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异常发育

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Hemifacial microsomia is a congenital malformation resulting from the variable dysmorphogenesis of cranio-facial structures either derived from or intimately related to the first and second brachial arches.

半侧颜面发育不全是来源于第一、第二鳃弓或与之有密切联系的颅颌面组织结构在胚胎期出现发育异常,继而形成的受累广泛的先天性畸形。

MRI showed brain atrophy in 11 cases,delayed myelinization in 8 cases,periventricular leukomalacia in 6 cases,abnomal signals of the basal ganglia in 5 cases,brain malaria in 5 cases,cortical infarction in 3 cases and congenital deformation in 4 cases,no abnormal finding in 3 cases.

其中脑萎缩11例,脑白质髓鞘发育延迟8例,脑室周围白质软化灶6例,基底节异常信号5例,脑软化灶5例,皮层梗死病灶3例,先天畸形4例。3例患者MRI检未见明确异常。

Moutains of evidences from laboratary and clinical data show that gene abnormality is the major etiological factor of over 40% patients affected with epilepsy.There were also 6 epilepsy genes been cloned successfully, and mutations of over 1000 genes maybe related to epilepsy. These abnormal genes influence many aspects from molecular level to the neuronal plasticity, such as the development of brain,neuronic degeneration, remodeling of neural circuits, energy metabolism, ion channel and so on.These factors would at last affect the formation of epilepsy focus, propagations of epileptic potentials, vulnerability of epilepsy cells.

大量的实验和临床资料提示基因异常是40%以上癫痫患者的病因,有6种常见全身癫痫的基因已被成功克隆,1000种以上的基因突变可能与癫痫的发作有关,这些表达异常的基因分布在脑发育、神经元变性及神经环路重组、能量代谢、离子通道等多个环节,从分子、细胞、神经元可塑性等多个方面影响着癫痫灶的形成、痫性放电的扩布及癫痫细胞的损伤,构成了癫痫的基因机制。

Results All of the 8 cases were abnormal in ultrasonography. There were more than 2 parts of anomalies in 7 cases (7/8), heart anomalies in 5 cases (5/8), holoprosencephaly in 2 cases (2/8), single umbilical artery in 2 cases (2/8), Dandy-walker syndrome in 1 case (1/8), and other anomalies such as cleft lip and cleft palate, diaphragmatic hernia, omphalocele, esophageal atresia, malformation of radius, club hand, club foot. Four cases were polyhydrmnios and 3 cases were IUGR.

结果 8例18三体综合征胎儿声像图均表现为胎儿结构异常,7例(7/8)超声表现为两个部位以上畸形,5例(5/8)合并心脏畸形,2例(2/8)为全前脑,2例(2/8)为单脐动脉,1例(1/8)为Dandy-walker综合征,其他畸形还有唇腭裂、膈疝、脐膨出、食道闭锁、桡骨发育不良、手畸形、马蹄内翻足、小下颌。4例(4/8)合并羊水过多,3例(3/8)宫内发育迟缓。

The analysis shows that under heat stress, meiocytes degenerate while tetrad cell dispersion fails at microspore formation phase. During pollen maturation phase, loss of orientation of reproductive cells, abnormal vacuolization of tapetal cells, paramorphia or abortion of anther walls and pollens are observed under heat stress.

结果表明,受高温胁迫后,在小孢子形成阶段,水稻花粉母细胞发育异常、四分体无法适时分散;在花粉粒成熟阶段,水稻生殖细胞失去正确的排列方向、绒毡层细胞发生非正常分解、花药壁和花粉粒发生形态异常并出现败育。

The development phase of proembryo was about 30 days, young embryo 40 days and matu...

在形态发育的观察中,发现低温冻害会引起花粉在发育各阶段的形态异常及大量败育。

Background:Developmental dysplasia of hip is a frequent disease of skeletal muscular system in infant.There is about 1% to 10% infants to be prone to developmental dysplasia,dislocation,and semiluxation of hip in the borning.

研究背景及目的:发育性髋关节异常(developmental dysplasia ofhip,DDH)是婴幼儿骨骼系统最常见的疾病之一,约1%~10%的新生儿出生时有髋关节发育不良、脱位及半脱位倾向。

Microspore disfunction was closelycorrelated with occurrence of tapetal abnormality.

萝卜胞质大白菜雄性不育系的花药发育从四分体期开始出现异常,绒毡层细胞发生异常膨大。

Cytological observations of the anther development of pms15-16-2-3 mutant and the wild-type plant showed that the mutant middle layer degenerated later, both the tapetal cell morphology and the tetrads were abnormal, which resulted in few fertile pollen grains formed in the anther.

细胞学观察表明,突变体在花药发育的过程中,中层细胞延迟降解,绒毡层细胞形态分化异常,出现异常的四分体,导致最终只能形成少量的花粉。

The proliferation of the anthers and pollens were distinctly dysplastic. During the prophase of abortive pollens, the tapetums and middle layers of quadrants separated; during metaphase, the microspores were development arrest; during anaphase, the tapetums and microspores gradually disappeared after combination, the anthers finally turned into drying and shriveling to be unable to form pollens.

如主茎开花初期提前1~2d,花萼和雄蕊个数为4~6个,花药室数为2~4个,开花后花药呈白色或淡绿色,表面无皱纹,并延迟脱落;其花药和花粉发育明显异常,败育初期在四分体期绒毡层与中层分离,中期小孢子形成时期发育停滞,后期绒毡层与小孢子粘连后逐渐消失,终期花药干瘪,不能形成花粉。

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