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- The IT15 gene diagnosis of Huntington disease. Huntington舞蹈症的IT15基因诊断
- The result of a postnatal examination on this fetus coincided with our prenatal gene diagnosis. 胎儿出生后检查结果与与产前基因诊断相吻合。
- Objective To detect dystrophin gene deletion of Duchenne muscular dystrophy (DMD) and make DMD gene diagnosis. 目的探讨Duchenne型肌营养不良症（DMD）患者基因缺失的突变特点并进行基因诊断。
- Detecting the polymorphism of AFM238vc3 in Chinese and applying in gene diagnosis of Wilson disease. 微卫星标记AFM238vc3多态性及Wilson病基因诊断的研究
- Objective To establish a gene diagnosis assay for spinal muscular atrophy(SMA) in children. 目的探讨儿童脊髓性肌萎缩症(SMA)的特异性基因诊断方法。
- Objective To study presymptomatic gene diagnosis in adult polycystic kidney disease (APKD). 目的探讨成人型多囊肾病(APKD)症状前诊断。
- Objective:To explore the gene diagnosis of corneal endotheliitis by polymerase chain reaction (PCR). 目的:探讨聚合酶链反应(PCR)技术对角膜内皮炎的病原学诊断价值。
- Objective To carry out prenatal gene diagnosis in a pedigree of infantile spinal muscular atrophy (SMA). 目的对一婴儿型脊肌萎缩症家系进行产前基因诊断。
- Objective To establish a normative procedure for clinical prenatal gene diagnosis of Duchenne and Becker muscular dystrophy(DMD/BMD). 目的 建立规范的假肥大型肌营养不良症 (DMD/BMD)产前基因诊断程序。
- Objective To study prenatal gene diagnosis in high danger pregnant wo men with Duchenne muscular dystrophy (DMD) families. 目的研究Duchenne肌营养不良症（DMD）家系中高风险孕妇的产前基因诊断。
- After the diagnosis, the baby is originally contracts dwarfism, but this all, if the pregnant woman makes the gene diagnosis is avoidable promptly. 经过诊断，宝宝原来是患有“侏儒症”，而这一切如果孕妇及时做基因诊断是可以避免的。
- Methods To understand the oncogene which is in relation to hepatocarcinoma and to connect the Medical Imaging with Gene diagnosis and therapy. 方法了解与肝癌有关的癌基因,将影像医学与基因诊断和治疗相结合。
- Eight of the 36 relatives at risk got presymptomatic dignosis of FSHD.Conclusions We should perform gene diagnosis as ea... 结论对有家族史的仅有双侧面瘫或一侧面瘫的病人,以及FSHD高危人群应及早进行基因诊断和症状前诊断。
- Conclusion The gene diagnosis of DM was found to be consistent with its clinical symptom，the changes of BAEP，SEP and VEP. 结论DM基因诊断与其临床症状、BAEP、SEP、VEP改变相一致。
- Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia. 目的:研究内蒙古地区经典型苯丙酮尿症(PKU)苯丙氨酸羟化酶(PAH)基因突变的特点和频率,以提高该地区PKU的基因诊断率。
- In 109 individuals of 19 WD families,we founded 8 presymptomatic patients,10 carriers,14 normal people,4 could not determined,the rate of gene diagnosis was 88.87%. 共检出8例症状前患者，10例基因携带者及14例正常人，4例未能确定，基因诊断率达88.;87%25。
- Zeng RP, Hu B, Jin LJ.Genotype analysis and prenatal gene diagnosis of fetal hemoglobin H disease in Guangdong area [ J].Chin J Med Genet, 1996, 13(5): 266-8. [3]曾瑞萍;胡彬;金龙金.;广东地区血红蛋白H病基因型分析及高危胎儿基因诊断[J]
- Objective To identify additional epidermolysis bullosa simplex(EBS) mutations for studying the correlation between genotype and phenotype of EBS, and to provide hasis for genetic counselling, as well as for gene diagnosis and gene therapy. 目的鉴定更多的单纯型大疱性表皮松解症（EBS）突变以研究EBS基因型和表型关系，为EBS的遗传咨询及基因诊断和基因治疗奠定基础。
- The girl born after prenatal gene diagnosis carried a 9.4Kb fragment by PERT 87-15 and her serum CK level reached to 265U/L,otherwise her growth development was normal. Duchenne muscular dystrophy(DMD)or a carrier with DMD symptoms can be ruled out. 产前基因诊断女孩携有 87-15的 9.;4Kb片段;CK2 6 5U /L;是杜氏肌营养不良症(DMD)致病基因携带者;现生长发育正常;排除她不是Duchenne(DMD)型肌营养不良症患者或有症状的DMD的女性携带者。
- Hence, it plays an important role in finding the genes which cause desease or genes, making gene diagnoses and gene treatment for genetic disease and curing it. 从而在对找出致病基因，进行遗传病的基因诊断和基因治疗，彻底根治疾病起重要作用。
