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Human Genetics(442)
ISSN: 0340-6717
年代
61    
Microdeletion 22q11 in complex cardiovascular malformations 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:4  Page:433-442  

Mehraein Yasmin;   Wippermann C.-F;   Michel-Behnke Ina;   Ngo Thi Kim Nhan;   Hillig Ulrike;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:52

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62    
Possible control of dopamine beta-hydroxylase via a codominant mechanism associated with the polymorphic (GT)n repeat at its gene locus in healthy individuals 期刊论文

Human genetics     ISSN:0340-6717  Volume:99  Issue:1  Page:52-55  

Wei J;   Ramchand C N;   Hemmings G P;  

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63    
Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH) 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:3  Page:401-406  

Shin Jong-Chul;   Ross Helen L;   Elias Sherman;   Nguyen Dianne D;   Mitchell-Leef Dorothy;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:45

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64    
The role of oxygen metabolism for the pathological phenotype of Fanconi anemia 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:6  Page:710-719  

Ruppitsch Werner;   Meißlitzer Claudia;   Weirich-Schwaiger Helga;   Klocker Helmut;   Scheidereit Claus;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:49

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65    
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) 期刊论文

Human genetics     ISSN:0340-6717  Volume:99  Issue:4  Page:501-505  

Janssen E. A;   Kemp S;   Hensels G. W;   Sie O. G;   de Die-Smulders C. E;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:49

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66    
Possible control of dopamine beta-hydroxylase via a codominant mechanism associated with the polymorphic (GT)(n) repeat at its gene locus in healthy individuals 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:99  Issue:1  Page:52-55  

Wei J;   Ramchand CN;   Hemmings GP;  

被引频次:57

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67    
Human orosomucoid polymorphism: Molecular basis of the three common ORM1 alleles, ORMI()F1, ORM1()F2, and ORM1()S 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:99  Issue:3  Page:393-398  

Yuasa I;   Umetsu K;   Vogt U;   Nakamura H;   Nanba E;   ...

被引频次:55

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68    
Interstitial telomeric sequences at the junction site of a jumping translocation 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:6  Page:735-737  

Vermeesch Joris Robert;   Petit Paul;   Speleman Frank;   Devriendt Koen;   Fryns Jean-Pierre;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:52

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69    
Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14–q21 by homozygosity mapping 期刊论文

Human Genetics     ISSN:0340-6717  Volume:101  Issue:3  Page:376-382  

Laass Martin Walter;   Hennies Hans Christian;   Preis Sabine;   Stevens Howard P;   Jung Martin;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:44

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70    
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:6  Page:704-709  

Lajic Svetlana;   Levo Antti;   Nikoshkov Andrej;   Lundberg Yvonne;   Partanen Jukka;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:48

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71    
High-throughput analysis of fragile X (CGG)(n) alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis 期刊论文

HUMAN GENETICS     ISSN:0340-6717  Volume:100  Issue:5-6  Page:564-568  

Larsen LA;   Gronskov K;   NorgaardPedersen B;   BrondumNielsen K;   Hasholt L;   ...

被引频次:43

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72    
The involvement of Alu repeats in recombination events at the α-globin gene cluster: characterization of two α°-thalassaemia deletion breakpoints 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:4  Page:528-534  

Harteveld K. L;   Losekoot Monique;   Fodde Riccardo;   Giordano Piero C;   Bernini Luigi F;  

来源数据库:[Web of Science, Science Citation Index Expanded]         被引频次:49

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73    
Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:2  Page:224-229  

Klauck S. M;   Münstermann Ewald;   Bieber-Martig Bettina;   Rühl Dorothea;   Lisch Sonja;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:39

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74    
Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:5  Page:573-576  

Schulze-Bahr E;   Haverkamp W;   Wedekind H;   Rubie C;   Hördt M;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:41

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75    
Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:4  Page:488-497  

Levo Antti;   Partanen Jukka;  

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:45

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76    
Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:2  Page:219-224  

Beck N. E;   Tomlinson I. P. M;   Homfray Tessa;   Frayling I;   Hodgson Shirley V;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:45

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77    
Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25 期刊论文

Human Genetics     ISSN:0340-6717  Volume:101  Issue:3  Page:277-283  

Pellegrino Joan E;   George Roberta A. V;   Biegel Jacquelyn;   Farlow Martin R;   Gardner Kathy;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:29

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78    
Alternative splicing of hMSH2 in normal human tissues 期刊论文

Human Genetics     ISSN:0340-6717  Volume:99  Issue:5  Page:590-595  

Mori Yuriko;   Shiwaku Hiromi;   Fukushige Shinichi;   Wakatsuki Shigeru;   Sato Masami;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, Genetics Abstracts]         被引频次:49

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79    
Deletions in Xq26.3–q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:2  Page:256-262  

Wolff D. J;   Gustashaw Karen M;   Zurcher Vickie;   Ko Lara;   White Wendy;   ...

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:46

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80    
Mistyping frequency of the angiotensin-converting enzyme gene polymorphism and an improved method for its avoidance 期刊论文

Human Genetics     ISSN:0340-6717  Volume:100  Issue:2  Page:163-166  

Odawara M;   Matsunuma Ayako;   Yamashita Kamejiro;  

来源数据库:[Web of Science, Science Citation Index Expanded, MEDLINE - Academic]         被引频次:43

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