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

Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial

Inclisiran治疗基因确诊为纯合子家族性高胆固醇血症青少年患者的疗效和安全性:ORION-13随机试验双盲、安慰剂对照部分的结果

Wiegman, Albert; Peterson, Amy L; Hegele, Robert A; Bruckert, Eric; Schweizer, Anja; Lesogor, Anastasia; Wang, Yibo; Defesche, Joep

Exaggerated IFN-I Response in Long COVID PBMCs Following Exposure to Viral Mimics

长期新冠患者外周血单核细胞暴露于病毒模拟物后出现过度的I型干扰素反应

Humer, Bart; Berentschot, Julia C; van Helden-Meeuwsen, Cornelia G; Bek, L Martine; de Bie, Maaike; Defesche, Tobias M; Boly, Chantal A; Drost, Manon; Hellemons, Merel E; Dik, Willem A; Versnel, Marjan A

The Effect of Bimanual Intensive Functional Training on Somatosensory Hand Function in Children with Unilateral Spastic Cerebral Palsy: An Observational Study

双侧强化功能训练对单侧痉挛型脑瘫患儿体感手功能的影响:一项观察性研究

Steinbusch, Catherine V M; Defesche, Anke; van der Leij, Bertie; Rameckers, Eugene A A; Knijnenburg, Annemarie C S; Vermeulen, Jeroen R J; Janssen-Potten, Yvonne J M

Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene

建立家族性β脂蛋白异常血症与APOE基因遗传变异之间的关系

Heidemann, Britt E; Koopal, Charlotte; Baass, Alexis; Defesche, Joep C; Zuurbier, Linda; Mulder, Monique T; Roeters van Lennep, Jeanine E; Riksen, Niels P; Boot, Christopher; Marais, A David; Visseren, Frank L J

Differential DNA methylation in familial hypercholesterolemia

家族性高胆固醇血症中的差异性DNA甲基化

Reeskamp, Laurens F; Venema, Andrea; Pereira, Joao P Belo; Levin, Evgeni; Nieuwdorp, Max; Groen, Albert K; Defesche, Joep C; Grefhorst, Aldo; Henneman, Peter; Hovingh, G Kees

ClinVar database of global familial hypercholesterolemia-associated DNA variants

全球家族性高胆固醇血症相关DNA变异的ClinVar数据库

Iacocca, Michael A; Chora, Joana R; Carrié, Alain; Freiberger, Tomáš; Leigh, Sarah E; Defesche, Joep C; Kurtz, C Lisa; DiStefano, Marina T; Santos, Raul D; Humphries, Steve E; Mata, Pedro; Jannes, Cinthia E; Hooper, Amanda J; Wilemon, Katherine A; Benlian, Pascale; O'Connor, Robert; Garcia, John; Wand, Hannah; Tichy, Lukáš; Sijbrands, Eric J; Hegele, Robert A; Bourbon, Mafalda; Knowles, Joshua W

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

儿童和青少年家族性高胆固醇血症:通过优化检测和治疗延长数十年寿命

Wiegman, Albert; Gidding, Samuel S; Watts, Gerald F; Chapman, M John; Ginsberg, Henry N; Cuchel, Marina; Ose, Leiv; Averna, Maurizio; Boileau, Catherine; Borén, Jan; Bruckert, Eric; Catapano, Alberico L; Defesche, Joep C; Descamps, Olivier S; Hegele, Robert A; Hovingh, G Kees; Humphries, Steve E; Kovanen, Petri T; Kuivenhoven, Jan Albert; Masana, Luis; Nordestgaard, Børge G; Pajukanta, Päivi; Parhofer, Klaus G; Raal, Frederick J; Ray, Kausik K; Santos, Raul D; Stalenhoef, Anton F H; Steinhagen-Thiessen, Elisabeth; Stroes, Erik S; Taskinen, Marja-Riitta; Tybjærg-Hansen, Anne; Wiklund, Olov

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries

改进低密度脂蛋白胆固醇遗传风险评分的变异选择方法,用于诊断多基因型临床家族性高胆固醇血症,并在来自6个国家的样本中进行验证

Futema, Marta; Shah, Sonia; Cooper, Jackie A; Li, KaWah; Whittall, Ros A; Sharifi, Mahtab; Goldberg, Olivia; Drogari, Euridiki; Mollaki, Vasiliki; Wiegman, Albert; Defesche, Joep; D'Agostino, Maria N; D'Angelo, Antonietta; Rubba, Paolo; Fortunato, Giuliana; Waluś-Miarka, Małgorzata; Hegele, Robert A; Aderayo Bamimore, Mary; Durst, Ronen; Leitersdorf, Eran; Mulder, Monique T; Roeters van Lennep, Jeanine E; Sijbrands, Eric J G; Whittaker, John C; Talmud, Philippa J; Humphries, Steve E

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

识别家族性高胆固醇血症冠心病遗传风险变异:一种极端的遗传学方法

Versmissen, Jorie; Oosterveer, Daniëlla M; Yazdanpanah, Mojgan; Dehghan, Abbas; Hólm, Hilma; Erdman, Jeanette; Aulchenko, Yurii S; Thorleifsson, Gudmar; Schunkert, Heribert; Huijgen, Roeland; Vongpromek, Ranitha; Uitterlinden, André G; Defesche, Joep C; van Duijn, Cornelia M; Mulder, Monique; Dadd, Tony; Karlsson, Hróbjartur D; Ordovas, Jose; Kindt, Iris; Jarman, Amelia; Hofman, Albert; van Vark-van der Zee, Leonie; Blommesteijn-Touw, Adriana C; Kwekkeboom, Jaap; Liem, Anho H; van der Ouderaa, Frans J; Calandra, Sebastiano; Bertolini, Stefano; Averna, Maurizio; Langslet, Gisle; Ose, Leiv; Ros, Emilio; Almagro, Fátima; de Leeuw, Peter W; Civeira, Fernando; Masana, Luis; Pintó, Xavier; Simoons, Maarten L; Schinkel, Arend F L; Green, Martin R; Zwinderman, Aeilko H; Johnson, Keith J; Schaefer, Arne; Neil, Andrew; Witteman, Jacqueline C M; Humphries, Steve E; Kastelein, John J P; Sijbrands, Eric J G

Effects of botulinum toxin A and/or bimanual task-oriented therapy on upper extremity activities in unilateral Cerebral Palsy: a clinical trial

肉毒杆菌毒素A和/或双手任务导向疗法对单侧脑瘫患者上肢活动的影响:一项临床试验

Speth, Lucianne; Janssen-Potten, Yvonne; Rameckers, Eugene; Defesche, Anke; Winkens, Bjorn; Becher, Jules; Smeets, Rob; Vles, Hans