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

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

对来自肌节阴性病例基因组测序数据的51个拟议肥厚型心肌病基因进行分析,其诊断价值微乎其微。

Thomson, Kate L; Ormondroyd, Elizabeth; Harper, Andrew R; Dent, Tim; McGuire, Karen; Baksi, John; Blair, Edward; Brennan, Paul; Buchan, Rachel; Bueser, Teofila; Campbell, Carolyn; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew; Deevi, Sri V V; Goodship, Judith; Hayesmoore, Jesse B G; Henderson, Alex; Lamb, Teresa; Prasad, Sanjay; Rayner-Matthews, Paula; Robert, Leema; Sneddon, Linda; Stark, Hannah; Walsh, Roddy; Ware, James S; Farrall, Martin; Watkins, Hugh C

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

对大量临床诊断为肺动脉高压的患者队列中EIF2AK4突变携带者的表型特征进行分析

Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A; Gibbs, Simon; Girerd, Barbara; Holden, Simon; Humbert, Marc; Kiely, David G; Lawrie, Allan; Machado, Rajiv; MacKenzie Ross, Robert; Moledina, Shahin; Montani, David; Newnham, Michael; Peacock, Andrew; Pepke-Zaba, Joanna; Rayner-Matthews, Paula; Shamardina, Olga; Soubrier, Florent; Southgate, Laura; Suntharalingam, Jay; Toshner, Mark; Trembath, Richard; Vonk Noordegraaf, Anton; Wilkins, Martin R; Wort, Stephen J; Wharton, John; Gräf, Stefan; Morrell, Nicholas W