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MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

机译：MRSD：一种新的定量方法，用于评估RNA-SEQ在孟德利亚疾病中临床调查中的临床调查

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Charlie F. Rowlands; Algy Taylor; Gillian Rice; Nicola Whiffin; Hildegard Nikki Hall; William G. Newman; Graeme C.M. Black; Raymond T. O’Keefe; Simon Hubbard; Andrew G.L. Douglas; Diana Baralle; Tracy A. Briggs; Jamie M. Ellingford;
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年度 2021
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1. Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq [J] . Genetics in medicine . 2020,第7期

机译：在临床上可访问和不可接触的组织中映射RNA剪接变化，以促进使用RNA-SEQ的孟德利亚疾病诊断
2. Assessing causal estimates of the association of obesity-related traits with coronary artery disease using a Mendelian randomization approach [J] . Xue Zhang, Wan-Qiang Lv, Bo Qiu, Scientific reports. . 2018,第1期

机译：利用孟德尔随机化方法评估患有冠状动脉疾病的肥胖相关性状与冠状动脉疾病的因果关系
3. Application of Semi-quantitative M Gene-Based Hydrolysis Probe (TaqMan) Real-Time RT-PCR Assay for the Detection of Peste des petitis ruminants Virus in the Clinical Samples for Investigation into Clinical Prevalence of Disease [J] . Balamurugan V., Sen A., Venkatesan G., Transboundary and emerging diseases . 2010,第6期

机译：基于半定量M基因的水解探针（TaqMan）实时RT-PCR测定法在临床疾病调查中的临床样本中检测小瘟疫反刍动物病毒
4. Preliminary investigation of a Monte Carlo-based system matrix approach for quantitative clinical brain ¹²³I SPECT imaging [C] . Benjamin Auer, Navid Zeraatkar, Soumyanil Banerjee, IEEE Nuclear Science Symposium;Medical Imaging Conference . 2018

机译：基于Monte Carlo的系统矩阵方法对临床^{123 I SPECT定量成像的初步研究}
5. A molecular genetics approach to gene discovery of Mendelian diseases on the island of Newfoundland. [D] . Merner, Nancy D. 2011

机译：纽芬兰岛上的孟德尔病基因发现的分子遗传学方法。
6. Assessing the suitability of summary data for two-sample Mendelian randomization analyses using MR-Egger regression: the role of the ... formula ... statistic [O] . Jack Bowden, Fabiola Del Greco M, Cosetta Minelli, -1

机译：使用MR-Egger回归评估汇总数据用于两样本孟德尔随机分析的适用性：...公式统计的作用
7. MODERATED EPOSTERS1385Longitudinal strain assessment in dilated cardiomyopathy patients using a novel accelerated DENSE sequence1407Simultaneous T1 and T2 cardiac quantification with CABIRIA: initial clinical experience1423Head-to-head comparison of acceleration algorithms in 4-dimensional flow CMR1502Left ventricular function and size evaluated by hybrid cardiac positron emission tomography-magnetic resonance: Intraindividual comparison of left ventricular ejection fraction and ventricular volumes derived by two modalities1510Left Atrium assessed by Cardiovascular Magnetic Resonance at 1.5 and 3 Tesla – age and gender effects1514Comparison of Free Breathing Cardiac MRI Radial technique to the Standard Multi breath-hold cine SSFP CMR technique for the assessment of LV Volumes and Function1536Self-navigated free-breathing isotropic 3D whole heart phase sensitive inversion recovery magnetic resonance without navigator for detection of myocardial infarction1547Assessment of Right Ventricular Strain Using Myocardial Deformation Recovery Semi Automated Technique: Initial Experience and Normal Values1586Tissue tracking myocardial deformation analysis and prediction of left ventricular remodeling in acute myocardial infarction1589Investigating strategies for optimal 31P MRS clinical cardiac at 3T: Initial Results1620Quantitative Criteria for the Diagnosis of the Congenital Absence of Pericardium by Cardiac Magnetic Resonance1632Widespread tissue injury during acute myocardial infarction: evidence from advanced CMR relaxometry1322Computed tomography coronary angiography verSus sTRess cArdiac magneTic rEsonance for the manaGement of sYmptomatic revascularized patients: a cost effectiveness study (STRATEGY study)1339Comparison of low- versus high-dose of gadobutrol for late gadolinium enhancement imaging at 1.5 Tesla: a clinical feasibility study1347Multi-parametric Cardiac Magnetic Resonance for Prediction of Cardiac Complications in Thalassemia Intermedia: a Prospective Multicenter Study1461Prognostic value of Cardiovascular Magnetic Resonance derived indexes of myocardial fibrosis in heart transplant recipients1523The role of CMR in the acute phase of hospitalization: changing paradigms1542Preoperative CMR-based score predict ventricular response after surgical left ventricular reconstruction in ischemic heart failure patients1555Excellent response rate to cardiac resynchronization therapy guided with magnetic resonance imaging1626The ECG as a predictor of arrhythmogenic substrate on Cardiac Magnetic Resonance Imaging in patients undergoing ablation for premature ventricular contractions1649Comparison of T1-mapping at 3.0T CMR and angiographic APPROACH score for area at risk assessment in ST-segment elevation myocardial infarction1340Pathological correlates of left bundle branch disease in patients with non-ischemic cardiomyopathy: a cardiovascular magnetic resonance study1342Myocardial remodelling and fibrosis in nonischaemic dilated cardiomyopathy: insights from cardiovascular magnetic resonance1411The association between fibrosis and contractile dysfunction in hypertrophic cardiomyopathy assessed by cardiovascular magnetic resonance1622Persistent myocardial inflammation due to intramyocardial haemorrhage in reperfused STEMI as a precursor to adverse LV remodelling - insights from multi-parametric mapping1566Semiquantitative analysis of low and high b value DWI for detecting myocardial edema in acute myocarditis1567Value of Cardiac MRI In Detecting Coronary Artery Disease In Newly Diagnosed Systolic Dysfunction1570Usefulness of cardiac magnetic resonance in tuberous sclerosis complex1578Papillary muscles offer further insight into hypertrophied hearts: a cardiovascular magnetic resonance study1627Diagnostic and clinical implications of CMR timing (early versus late) in patients with troponin positive acute coronary syndromes and unobstructed coronary arteries: Table 1. [O] . Upasana Tayal, Alexandros Kallifatidis, P. Garg, 2016

机译：在使用新的扩张型心肌病的患者缓和EPOSTERS1385Longitudinal应变评估加速DENSE sequence1407Simultaneous T1和T2与CABIRIA心脏定量：在4维流动的加速算法初始临床experience1423Head对头比较CMR1502Left心室功能和尺寸由混合心脏正电子发射断层摄影术评价 - 磁性共振：由两个modalities1510Left庭派生左室射血分数和心室体积的个体间的比较，在1.5和3特斯拉评估心血管磁共振 - 免费的年龄和性别effects1514Comparison呼吸心脏MRI径向技术标准的多屏气电影SSFP CMR技术的LV卷和Function1536Self-导航自由呼吸各向同性3D整个心脏相位敏感反转恢复磁共振导航仪没有检测右Ventricu心肌infarction1547Assessment的评估拉尔菌株使用心肌变形恢复半自动技术：初步经验和正常Values1586Tissue跟踪心肌变形分析和预测左室重构急性心肌infarction1589Investigating策略优化31P MRS临床心脏在3T：初始Results1620Quantitative标准的先天缺失的诊断心包心脏磁Resonance1632Widespread组织损伤急性心肌梗死时：证据先进CMR relaxometry1322Computed CT冠状动脉成像与压力心脏磁共振对症的管理吻合血管患者：成本效益研究（战略研究）1339Comparison低与高剂量钆布醇在1.5特斯拉晚钆增强成像的临床可行性，在中间型地贫心脏并发症的预测study1347Multi参数心脏核磁共振的前瞻性德穆尔心血管磁共振的ticenter Study1461Prognostic价值衍生心肌纤维化指标在住院的急性期CMR的心脏移植recipients1523The作用：改变基于CMR-paradigms1542Preoperative比分预测缺血性心脏衰竭patients1555Excellent响应速度外科左心室重建心脏再同步化后心室反应治疗与磁共振imaging1626The ECG导引作为心脏磁共振成像致心律失常性基板的在ST段抬高心肌infarction1340Pathological在风险评估经历在3.0T CMR T1映射的室性早搏contractions1649Comparison和血管造影APPROACH分数区域消融患者的预测左束支传导疾病的患者与非缺血性心肌病相关因素：心血管磁共振study1342Myocardial重塑和纤维化nonischaemic扩张型心肌病：在从在由心血管磁性resonance1622Persistent心肌炎症评估肥厚型心肌病的纤维化和收缩功能障碍之间心血管磁性resonance1411The协会由于心肌内出血景点在再灌注STEMI为先导，以不利的LV重塑 - 从低的多参数mapping1566Semiquantitative分析和高的b值DWI的见解为在心脏MRI检测冠状动脉疾病急性myocarditis1567Value在结节性硬化症complex1578Papillary肌肉初诊收缩期Dysfunction1570Usefulness心脏磁共振检测心肌水肿提供进一步的深入了解肥大心脏：心血管磁共振study1627Diagnostic和CMR定时的临床意义（早期与晚）患者肌钙蛋白阳性的急性冠脉综合征和通畅的冠状动脉：表1。

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

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