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遗传疾病

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These populations are of particular research value homozygosity mapping of autosomal recessive mendelian diseases and in the establishment of extended haplotypes for understanding the genetic component of common diseases.

这些特殊的人群对于研究常染色体隐性遗传疾病的同源性作图,并进一步建立单倍型模式来研究常见病的遗传机制都具有极大的价值。而当今的土耳其已经具备一流的高等学府和临床教学机构来充分利用这些资源。

Recent research has shown that mitochondrial dysfunction read.freeduan.com underlies a broad spectrum of disease, from maternally inherited genetic disorders to metabolism defects, aging, stroke, and neurodegenerative diseases such as Parkinson's, Alzheimer's, and Lou Gehrig's disease.

新近的研究已经表现那mitochondrial 机能失调read.freeduan.com为疾病的宽的范围的基础,从母亲继承的遗传疾病到新陈代谢缺陷,变旧,中风和neurodegenerative疾病,早老性痴呆症和卢·格里克的疾病。

So the methods for Mendelian genetic disease study are not suitable for the complex disease very well.

因此,对于复杂疾病的研究来说,孟德尔遗传疾病的研究模式已经远远不能满足需要,对复杂疾病的理解将是21世纪医学科学中一个巨大的挑战。

Genetically, IV is thought to be an autosomal dominant disorder with virtually complete penetrance.

遗传特征上,寻常型鱼鳞病被认为是一种完全外显的常染色体显性遗传疾病

Just as Tay-Sachs has almost been wiped out in the decades since Ashkenazi Jews have tested themselves for the gene, a universal carrier screen, combined with preimplantation genetic diagnosis for carrier couples who want biological children, will eliminate a hundred others.

正如在Ashkenazi犹太人对自己进行基因试验后,Tay-Sachs疾病在数十年间几乎就被全部消灭一样,一种普遍的携带者筛查并结合那些希望获得亲生子女的夫妇们进行植入前遗传诊断将消灭众多其它遗传疾病

Clone the embryonated egg and is used for measuring various hereditary diseases, the fetus of the development among embryo and uterus that clone

将受精卵克隆用于检测各种遗传疾病,克隆的胚胎与子宫中发育的胎儿遗传特征完全相同。

Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration characterized by a wide range of clinical manifestations.

Machado-Joseph 疾病是晚发性的体染色体显性遗传疾病,一种小脑脊髓渐进性神经退化性疾病,此疾病的徵状在临床上变化很多,显现范围很广。

Data from twins, adoptees, and families show that genetic factors play an important role in the etiology of this disease.

大量的双生子、寄养子和家系研究的数据表明在精神分裂症的发病过程中遗传因素有很重要的作用,所以精神分裂症作为一种复杂遗传疾病被纳入遗传学的研究范畴。

Detail Contents: Genetic disorders -- Immune deficiencies -- Breast cancer -- Colon cancer -- Melanoma -- Cystic fibrosis -- Hemophilia -- Liver disease -- Cardiovascular disease -- Muscular dystrophy -- Alzheimer's disease -- Parkinson's disease -- Huntington's disease -- Viruses: the cornerstone of gene therapy -- Viruses are living crystals -- Viral genomes may be RNA or DNA -- Viruses evolved from plasmids -- Viruses know how to infect cells -- The virus as a gene vehicle -- Viruses used in gene therapy -- Ashi DeSilva: a promising start -- Clinical trials defined -- Cells of the immune system -- Adenosine deaminase -- Preliminary research -- Clinical procedure for ADA gene therapy -- The DeSilva clinical trial -- Jesse Gelsinger: down to earth -- Ornithine transcarbamylase -- Preliminary research -- Clinical procedure for OTC gene therapy -- The Gelsinger clinical trial -- The investigation -- Concluding remarks -- Future prospects -- Safer vehicles -- Reducing immune rejection of the vector -- Improved risk assessment -- Redesigning human anatomy and physiology -- Ethics of gene therapy -- The Belmont report -- Clinical trials -- Physiological enhancement -- Cosmetic applications -- Legal issues -- Regulatory agencies -- The Gelsinger legal trial -- International regulation -- Resource center -- Eucaryote cell primer -- Recombinant DNA primer -- The human genome project -- X-linked severe combined immunodeficiency (SCID-X1)-- Alzheimer's disease -- Huntington's disease.

细节内容︰遗传疾病-免疫的缺乏-乳腺癌-结肠癌-黑瘤-囊性纤维变性-血友症-肝疾病-心血管疾病-肌营养不良-早老性痴呆病-帕金森疾病-亨廷顿疾病-病毒︰基础的基因治疗-病毒在活著水晶--病毒的基因可能是RNA或者DNA --病毒从plasmids被逐步形成--病毒知道怎样感染细胞--作为一辆基因车辆的病毒--基因治疗使用的病毒-Ashi DeSilva︰有希望开始-临床试验确定--细胞的这免疫系统-Adenosine deaminase-初步研究-临床程式给埃达基因治疗--这DeSilva临床试验-婕西Gelsinger︰到地球-Ornithine transcarbamylase-初步研究-临床程式给OTC基因治疗-- Gelsinger临床试验-调查-达成评论-前景-更安全的车辆--矢量的降低免疫的拒绝-改进风险估计-重新设计人解剖学和生理学--伦理学的基因治疗-那些贝拉蒙特报告-临床试验-生理提升-美容应用-法律问题-协调机构-- Gelsinger 合法审讯-国际管理-资源中心人物-Eucaryote信元第一-Recombinant DNA 入门--人类基因工程-- X 连结的严重的结合的免疫缺陷(SCID-X1)-早老性痴呆病--亨廷顿的疾病。

One day an infant born with a genetic defect of the bone marrow or blood may be able to have his umbilical cord blood harvested at birth, repaired by genetic engineering and then reinfused, so that he need never suffer the negative effects of his genetic inheritance.

有朝一日,骨髓或血液发生遗传缺失的婴儿,都可用出生时收集的脐带血,以基因工程修复后再输回体内;这样一来,他一辈子都不必为遗传疾病所苦。

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