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

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

纳米孔长读长测序技术可帮助危重病人实现超快速诊断和紧急临床决策。

Smits, Daphne J; Ferraro, Federico; Drost, Mark; van der Linde, Herma C; de Graaf, Bianca M; van Bever, Yolande; Brooks, Alice S; Bardina, Livija; Brüggenwirth, Hennie T; Debuy, Christophe; Donker Kaat, Laura; van Dijk, Bastiaan T; van Engelen, Nienke; Geeven, Geert; van de Graaf, Raoul; van Haaften-Visser, Désirée Y; van Hasselt, Peter M; Heijsman, Daphne; Hendriks, Yvonne M C; Hitti-Malin, Rebekkah J; Hoefsloot, Lies H; Huijbregts, Glenn; IJspeert, Hanna; Lamballais, Sander; Mijalkovic, Jona; Mol, Merel O; Nawawi, Diënna; Nederpelt, Nadine; Nibbeling, Esther A R; Te Rijdt, Wouter; Schot, Rachel; van Slegtenhorst, Marjon; Sleutels, Frank; Ulenkate, Eva L M; Van Veghel-Plandsoen, Monique; Verhagen, Judith M A; Vos, David; Wauters, Erwin; Wilke, Martina; Sylva, Marc; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kleefstra, Tjitske; Rots, Dmitrijs; Verhoeven, Virginie J M

Community Science: Big Insights From Small Mammal Data

社区科学:从小型哺乳动物数据中获得重大启示

Sherbourne, Marion; Ward, Meghan; Stager, Meagan; Cohen, Shelby; van Haaften, Lucy; Burgess, Thomas; Hughes, Bryan; Bowman, Jeff

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

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

基于成像流式细胞术的细胞筛查阐明了具有意义未明变异的个体的病理生理学

Muffels, Irena Josephina Johanna; Waterham, Hans R; D'Alessandro, Giuseppina; Zagnoli-Vieira, Guido; Sacher, Michael; Lefeber, Dirk J; Van der Vinne, Celine; Roifman, Chaim M; Gassen, Koen L I; Rehmann, Holger; Van Haaften-Visser, Desiree Y; Nieuwenhuis, Edward S S; Jackson, Stephen P; Fuchs, Sabine A; Wijk, Femke; van Hasselt, Peter

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

长读长测序可识别脊髓性肌萎缩症中 SMN 基因转换的拷贝特异性标记

Zwartkruis M M, Elferink M G, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens I J, Green J W, Kortooms J V, Vermeulen C, Straver R, van Deutekom H W M, Veldink J H, Asselman F, Tizzano E F, Wadman R I, van der Pol W L, van Haaften G W, Groen E J N

Broad Vitamin B(6)-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

斑马鱼低磷酸血症(TNSALP 缺乏症)模型中广泛的维生素 B(6) 相关代谢紊乱

Ciapaite Jolita, Albersen Monique, Savelberg Sanne M C, Bosma Marjolein, Meijer Nils W F, Tessadori Federico, Bakkers Jeroen P W, van Haaften Gijs, Jans Judith J, Verhoeven-Duif Nanda M

Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy

对SMN2的全面分析排除了DNA甲基化作为脊髓性肌萎缩症表观遗传生物标志物的可能性。

Maria M Zwartkruis ,Joris V Kortooms ,Demi Gommers ,Martin G Elferink ,Ilaria Signoria ,Joyce van der Sel ,Paul J Hop ,Ramona A J Zwamborn ,Robin Geene ,Jared W Green ,Hanneke W M van Deutekom ,Wouter van Rheenen ,Jan H Veldink ,Fay-Lynn Asselman ,Renske I Wadman ,W Ludo van der Pol ,Gijs W van Haaften ,Ewout J N Groen

Treatment of overactive K(ATP) channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome

在斑马鱼模型中用格列本脲治疗过度活跃的K(ATP)通道,以及在患有坎图综合征的人类中进行临床试验

Kleinendorst, Lotte; Siegelaar, Sarah E; Roessler, Helen I; Meiwand, Lema; van den Boogaard, Malou; de Bruin-Bon, Rianne H A C M; van Duinen, Kirsten F; Planken, R Nils; Jaspars, Elisabeth H; Kemperman, Patrick M J H; Bouma, Berto J; Nichols, Colin G; Bekkenk, Marcel W; van Haaften, Gijs W; van Haelst, Mieke M

Synthesis and Absolute Configuration of the Sesquiterpene Lactone EPD, a Natural Product with Broad Antitumor Cell Activity via a Unique Mechanism of Action

倍半萜内酯EPD的合成及绝对构型:一种具有广谱抗肿瘤细胞活性的天然产物,其作用机制独特

van Haaften, Caroline; Koek, Jan; van Eendenburg, Jaap D H; van Wiltenburg, Jim; Kluitmans, Daphne J F; Grobben, Yvonne; Zaman, Guido J R; Ten Hoeve, Wolter

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

荷兰遗传代谢疾病转化知识议程的发展

Hieltjes, I J; van der Lee, J H; Groenendijk, M C; van Haaften, G; van Hasselt, P M; Lunsing, R J; van Prooijen, G J J; de Ruiter, E M; van Spronsen, F J; Verhoeven-Duif, N M; de Vreugd, A; Wagenmakers, M; Zweers, H; Dekker, H; Waterham, H R; van Karnebeek, C D; Wanders, R J A; Wevers, R A