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

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

大麻二酚(Epidyolex®)用于治疗结节性硬化症、III型粘多糖贮积症和脆性X综合征患者的严重行为表现:一系列随机、安慰剂对照的N-of-1试验方案

Müller, A R; den Hollander, B; van de Ven, P M; Roes, K C B; Geertjens, L; Bruining, H; van Karnebeek, C D M; Jansen, F E; de Wit, M C Y; Ten Hoopen, L W; Rietman, A B; Dierckx, B; Wijburg, F A; Boot, E; Brands, M M G; van Eeghen, A M

Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials" [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233]

对“L-丝氨酸补充剂对GRIN2B功能缺失突变儿童的疗效:单例患者(n-of-1)多重交叉试验的原理和方案”的更正[当代临床试验通讯36(2023)/ DOI:10.1016/j.conctc.2023.101233]

Hollander, Bibiche den; Rothuizen-Lindenschot, Marieke; Geertjens, Lisa; Vaz, Frédéric M; Brands, Marion M; Le, Hoang Lan; van Eeghen, Agnies M; van de Ven, Peter M; Cornel, Martina C; Jacobs, Bart A W; Bruining, Hilgo; van Karnebeek, Clara D

Straightforward model construction and analysis of multicomponent biomolecular systems in equilibrium

简单易懂的多组分生物分子系统平衡模型构建与分析

Geertjens, Nick H J; de Vink, Pim J; Wezeman, Tim; Markvoort, Albert J; Brunsveld, Luc

Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials

L-丝氨酸补充剂对携带GRIN2B功能缺失突变的儿童的疗效:单例患者(n=1)多重交叉试验的原理和方案

den Hollander, Bibiche; Rothuizen-Lindenschot, Marieke; Geertjens, Lisa; Vaz, Frédéric M; Brands, Marion M; Le, Hoang Lan; van Eeghen, Agnies M; van de Ven, Peter M; Cornel, Martina C; Jacobs, Bart A W; Bruining, Hilgo; van Karnebeek, Clara D

Assessing the landscape of STXBP1-related disorders in 534 individuals

对 534 名个体中 STXBP1 相关疾病的概况进行评估

Xian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C; Ellis, Colin A; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; Veiga de Goes, Fernanda; El Achkar, Christelle M; Doering, Jan Henje; Furia, Francesca; García-Cazorla, Ángeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; van Berkel, Annemiek; van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Son Rigby, Charlene; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Møller, Rikke S; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo

Single-case experimental designs for bumetanide across neurodevelopmental disorders: BUDDI protocol

布美他尼治疗神经发育障碍的单例实验设计:BUDDI方案

Geertjens, Lisa; Cristian, Gianina; Haspels, Eva; Ramautar, Jennifer; van der Wilt, Gert Jan; Verhage, Matthijs; Bruining, Hilgo

Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental Disorders

单基因神经发育障碍中从突触到脑电图的兴奋/抑制比率稳态

Geertjens, Lisa; van Voorst, Torben W; Bouman, Arianne; van Boven, Maaike A; Kleefstra, Tjitske; Verhage, Matthijs; Linkenkaer-Hansen, Klaus; Nadif Kasri, Nael; Cornelisse, L Niels; Bruining, Hilgo