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
Human Genetics(441)
ISSN: 0340-6717
年代
1    
Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcoho... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:101  Issue:2  Page:243-246  

Gelernter J;   Kranzler Henry;   Cubells Joseph F;  

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:332

文摘信息 获取全文 问图书馆员

2    
Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:6  Page:755-760  

Delhanty J. D. A;   Harper Joyce C;   Ao Asangla;   Handyside Alan H;   Winston Robert M. L;  

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:284

文摘信息 获取全文 问图书馆员

3    
Mutation detection in FGFR2 craniosynostosis syndromes 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:2  Page:251-255  

Hollway G. E;   Suthers Graeme K;   Haan Eric A;   Thompson Elizabeth;   David David J;   ...

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:42

文摘信息 获取全文 问图书馆员

4    
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:3  Page:365-377  

Dörk T;   Dworniczak Bernd;   Aulehla-Scholz Christa;   Wieczorek Dagmar;   Böhm Ingolf;   ...

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:179

文摘信息 获取全文 问图书馆员

5    
Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:99  Issue:5  Page:663-668  

Koper JW;   Stolk RP;   deLange P;   Huizenga NATM;   Molijn GJ;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:181

文摘信息 获取全文 问图书馆员

6    
Human centromeric DNAs 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:3  Page:291-304  

Lee C;   Wevrick R;   Fisher R. B;   Ferguson-Smith M. A;   Lin C. C;  

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:174

文摘信息 获取全文 问图书馆员

7    
An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants 期刊论文

Human Genetics     ISSN:0340-6717  Volume:101  Issue:2  Page:121-125  

Ogburn Charles E;   Oshima Junko;   Poot Martin;   Chen R;   Hunt Kristin E;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:146

文摘信息 获取全文 问图书馆员

8    
Incidence of the mucopolysaccharidoses in Northern Ireland 期刊论文

Human Genetics     ISSN:0340-6717  Volume:101  Issue:3  Page:355-358  

Nelson J;  

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:152

文摘信息 获取全文 问图书馆员

9    
Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities 期刊论文

Human Genetics     ISSN:0340-6717  Volume:101  Issue:3  Page:255-262  

Schröck E;   Veldman T;   Padilla-Nash Hesed;   Ning Y;   Spurbeck Jack;   ...

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:122

文摘信息 获取全文 问图书馆员

10    
Microsatellite polymorphism in the human heme oxygenase-1 gene promoter and its application in association studies with Alzheimer and Parkinson disease 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:1  Page:145-147  

Kimpara Teiko;   Takeda A;   Watanabe Koichi;   Itoyama Yasuto;   Ikawa Shuntaro;   ...

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:140

文摘信息 获取全文 问图书馆员

11    
Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:1  Page:1-21  

Guttenbach Martina;   Engel Wolfgang;   Schmid M;  

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:120

文摘信息 获取全文 问图书馆员

12    
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:3  Page:415-419  

Eggermann T;   Wollmann Hartmut A;   Kuner Ruprecht;   Eggermann Katja;   Enders Herbert;   ...

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:113

文摘信息 获取全文 问图书馆员

13    
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:5  Page:544-547  

Jouanolle A. M;   Fergelot Patricia;   Gandon Gwénola;   Yaouanq Jacqueline;   Gall Jean Yves Le;   ...

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:114

文摘信息 获取全文 问图书馆员

14    
Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:3  Page:329-333  

Amaravadi Ravi;   Glerum D. Moira;   Tzagoloff A;  

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:125

文摘信息 获取全文 问图书馆员

15    
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:6  Page:746-754  

Bort Sylvia;   Nelis E;   Timmerman Vincent;   Sevilla Teresa;   Cruz-Martínez Antonio;   ...

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:105

文摘信息 获取全文 问图书馆员

16    
Laryngeal and oropharyngeal cancer, and alcohol dehydrogenase 3 and glutathione S-transferase M1 polymorphisms 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:3  Page:319-325  

Coutelle C;   Ward P. J;   Fleury B;   Quattrocchi P;   Chambrin H;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:110

文摘信息 获取全文 问图书馆员

17    
nm23-H4, a new member of the family of human nm23/nucleoside diphosphate kinase genes localised on chromosome 16p13 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:4  Page:550-557  

Milon Laurence;   Rousseau-Merck Marie-Françoise;   Munier Annie;   Erent Muriel;   Lascu Ioan;   ...

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:111

文摘信息 获取全文 问图书馆员

18    
Microsatellite variation and the differentiation of modern humans 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:99  Issue:1  Page:1-7  

PerezLezaun A;   Calafell F;   Mateu E;   Comas D;   RuizPacheco R;   ...

被引频次:113

文摘信息 问图书馆员

19    
Differential stability of the (GAA)(n) tract in the Friedreich ataxia (STM7) gene 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:99  Issue:6  Page:834-836  

Epplen C;   Epplen JT;   Frank G;   Miterski B;   Santos EJM;   ...

被引频次:101

文摘信息 问图书馆员

20    
Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex transloc... 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:6  Page:806-815  

Madan K;   Nieuwint A. W. M;   van Bever Y;  

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:106

文摘信息 获取全文 问图书馆员

< 上一页 1 2 3 4 5 下一页 >
作者信息:×