1.
Screening of the Lipoprotein Lipase Gene for Mutations and the Cloning and Expression of the Human Apolipoprotein CⅡ Gene;
人LPL基因突变筛查及人ApoCⅡ基因的克隆和表达
2.
Clinical Analysis and Gene Mutation Screening of SCN1B and SCN1A in Generalized Epilepsy with Febrile Seizures Plus Families;
GEFS+家系的临床分析及SCN1B、SCN1A基因突变筛查
3.
Screening Mutation of CFTR Gene in Man with Congennital Bilateral Absence of Vas Deferens;
先天性输精管缺如患者CFTR基因突变筛查
4.
Mutation Screening and Whole Spectrum Mutation Map Drawing of GJB2 Gene among Non-syndromic Hearing Impairment Patients;
非综合征型耳聋患者GJB2基因突变筛查和全频谱突变图谱绘制
5.
Screening the mutations of TMIE gene in genetic nonsyndromic Hearing Loss
非综合征性聋分子病因学分析——TMIE基因突变筛查报告
6.
LDL-R Function Analysis and Screening of Virulence Gene Mutaion of One "Familial Hypercholesterolemia" Patient;
一例“家族性高胆固醇血症”患者LDL-R功能及致病基因突变筛查
7.
The Clinical Analysis and Gene Mutation Scree of CLCN1 by PCR-SSCP in Myotonia Congenital Family;
先天性肌强直家系的临床分析及CLCN1的基因突变筛查
8.
Candidate Gene Screening for Autosomal Dominant Auditory Neuropathy in a Chinese Pedigree;
常染色体显性遗传性听神经病家系候选基因突变筛查
9.
Detection of ERG11 Mutations in Fluconazole-resistant Candida Albicans Isolates and Application of DNA Array in Identification;
耐氟康唑白念珠菌ERG11基因突变筛查及鉴定芯片的研制
10.
Screeing of the mtDNA 1555 Mutation Gene Associated with Aminoglycoside-Induced Hearing Loss;
AmAn致聋相关mtDNA1555位突变基因的筛查
11.
Screening of CYP21 gene P459H mutation by PCR-ACRS
PCR-ACRS方法筛查CYP21基因P459H的突变位点
12.
A30P and A53T Mutations of the SNCA Gene in α-synucleinopathies
α-突触核蛋白病SNCA基因A30P和A53T的突变筛查
13.
The Location and Mutation Screen of Pathogenic Gene of Hereditary Lamellar Cataract;
遗传性板层白内障致病基因的定位与突变筛查
14.
Mutation Screening of the KCNQ4 and GJB3 Gene in High Frequencies Hearing Loss Population;
高频听力下降人群中KCNQ4和GJB3基因的突变筛查
15.
Screen of CYP21 Gene P459H Mutation in Adult Han Ethnic Group by PCR-ACRS;
PCR-ACRS法筛查成年汉族人CYP21基因P459H的突变位点
16.
Mutation Analysis of the CYP1B1 Gene in Primary Congenital Glaucoma Patients;
原发性先天性青光眼CYP1B1基因的突变筛查
17.
Molecular Scanning for HNF-1α Mutation in Jiangsu Population of Familial Early-onset Diabetes Pedigrees;
江苏地区早发糖尿病家系HNF-1α基因突变的筛查
18.
Genetic Detection in Two Families with Hereditary Spastic Paraplegias Disease
两个HSP家系的致病基因筛查以及突变鉴定