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

Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype

双等位基因<italic>TMEM72</italic>变异体在具有肾痨样表型的患者中

Claus, Laura R; Snoek, Rozemarijn; Faber, Siebren; Roskothen-Shevchuk, Aurelius J C; Sendino Garví, Elena; Peters, Edith D J; Savelberg, Sanne M C; Duran, Karen; van der Zwaag, Bert; Nguyen, Tri Q; Broekhuizen, Roel; Brummelhuis, Walter J; Rookmaaker, Maarten; van der Veen, Suzanne W; Elferink, Martin G; Karras, Alexandre; Raymond, Laure; Mousseaux, Cyril; Sadeghi-Alavijeh, Omid; Sayer, John A; Olinger, Eric; Neatu, Ruxandra; Klämbt, Verena; Stokman, Marijn F; Knoers, Nine V A M; Tessadori, Federico; Gale, Daniel P; Boldt, Karsten; Ueffing, Marius; Slaats, Gisela G; Roepman, Ronald; Hildebrandt, Friedhelm; Mesnard, Laurent; van Haaften, Gijs; van Eerde, Albertien M

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

Limitations of Semi-Automated Immunomagnetic Separation of HLA-G-Positive Trophoblasts from Papanicolaou Smears for Prenatal Genetic Diagnostics

半自动免疫磁性分离巴氏涂片中 HLA-G 阳性滋养细胞用于产前遗传诊断的局限性

Eddy N de Boer, Nicole Corsten-Janssen, Elles Wierenga, Theo Bijma, Jurjen T Knapper, Gerard J Te Meerman, Gwendolyn T R Manten, Nine V A M Knoers, Katelijne Bouman, Leonie K Duin, Cleo C van Diemen

The Role of Genetic Testing in Adult CKD

基因检测在成人慢性肾脏病中的作用

Knoers, Nine V A M; van Eerde, Albertien M

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics

Cas9 定向长读测序解决白血病诊断中的光学基因组图谱发现

Eddy N de Boer, Vincent Vroom #, Arjen J Scheper #, Lennart F Johansson, Laura Bosscher, Nettie Rietema, Sabrina Z Commandeur-Jan, Nine V A M Knoers, Birgit Sikkema-Raddatz, Eva van den Berg #, Cleo C van Diemen #

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

KidneyNetwork:利用肾脏来源的基因表达数据预测和优先筛选与肾脏疾病相关的新基因

Boulogne, Floranne; Claus, Laura R; Wiersma, Henry; Oelen, Roy; Schukking, Floor; de Klein, Niek; Li, Shuang; Westra, Harm-Jan; van der Zwaag, Bert; van Reekum, Franka; Sierks, Dana; Schönauer, Ria; Li, Zhigui; Bijlsma, Emilia K; Bos, Willem Jan W; Halbritter, Jan; Knoers, Nine V A M; Besse, Whitney; Deelen, Patrick; Franke, Lude; van Eerde, Albertien M

Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure

通过大规模平行测序技术在早发性肾衰竭患者中鉴定出具有非典型表型的法布里病

de Haan, Amber; Morel, Chantal F; Eijgelsheim, Mark; de Jong, Margriet F C; Broekroelofs, Jan; Vogt, Liffert; Knoers, Nine V A M; de Borst, Martin H

Author's Reply: The Subcellular Localization of RRAGD

作者回复:RRAGD的亚细胞定位

Schlingmann, Karl P; Jouret, François; Knoers, Nine V A M; de Baaij, Jeroen H F

An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International

关于托伐普坦在常染色体显性多囊肾病中的应用最新进展:欧洲肾脏病协会遗传性肾脏疾病工作组、欧洲罕见肾脏病参考网络和国际多囊肾病协会的共识声明

Müller, Roman-Ulrich; Messchendorp, A Lianne; Birn, Henrik; Capasso, Giovambattista; Cornec-Le Gall, Emilie; Devuyst, Olivier; van Eerde, Albertien; Guirchoun, Patrick; Harris, Tess; Hoorn, Ewout J; Knoers, Nine V A M; Korst, Uwe; Mekahli, Djalila; Le Meur, Yannick; Nijenhuis, Tom; Ong, Albert C M; Sayer, John A; Schaefer, Franz; Servais, Aude; Tesar, Vladimir; Torra, Roser; Walsh, Stephen B; Gansevoort, Ron T

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

外显子跳跃治疗大疱性表皮松解症的治疗前景

Vermeer, Franciscus C; Bremer, Jeroen; Sietsma, Robert J; Sandilands, Aileen; Hickerson, Robyn P; Bolling, Marieke C; Pasmooij, Anna M G; Lemmink, Henny H; Swertz, Morris A; Knoers, Nine V A M; van der Velde, K Joeri; van den Akker, Peter C