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RESULTS: These familial keloids mainly occurred during adolescence, showing the equal chance of being affected between male and female subjects. The affected person could be heterozygous, and a child of an affected parent had a 50% chance of being affected. Thirteen subjects displayed familiar keloid, 1 suspected keloid, 2 did not present keloid as obligate carriers, and 1 did not present keloid as doubtful carrier. One pedigree displayed keloid in 3 generations, two displayed in 2 generations. The traits of familial keloids were transmitted interruptedly, revealing incomplete penetrance. The clinical phenotypes of familial keloids presented variable expression among the different affected.

结果:这些瘢痕疙瘩家系以青春期发病为主,男女患病的机会均等;杂合体即可发病,双亲之一发病其半数子女可能发病;3个瘢痕疙瘩家系发病13人,可疑发病1人,2个未发病肯定携带者,1个未发病可疑携带者;3代发病家系1个,2代发病家系2个;瘢痕疙瘩性状存在间断传递、外显不完全现象;临床表型存在个体差异。

At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.

理论上,每个患者的兄弟姐妹有25%的几率患病,有50%的几率是没有症状的携带者和25%的几率是不患病的非携带者

At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being unaffected and a carrier, and a 25% chance of being unaffected and not a carrier.

理论上,每个患者的兄弟姐妹有25%的几率患病,有50%几率成为不患病的携带者和另外25%的几率既不患病也不是携带者

Results The positive rate of HBV DNA was the highest in patients with chronic hepatitis or symptomless HBV carriers,it was significant higher than that in patients with cirrhosis and acute hepatitis;the highest rate of HBV DNA was present in patients wit...

结果 各病型 HBV DNA阳性率以慢性肝炎和无症状携带者最高,与急性肝炎肝硬变组比较差异显著;HBe Ag阳性病例中 HBV DNA阳性率以无症状携带者、急性肝炎、慢性肝炎组最高,与慢性肝炎、肝硬变组比较差异显著;在抗-HBe阳性病例中,HBV DNA阳性率以慢性肝炎、肝硬变组为高,与急肝、无症状携带者比较差异非常显著。

Six of 8 SBMA patients showed myogenic changes together with the neurogenic atrophy in their muscle biopsy.

研究8例SBMA患者和3例女性携带者的骨骼肌活检组织,结果6例SBMA患者和全部女性携带者显示了肌源性的变化并伴有神经元性的萎缩。

In diabetic group and diabetic nephropathy group, Ala carriers compared to noncarrier all kinds of biochemical indicators were not different,adjusted with age, sex and smoke, Prol2Al did not have association with diabete and diabetic nephropathy .

糖尿病组及糖尿病肾病组Prol2Ala基因多态性Ala携带者与非携带者相比,各项生化指标未见明显差异,对年龄、性别、吸烟等混杂因素进行校正,Prol2Ala多念性与糖尿病及糖尿病肾病均无相关性。

To study these mechanisms, non-manifesting DYT1 mutation carriers (nmDYT1) and presymptomatic HD gene carriers, as well as age-matched controls were scanned with FDG PET in the resting state, and 15O-labeled water PET while performing a motor sequence learning task and motor execution task.

为 了研究这种机制,我们利用氟去氧葡萄糖 PET 扫描技术和 15O 标记水 PET 技术,对非显性 DYT1 突变携带者( nmDYT1)、未发生临床症状的 HD 基因携带者以及同龄对照在静息期和执行运动顺序学习任务以及运动原执行任务期间进行检测。

Diagnosis/testing. A diagnosis of ocular albinism is probable in the presence of congenital nystagmus, iris translucency, and significant hypopigmentation of the ocular fundus periphery in males with normal skin pigmentation and foveal hypoplasia, reduced visual acuity, and aberrant optic pathway projection, as demonstrated by crossed asymmetry of the cortical responses on visual evoked potential. X-linked inheritance is documented by either a family history consistent with X-linked inheritance or the presence of typical carrier signs (irregular retinal pigmentation and partial iris transillumination) in an obligate carrier female.

诊断/检测。对于皮肤色素沉着正常、中央凹发育不全、视敏度降低以及视径投射异常(VEP,表现为视觉诱发电位中皮层反应的交叉不对称)的男性患者,当存在先天眼球震颤、虹膜半透明以及显著的眼基底层边缘色素减退的症状时,可被疑似诊断为眼白化病。X连锁性遗传则以存在与X连锁遗传一致的家族病史,或在一个应当为携带者的女性中存在典型的携带者迹象(视网膜色素沉着不规则以及部分虹膜透射)而被确认。

With this in mind, the researchers then reanalysed data from knowingly HIV-positive heterosexual subjects in Uganda and Zambia who had HIV-negative sexual partners. Those with a viral load of one million particles per millilitre were more than ten times more likely to accidentally infect their partners each year than those with a load of one thousand.But when the researchers calculated the transmission potential over the entire predicted asymptomatic period, those with viral loads between ten thousand and a hundred thousand copies per millilitre of blood were the most likely to infect their partners. HIV-positive subjects with viral counts of 50,000 infected roughly twice as many people as those with counts of one million.

伦敦帝国学院流行病学家Christophe Fraser和他的同事对收集于1982年到1993年之间的100多例HIV阳性的男性同性恋者的数据进行分析,并结合分析来自乌干达和赞比亚的已知有HIV阴性性伴侣的HIV阳性异性恋受调查者的资料,他们发现中度病毒负荷而无症状的HIV携带者更易播散HIV,这是因为中度病毒负荷的HIV携带者的无症状期较长,而那些高病毒负荷而无症状的HIV携带者虽然传染性稍强,但其传染的持续时间却很短,并且在未经治疗的HIV携带者个体中中度病毒负荷是最常见的人群。

Begg argues that all risk factors for breast cancer are overrepresented in incident cases of breast cancer, so that a sample of women who have been diagnosed with breast cancer and who are identified as mutation carriers are more likely to have other breast cancer risk factors than similar mutation carriers who are disease-free.

Dr。 Begg认为,所有的乳腺癌危险因子在乳腺癌病例中都被高估,所以一些已经被诊断为乳腺癌,且确认是某种基因突变的携带者妇女,比起具有相似的遗传突变的健康携带者,更可能是其他乳腺癌的危险因子导致疾病发生。

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