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

Arrhythmogenic Cardiomyopathy: Towards Genotype Based Diagnoses and Management

致心律失常性心肌病:迈向基于基因型的诊断和管理

Muller, Steven A; Bertoli, Giorgia; Wang, Jianan; Gasperetti, Alessio; Cox, Moniek G P J; Calkins, Hugh; Riele, Anneline S J M Te; Judge, Daniel P; Delmar, Mario; Hauer, Richard N W; Boink, Gerard J J; Cerrone, Marina; Tintelen, J Peter van; James, Cynthia A

Phenotypic Characterization of Cardiac Involvement in Carriers With Pathogenic TTR Variants Warrants an Evidence-Based Approach

对携带致病性TTR变异体的个体进行心脏受累的表型特征分析,需要采用循证方法。

Muller, Steven A; Kieviet, Leendert C; van Tintelen, J Peter; van der Meer, Manon G; Oerlemans, Marish Ifj

Evaluation of DNA-poli: Study protocol of a randomized controlled trial to assess a digital platform for family cascade genetic testing and predictive genetic counseling

DNA-poli评估:一项随机对照试验的研究方案,旨在评估用于家庭级联基因检测和预测性基因咨询的数字平台

van Lingen, Marlies N; Meulenkamp, Janine V; Siemelink, Marten A; Beinema, Tessa C; Klaassen, Randy; Heylen, Dirk K J; van Tintelen, J Peter; van den Heuvel, Lieke M

Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human

扩张型心肌病新遗传风险因素的鉴定:从犬到人类

Julia E Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller, Robert F Ernst, Dennis Dooijes, Hanneke W M van Deutekom, J Peter van Tintelen, Christian J B Snijders Blok, Marion van Vugt, Jessica van Setten, Folkert W Asselbergs, Aleksandra Domanjko Petrič, Milla Salonen, Sruthi Hundi, Matt

Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population

基于家族健康史预测个人心血管疾病风险:针对一般人群制定专家指导的家族标准

Dijkstra, Tetske; van den Heuvel, Lieke M; van Tintelen, J Peter; van der Werf, Christian; van Langen, Irene M; Christiaans, Imke

Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative

源自携带 PLN-R14del 致病变异的五名无症状个体和一名非携带者亲属的新型人类诱导多能干细胞 (iPSC) 系的生成和表征

Valentina Balducci, Francesco Scardigli, Magdalena Harakalova, J Peter van Tintelen, Pieter A Doevendans, Kevin D Costa, Irene C Turnbull, Joost P G Sluijter, Francesca Stillitano

Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies

缺乏证据表明富含组氨酸的钙结合蛋白中的 p.(Ser96Ala) 多态性在心肌病中起着次要作用

Stephanie M van der Voorn, Esmée van Drie, Virginnio Proost, Kristina Dimitrova, Netherlands Acm/Pln Registry, Robert F Ernst, Cynthia A James, Crystal Tichnell, Brittney Murray, Hugh Calkins, Ardan M Saguner, Firat Duru, Patrick T Ellinor, Connie R Bezzina, Sean J Jurgens, J Peter van Tintelen, Too

KBTBD13 is a novel cardiomyopathy gene

KBTBD13 是一种新型心肌病基因

de Winter, Josine M; Bouman, Karlijn; Strom, Joshua; Methawasin, Mei; Jongbloed, Jan D H; van der Roest, Wilma; Wijngaarden, Jan van; Timmermans, Janneke; Nijveldt, Robin; van den Heuvel, Frederik; Kamsteeg, Erik-Jan; van Engelen, Baziel G; Galli, Ricardo; Bogaards, Sylvia J P; Boon, Reinier A; van der Pijl, Robbert J; Granzier, Henk; Koeleman, Bobby; Amin, Ahmad S; van der Velden, Jolanda; van Tintelen, J Peter; van den Berg, Maarten P; van Spaendonck-Zwarts, Karin Y; Voermans, Nicol C; Ottenheijm, Coen A C

Apophyseal Avulsion of the Rectus Femoris Tendon Origin in Adolescent Soccer Players

青少年足球运动员股直肌腱起点骨骺撕脱

Weel, Hanneke; Joosten, A J Peter; van Bergen, Christiaan J A

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

由新型 FLNA 变异引起的终末骨质发育不良伴色素缺陷和心肌病

Lynne Rumping, Marja W Wessels, Alex V Postma, Joost van Schuppen, Marjon A van Slegtenhorst, Jasper J Saris, J Peter van Tintelen, Stephen P Robertson, Mariëlle Alders, Saskia M Maas, Ronald H Lekanne Deprez