolien; Patankar, Jay V; Doktorova, Marcela; Boesjes, Marije; Bos, Trijnie; de Boer, Sanna; Havinga, Rick; Wolters, Henk; Boverhof, Renze; van Dijk, Theo H; Smoczek, Anna; Bleich, André; Sachdev, Vinay; Kratky, Dagmar; Kuipers, Folkert; Verkade, Henkjan J; Groen, Albert K

Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling

使用基于微阵列的基因组分析识别慢性淋巴细胞白血病中预后相关的染色体异常

Marian Jpl Stevens-Kroef, Eva van den Berg, Daniel Olde Weghuis, Ad Geurts van Kessel, Rolph Pfundt, Matty Linssen-Wiersma, Marloes Benjamins, Trijnie Dijkhuizen, Patricia Jta Groenen, Annet Simons