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

Case Report: MDFIC gene mutation resulting in central conducting lymphatic anomaly facilitates group A Streptococcus sepsis

病例报告:MDFIC基因突变导致中枢淋巴管传导异常,促进A组链球菌败血症的发生

Weidner, Johannes; Fiedler, Kai; Schulze-Becking, Mechthild; Sentner, Christiaan Peter; Korenke, Christoph; Heep, Axel

The Sleep Well Baby project: an automated real-time sleep-wake state prediction algorithm in preterm infants

“安睡宝宝”项目:一种用于早产儿的自动化实时睡眠-觉醒状态预测算法

Sentner, Thom; Wang, Xiaowan; de Groot, Eline R; van Schaijk, Lieke; Tataranno, Maria Luisa; Vijlbrief, Daniel C; Benders, Manon J N L; Bartels, Richard; Dudink, Jeroen

Annotating Transcriptional Effects of Genetic Variants in Disease-Relevant Tissue: Transcriptome-Wide Allelic Imbalance in Osteoarthritic Cartilage

疾病相关组织中遗传变异转录效应的注释:骨关节炎软骨中的全转录组等位基因失衡

den Hollander, Wouter; Pulyakhina, Irina; Boer, Cindy; Bomer, Nils; van der Breggen, Ruud; Arindrarto, Wibowo; Couthino de Almeida, Rodrigo; Lakenberg, Nico; Sentner, Thom; Laros, Jeroen F J; 't Hoen, Peter A C; Slagboom, Eline P E; Nelissen, Rob G H H; van Meurs, Joyce; Ramos, Yolande F M; Meulenbelt, Ingrid

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

III型糖原贮积症:诊断、基因型、治疗、临床过程和预后

Sentner, Christiaan P; Hoogeveen, Irene J; Weinstein, David A; Santer, René; Murphy, Elaine; McKiernan, Patrick J; Steuerwald, Ulrike; Beauchamp, Nicholas J; Taybert, Joanna; Laforêt, Pascal; Petit, François M; Hubert, Aurélie; Labrune, Philippe; Smit, G Peter A; Derks, Terry G J

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

荷兰糖原贮积症III型患者的突变分析:新的基因型-表型关系和AGL基因中的五个新突变

Sentner, Christiaan P; Vos, Yvonne J; Niezen-Koning, Klary N; Mol, Bart; Smit, G Peter A

Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient

糖原贮积症 IIIa 型患者因严重肥厚型心肌病引起的心力衰竭,经低热量、高蛋白饮食调整后逆转。

Sentner, Christiaan P; Caliskan, Kadir; Vletter, Wim B; Smit, G Peter A

Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control

III型糖原贮积症中的高脂血症:年龄和代谢控制的影响

Bernier, A V; Sentner, C P; Correia, C E; Theriaque, D W; Shuster, J J; Smit, G P A; Weinstein, D A