National Science Library, Chinese Academy of Sciences
  登录 机构网站 ENGLISH
您当前的位置是:电子期刊浏览 --> 卷期浏览
中华医学遗传学杂志(7,917)
ISSN: 1003-9406
1    
Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:897  

Wu Qichang;   Sun Li;   Xu Yasong;   Yang Xiaomei;   Sun Shiyu;   ...

文摘信息 问图书馆员

2    
Genetic analysis of a pedigree affected with congenital high myopia caused by a novel splice site variant of COL11A1 gene 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:893  

Yu Xiurong;   Liu Yichu;   Lan Fenghua;   Li Qingqin;   Tang Ying;   ...

文摘信息 问图书馆员

3    
Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:882  

Tan Jianqiang;   Chen Dayu;   Yan Tizhen;   Huang Jun;   Cai Ren;  

文摘信息 问图书馆员

4    
Identification and prenatal diagnosis of a novel NIPBL mutation underlying Cornelia De Lange syndrome 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:910  

Bai Zhouxian;   Kong Xiangdong;  

文摘信息 问图书馆员

5    
Mutation analysis of 77 patients with normal-karyotype myelodysplastic syndrome 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:857  

Qin Wei;   Chen Meiyu;   Cai Xiaohui;   Chao Hongying;   Liu Jie;   ...

文摘信息 问图书馆员

6    
Genetic analysis of one family with congenital limb malformations 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:890  

Cai Fengying;   Ma Jijun;   Pan Rui;   Wang Chao;   Li Weichao;   ...

文摘信息 问图书馆员

7    
Correlation of thickened nuchal fold with fetal chromosomal abnormalities among 919 cases 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:874  

Ma Lishuang;   Luo Yan;   Rong Limin;   Huo Ping;   Gao Jian;   ...

文摘信息 问图书馆员

8    
Clinical and genetic diagnosis of a pedigree affected with autosomal recessive Alport syndrome 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:914  

Ge Lili;   Chen Chongfen;   Liu Lei;   Song Yinsen;  

文摘信息 问图书馆员

9    
CADASIL with clinical manifestations of lumbago, hunchback and Parkinson's syndrome 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:922  

Cao Lei;   Zhang Qishan;   Yuan Yuman;   Liu Lin;   He Lingli;   ...

文摘信息 问图书馆员

10    
Analysis of a pedigree affected with congenital dysfibrinogenemia due to a novel Gly31Glu mutation of FGA gene 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:901  

Wang Xiaoou;   Yang Xiao;   Yang Wei;   Shu Kuangyi;   Li Fanfan;   ...

文摘信息 问图书馆员

11    
Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:886  

Tang Fang;   Li Zhonghui;   Cheng Xinran;   Su Na;   Yan Li;   ...

文摘信息 问图书馆员

12    
Influence of uniparental disomy on the conclusion of paternity testing 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:938  

Kang Bing;   Wu Dong;   Wang Xin;   Wang Hongdan;   He Miao;   ...

文摘信息 问图书馆员

13    
Analysis of inborn error metabolism in 277 children with autism spectrum disorders from Hainan 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:870  

Shi Haijie;   Wang Jie;   Zhao Zhendong;  

文摘信息 问图书馆员

14    
Analysis of CYP17A1 gene variants in 5 patients with 17-hydroxylase deficiency 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:877  

Zheng Ruizhi;   Hu Ziying;   Yang Junpeng;   Zhang Yun;   Wang Yanfang;   ...

文摘信息 问图书馆员

15    
Analysis of STK11 gene variants among 64 patients with Peutz-Jeghers syndrome 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:862  

Li Meng;   Sun Tao;   Jiang Yuliang;   Li Jing;   Ning Shoubin;   ...

文摘信息 问图书馆员

16    
Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:926  

Li Wei;   Li Hailang;  

文摘信息 问图书馆员

17    
Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:918  

Fu Jun;   Ma Mingming;   Pang Mi;   Yang Liang;   Li Gang;   ...

文摘信息 问图书馆员

18    
Analysis of NRXN1 gene deletion in an autistic patient 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:935  

Zhou Shuxiang;   Song Bingwen;   Liu Ni;   Tan Sainan;   Yang Yiqiong;   ...

文摘信息 问图书馆员

19    
Analysis of HEXB gene mutations in an infant with Sandhoff disease 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:930  

Wu Ruohao;   Tang Wenting;   Qiu Kunyin;   Li Yu;   Lu Lirong;   ...

文摘信息 问图书馆员

20    
Prenatal diagnosis for 30 women carrying a FMR1 mutation 期刊论文

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics     ISSN:1003-9406  Volume:36  Issue:9  Page:866  

Huang Wen;   Xue Jin;   Kang Huaixing;   Guan Xinxin;   Teng Yanling;   ...

文摘信息 问图书馆员

< 上一页 1 2 3 4 5 下一页 >
作者信息:×