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INTRODUCTION: Elevated concentrations of isovaleric,methylmalonic, and propionic acid are associated withimpaired consciousness in genetic diseases.

简介:在一些遗传性疾病中,异戊酸、甲基丙二酸及丙酸浓度的升高与意识损伤有关。

Pharmacodynamic study show that this new drug can prevent from the increasing of the genetic hypertension and the development of the stroke, significantly dilate the microartery on leptomeninx, increase the number of the opening capillaries, improve the microcirculation of the mesentery.

药效学试验结果表明本品能显著防治遗传性高血压卒中型的血压增高及卒中的发生;还可显著扩张软脑膜上微动脉管径,增加毛细血管开放条数,改善肠系膜微循环;改善血液流变学。

The risk factors of breast carcinoma includes family history (The likelihood of developing breast cancer for a patient, if one of whose mother or sisters does, will increase by 1.5 to 3 times.), age, BMI, hereditary factors (The risk of developing breast cancer for a female whose BRCA1 gene has been mutated reaches 50-85% in her life.), female, contact history of the endogenous and exogenous estrogen, past history of chest being exposed to the radiation, dietary pattern, benign mastopathy and environmental factors.

发生乳腺肿瘤的危险因素包括:家族史(假如患者母亲或姐妹当中有一人发生乳腺癌,该患者乳腺癌发生的可能性增加1.5至3倍),年龄,肥胖,遗传性素因(BRCA1基因突变的女性一生中发生乳腺癌的可能性为50-85%),女性性别,内源性和外源性雌性激素接触,既往有过胸部放射性暴露史,膳食结构,良性乳腺疾病和环境因素。

Objective To explore audiological features of matrilineal non-syndromic deafness and its molecular mechanism.

目的 探讨母系遗传性非综合征性耳聋的听力学特征及分子遗传学机制。

Herein,we briefly describe the latest advances of the research on the genetic diagnosis of monogenetic inherited ...

本文将概述单基因遗传性内分泌代谢病的基因诊断及其临床应用方面的最新研究进展。

Autosomal dominant polycystic kidney disease , one of the most common monogenetic human disorders, is characterized by the formation and progressive expansion of multiple cystic lesions, which compromise the function of normal renal parenchyma and lead to nearly 10% of cases of end-stage renal failure in adults.

中文题名角质细胞生长因子在ADPKD肾囊肿组织中的表达及对囊肿衬里上皮细胞增殖作用的研究副题名外文题名 Expression of keratinocyte growth factor in ADPKD cystic tissue and effect of proliferation on ADPKD cyst-lining epitheliar cells 论文作者刘沙勤导师梅长林朱有华教授学科专业内科学研究领域\研究方向学位级别博士学位授予单位第二军医大学学位授予日期2002 论文页码总数104页关键词角质细胞生长因子肾病囊肿衬里上皮细胞株肾囊肿馆藏号BSLW /2003 /R692 /1 ADPKD是人类为之付出昂贵代价的一种全身性遗传性疾病,是引起慢性肾功能衰竭的第四位病因,在临床上以肾脏满布大小不一并不断增大的囊性液泡、最终引起肾功能进行性损害为特征性的改变。

The congenital myasthenic syndromes are a heterogeneous group of hereditary disorders affecting neuromuscular transmission and most present at birth or soon after.

先天性肌无力综合症不同于遗传性肌病,其影响神经肌肉传递并且常常在出生后或出生后不久发病。

The abnormality of Cx36 is associated with juvenile myoclonic epilepsy and inherited abnormality in the response to sensory stimulation. It also affects the process of learning and memory.

它的异常与青少年癫痫、遗传性感觉反应刺激异常有关,对学习记忆过程也有影响。

Congenital nephrogenic diabetes insipidus is a rare inherited disease in which infants suffer serious dehydration as the result of an inability of their kidneys to produce a concentrated urine.

先天性肾源性尿崩症是一种罕见的遗传性疾病,由于患病的婴儿的肾脏缺乏产生终尿的能力,他们会遭受严重的脱水。

Musclenet - provides information on clinical, diagnostic criteria of inherited neuromuscular disorders as well as on current research.

提供遗传性神经肌肉紊乱的临床诊断标准的有关信息和目前正在研究的课题的有关信息。

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However, as the name(read-only memory)implies, CD disks cannot be written onorchanged in any way.

然而,正如其名字所指出的那样,CD盘不能写,也不能用任何方式改变其内容。

Galvanizes steel pallet is mainly export which suits standard packing of European Union, the North America. galvanizes steel pallet is suitable to heavy rack. Pallet surface can design plate type, corrugated and the gap form, satisfies the different requirements.

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A single payment file can be uploaded from an ERP system to effect all pan-China RMB payments and overseas payments in all currencies.

付款指令文件可从您的 ERP 系统上传到我们的电子银行系统来只是国内及对海外各种币种付款。