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- The clinical phenotypes are the most important indication to find HNPCC. 临床表型特征仍是发现HNPCC家系的首要指征。
- Congenital fibrosis of extraocular muscle (CFEOM) is a rare autosomal hereditary disorder.The clinical phenotypes are varied. 先天性广泛性眼外肌纤维化(CFEOM)是一种罕见的常染色体遗传病,其临床表现各异,遗传方式不一,至今病因尚不完全清楚。
- Objectives:To report two Chinese pedigrees of steatocystoma multiplex and to explore the relationship between the genotypes and clinical phenotypes. 目的:调查两个中国SM家系,研究患者家系基因突变,探讨基因突变与临床表型的关系。
- Concordance of clinical phenotype may be related to patients' age and antivirus therapy. 另外研究亦发现疾病表型一致率可能与患者年龄及是否进行抗病毒治疗等相关。
- We ealuated the effect of location, coding type, and biophysical function of KCNQ1 mutations on the clinical phenotype of this disorder. 我们研究该疾病的不同临床类型与KCNQ1基因变异的位置、编码类型、生物物理学功能的关系。
- The situation is further complicated by the fact that we are unable to define the limits of the clinical phenotype to which genetic liability can lead. 事实上,我们不能定义遗传因素所致的临床显型的限度,情况会更加复杂。
- We evaluated the effect of location, coding type, and biophysical function of KCNQ1 mutations on the clinical phenotype of this disorder. 我们研究该疾病的不同临床类型与KCNQ1基因变异的位置、编码类型、生物物理学功能的关系。
- In making these judgments, we have primarily been influenced by the strength of the genetic evidence for association to the clinical phenotype. 。在做出这些判断的过程中,我们主要被与临床显型相关的强力的遗传学证据影响。
- Among these 29 cases, the clinical phenotype could be classified into childhood cerebral (22 cases), adolescent cerebral (4 cases), adrenomyeloneuropathic (1 case), Addison's disease (1 case) and asymptomatic or presymptomatic (1 case) types. 2 9例患儿中 ,儿童脑型 2 2例、青春期脑型 4例、肾上腺脊髓神经病型 1例、Addison病型 1例、无症状型或症状前型 1例。
- Curative Effect of TCM-WM Therapy on Wilson Disease with Different Clinical Phenotypes and Polymorphisms of ATP7B Gene 中西医结合治疗肝豆状核变性疗效与临床表型和ATP7B基因突变的关系
- Keywords hepatitis B virus;genotype;clinical phenotypes;restriction fragment length polymorphism;HBeAg; 乙型肝炎病毒;基因型;临床表型;限制性片段长度多态性;
- He watched her suffering with clinical detachment. 他冷漠地看著她遭受的痛苦。
- The relationship between plasma lipoprotein lipase activity and clinical phenotypes among patients with premature coronary heart disease 脂蛋白脂酶活性与早发冠心病临床表型关系的初步探讨
- clinical phenotypes 临床表型
- He seemed to have a rather clinical view of the breakup of his marriage. 他似乎是相当冷静地看待自己的婚姻破裂。
- Diagnosis is based on a clinical triad. 本病诊断取决于临床上的三征。
- Auricular ossification is a rare clinical entity. 临床上,耳壳骨化是罕见的临床症状。
- Clinical impression was cryptogenic cirrhosis. 临床诊断为不明原因的肝硬化。
- His clinical picture was depressive. 他的临床诊状是沮丧抑郁。
- The new drug is undergoing clinical trials. 这种新药正在进行临床试验。