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Results 1555 mutation in the mitochondrial DNA was reverified to be one of the major factors which cause maternally inherited nonsyndromic deafness and the cosegregation of 955-960 and 1555 was present in this family.

结果再次证明了1555突变是该家系成员致聋的分子生物学基础之一;并发现该家系27名母系成员的线粒体基因组中除1555突变外,还同时存在有955-960同质型突变,两突变共分离。

DM1 and DM2 gene were amplified by PCR,tested by agarose electrophoresis, then analyzed by genetic analyzer. Results: Myotonia and muscle weakness were the main manifestations associated with heart block (7/8) and cataract (6/7). Electromyologram showed myopathic abnormalities not only in patients but also in other members of the family (5/6). The CTG repeats in DM1 and CCTG repeats in DM2 were all in normal range.

结果:该家系患者除有肌强直、肌萎缩等表现外;心电图检查:心脏传导阻滞(7/8);裂隙灯检查:白内障(6/7);肌电图检查:患者组有强直电位发放(5/5),无临床症状成员也存在肌源性损害(5/6);但该家系无DM1位点n和DM2位点n的重复数增加。

Variable clinical features and incomplete penetrance were found in the affected members of AA family.

研究结果:1.AA家系临床上,AA家系中的患者以夜盲起病,发病年龄较晚,表现为进行性视力下降和周边视野缺损。

The results indicated that the amount of female and male flower strobilus, either within a family or between families, was significantly different, and the amount of female flower strobilus was also different from that of male.

结果表明:家系间与家系内球花量差异显著。马尾松球花花量在不同冠层的分布呈现显著差异。

Of or belonging to a recognized strain established by breeding individuals of unmixed lineage over many generations.

家系从一个祖先传下来的直接世系;家系或家族

In industrial countries such as America and European countries, there are national or local FAP familial registration centers offering screening and follow-up for families of FAP patients, which has significantly lowered the incidence of colorectal carcinoma and apenteric cancers.

在美国及西欧等发达国家都建立了全国或区域性FAP家系登记中心,对家系成员进行筛选和随访,显著降低了这类群体中大肠癌以及肠外恶性肿瘤的发生率。

Bamboo shoot nutrient components of 30 hybrid families of Dendrocalamus latiflorus Munro were tested in order to investigate variation of the descendants.

为研究麻竹杂交子代竹笋营养成分的变异情况,以30个麻竹种内杂交子代家系为材料,对不同家系竹笋营养成分进行了测定分析。

Results 7 pedigrees of microtia were collected from September 2005 to March 2007. There were no abnormal cell genetics analysis and molecular genetics research of the probands.

结果:于2005年9月~2007年3月,收集先天性小耳畸形家系7个;对7个家系先证者的核型分析和vrk1基因突变检测均未发现异常。

Patients were accompanied with TGBM in the familial IgAN, while only 11%(24/219) in the sporadic IgAN.(2) The clinical manifestations of 30 IgAN patients with TGBM were generalized as following: predominant in the affected female, persistent haematuria, the high incidence of familial history with renal disease, the less quantity of urinary protein and benign clinical courses.

1在家族性IgA肾病患者中,TGBM-IgAN患者所占比例为31.8%(21/66),明显高于其在散发性IgA肾病中所占比例11%(24/219);(2)30例TGBM-IgAN患者临床特点:女性为主(20/30),合并肾脏病家族史比例高,均有血尿,尿蛋白量少,预后较好;(3)3个TGBM-IgAN家系中,2个家系与COL4A3/COL4A4的连锁分析提示与COL4A3/COL4A4基因连锁,LOD值为1.53(θ=0)。

To investigate the relationship between the angiotensinconverting enzyme insertion/deletion mutation and the aldosterone synthase (CYP11B2) gene C(-344)T single nucleotide polymorphism in pedigreed primary hypertension and pedigreed nomortension.

目的探讨原发性高血压家系与血压正常家系血管紧张素转换酶基因插入/缺失位点及醛固酮合成酶(CYP11B2)基因C(344)T位点单核苷酸多态性的关系。

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