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

Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report

常染色体显性遗传FTH1变异导致脑桥小脑发育不全和迟发性神经铁蛋白病:病例报告

Hebbink, Jasmijn Annemiek; Niermeijer, Jikke-Mien F; Vroegindeweij, Elene; de Vries, Bert B A; Pegge, Sjoert; Kamsteeg, Erik-Jan; Willemsen, Michel A A P

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

The impact of positive surgical margins after cystectomy on oncological outcomes: a nationwide study

膀胱切除术后阳性手术切缘对肿瘤预后的影响:一项全国性研究

Bosveld, Jikke; Nguyen, Tri Q; Boormans, Joost L; Witjes, J Alfred; van der Heijden, Antoine G; Mehra, Niven; Kiemeney, Lambertus A; Aben, Katja K H; Meijer, Richard P; Richters, Anke

Failing maternal-fetal tolerance in SLE (FaMaLE): a prospective cohort study for finding the molecular mechanisms behind pregnancy complications

系统性红斑狼疮(SLE)患者母胎耐受性丧失(FaMaLE):一项旨在揭示妊娠并发症分子机制的前瞻性队列研究

Dankers, Wendy; van Ruitenbeek, Jikke F; Germe, Serife Asya; Parra Sánchez, Agner R; van Gaal, Mirte F H M; Hortensius, Marjolein; Cramer, Kyra; Rohrich-Heldens, Daphne C; de Boer, Marjon; van Baarsen, Lisa G M; Bultink, Irene E M

Pediatric Early Warning Score in interhospital ambulance care: a pilot study exploring feasibility and impact

儿童早期预警评分在院间救护车服务中的应用:一项探索可行性和影响的试点研究

Luijmes, Marie; Stevens, Jikke; Diets, Nicolette; Tolsma, Rudolf; de Groot, Janke; Fuijkschot, Joris

Implementing a national Dutch PEWS system in 12 hospitals with different contexts: opportunities, challenges and implications

在12家背景各异的医院实施荷兰国家级儿科早期预警评分系统:机遇、挑战和启示

Stevens, Jikke; de Jong, Tessa; Willemsen, Michèl A; Fuijkschot, Joris; de Groot, Janke

Ex vivo fluorescence-guided resection margin assessment in breast cancer surgery using a topically applied, cathepsin-activatable imaging agent.

利用局部应用的组织蛋白酶激活成像剂进行乳腺癌手术中离体荧光引导切缘评估

Linders Daan G J, Bijlstra Okker D, Walker Ethan, March Taryn L, Pool Martin, Valentijn A Rob P M, Dijkhuis Tom H, Woltering Jikke N, Pijl Floor R, Noordam Gilbert, van den Burg Davey, van der Sijp Joost R M, Guicherit Onno R, Marinelli Andreas W K S, Burggraaf Jacobus, Rissmann Robert, Bogyo Matthew, Hilling Denise E, Kuppen Peter J K, Straight Brian, Straver Marieke E, Hazelbag Hans Marten, Basilion James P, Vahrmeijer Alexander L

Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies

人类死后器官型脑切片培养:研究病理机制和测试疗法的工具

Bonnie C Plug, Ilma M Revers #, Marjolein Breur #, Gema Muñoz González, Jaap A Timmerman, Niels R C Meijns, Daniek Hamberg, Jikke Wagendorp, Erik Nutma, Nicole I Wolf, Antonio Luchicchi, Huibert D Mansvelder, Niek P van Til, Marjo S van der Knaap, Marianna Bugiani

Study protocol of a national multicentre prospective evaluation study assessing the validity and impact of the Dutch Paediatric Early Warning Score (PEWS) in the Netherlands

一项评估荷兰儿童早期预警评分(PEWS)在荷兰的有效性和影响的全国多中心前瞻性评估研究的研究方案

Stevens, Jikke; de Groot, Janke; Luijmes, Marie; Bouwens, Janneke; Rippen, Hester; Hoogervorst-Schilp, Janneke; Fuijkschot, Joris

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

新发 PHF5A 变异与颅面畸形、发育迟缓和尿道下裂有关

Frederike L Harms, Alexander J M Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Christian Casar, Christian Müller, Jikke-Mien F Niermeijer, Jan Fischer, Arne Jahn, Christoph Hübner, Silvia Majore, Emanuele Agolini, Antonio Novelli, Jasper van der Smagt, Robert Ernst, Ellen van Binsbergen, G