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期刊论文 15 相关解读 0
Beyond Wall Thickness: Clinical Predictors of Genotype Positivity in Hypertrophic Cardiomyopathy 超越壁厚：肥厚型心肌病基因阳性临床预测因素 Angelini, Filippo; Dusi, Veronica; Feneziani, Amedeo Maria; Manai, Rossella; Bianco, Matteo; Lonni, Enrica; Brach Del Prever, Giulia Margherita; Bocchino, Pier Paolo; Giannino, Giuseppe; Melis, Daniele; Gobello, Giulia; Ravera, Francesco; Laiso, Lucia Elena; Juvenal, Federico; Gallone, Guglielmo; Pidello, Stefano; Mabritto, Barbara; Giachino, Daniela; Musumeci, Giuseppe; Chinaglia, Alessandra; Marra, Walter Grosso; Deaglio, Silvia; De Ferrari, Gaetano Maria; Raineri, Claudia 分享 收藏
Whole-Genome Sequencing in Premature Coronary Artery Disease in South Asians: A Pilot Case-Control Study 南亚人群早发冠状动脉疾病的全基因组测序：一项试点病例对照研究 Ch, Iftikhar Ali; Chaudhry, Azhar; Jalil, Fazal; Ali, Yasir; Iqbal, Waseem; Javed, Yusra; Khalid, Salman; Razzaq, Azeen; Azhar, Muhammad; Nadeem, Amna; Afzal, Tayyab; Tahirkheli, Naeem; Kalra, Ankur; Nasir, Khurram 分享 收藏
Report on the Post-Translational Modifications (PTMs) Prediction in Hypertrophic Cardiomyopathy-Associated Proteins MYH7, MYBPC3, TNNT2, and TNNI3, and Five Unknown PTMs in MYH7 (K129, K1451) and MYBPC3 (K14, R44, T705) 关于肥厚型心肌病相关蛋白MYH7、MYBPC3、TNNT2和TNNI3中翻译后修饰（PTMs）的预测报告，以及MYH7（K129、K1451）和MYBPC3（K14、R44、T705）中五种未知翻译后修饰的报告 Trajkovska, Natasha; Jovova, Lenche; Stojanov, Done 分享 收藏
Non-Lysosomal Glycogen Storage Cardiomyopathy with Hypertrophic Phenotype Due to PRKAG2 c.905G>A (p.Arg302Gln): Case Report and Narrative Review 非溶酶体糖原贮积症性心肌病伴肥厚型表型：PRKAG2 c.905G>A (p.Arg302Gln)病例报告及叙事综述 Crea, Pasquale; Moncada, Alice; Catanzariti, Francesco; Agnelli, Graziella; Navarra, Michela; Rubino, Claudia; Scime, Irene; Teresi, Lucio; Cusma Piccione, Maurizio; Colarusso, Luigi; Licordari, Roberto; Dattilo, Giuseppe; Di Bella, Gianluca 分享 收藏
The Hidden Face of Danon Disease: Unique Challenges for Female Patients Danon病的隐匿面：女性患者的独特挑战 Torlai Triglia, Laura; Barocelli, Federico; Ambrosini, Enrico; Bettella, Alberto; Gurgoglione, Filippo Luca; Bianconcini, Michele; Guidorossi, Angela; Russo, Francesca; Percesepe, Antonio; Niccoli, Giampaolo 分享 收藏
Sinus Bradycardia and Long QT Syndrome: Double Heterozygosity for Variants in KCNH2 and HCN4 窦性心动过缓与长QT综合征：KCNH2和HCN4基因变异的双杂合子状态 Copier, Jael S.; Tuijnenburg, Fenna; Andrzejczyk, Karolina; Postma, Alex V.; van der Crabben, Saskia N.; Najih, Oussama; Pham, Caroline; Beekman, Leander; Verkerk, Arie O.; Amin, Ahmad S.; Lodder, Elisabeth M. 分享 收藏
Integrating Genetic, Clinical, and Histopathological Data for Definitive Diagnosis of PRKAG2-Related Disease Caiazza, Martina; Monda, Emanuele; Loffredo, Francesco; Bussani, Rossana; Fico, Vera; Bobbio, Emanuele; Cirillo, Chiara; Murredda, Anna; Viscovo, Immacolata; Scatteia, Alessandra; Dellegrottaglie, Santo; Colonna, Diego; Sarubbi, Berardo; Russo, Maria Giovanna; Golino, Paolo; Sinagra, Gianfranco; Limongelli, Giuseppe 分享 收藏
Genetic Profile of Pediatric-Onset Cardiac Channelopathies 儿童发病的心脏离子通道病遗传特征 Giovani, Sara; Ballerini, Adelaide; Gozzini, Alessia; Di Lorenzo, Michele; Mei, Davide; Passantino, Silvia; Zampieri, Mattia; Tomberli, Alessia; Marchi, Alberto; Calabri, Giovanni Battista; Spaziani, Gaia; Porcedda, Giulio; Bennati, Elena; Favilli, Silvia; Olivotto, Iacopo; Girolami, Francesca 分享 收藏
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