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22121篇 您的检索式:期刊名="Hum GENET"
    题名 作者 年代 出处 被引量
1Laryngeal and oropharyngeal cancer, and alcohol dehydrogenase 3 and glutathione S-transferase M1 polymorphisms显示文摘Coutelle C Ward PJ Fleury B Quattrocchi P Chambrin H Iron A 1997Hum Genet1997,99,3:3
2A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV显示文摘Bruno A Martinuzzi Y Tang Y 1999Am J Hum Genet1999,65,3:2
3Molecular genetic investigations of the mechanism of tumourgenesis in von Hippel-Lindau disease:analysis of allele loss in VHL tumors 显示文摘Foster K Crossey PA Richards FM 1994Hum Mol Genet1994,3,:2
4Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women显示文摘Albagha O M E Tasker P N McGuigan F E A 2002Hum Molec Genet2002,11,:2
5Protein PTEN: Form and Function显示文摘Waite KA Eng C 2002Am J Hum Genet2002,70,4:2
6DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels显示文摘HEINZMANN C KIRCHGESSNER T KWITEROVICH P O 1991Hum Genet1991,86,6:2
7DNA typing and genetic mapping with trimetric and tetrametric tandem repeats 显示文摘Edwards A Civitello A Hammond H A 1991Am J Hum Genet1991,49,4:2
8Mapping of a gene for long QT syndrome to chromosome 4q25-27显示文摘Schott JJ Charpentier F Pelter S 1995Am J Hum Genet1995,57,:1
9An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses 显示文摘Legeai- Mallet L Margaritte- Jeannin P Lemdani M 1997Hum Genet1997,99,3:1
10Estimating the power of a proposed linkage study for a complex genetics trait 显示文摘BOEHNK P M 1989Am J Hum Genet1989,44,4:1
11Localization of factors controlling spermatogenesis in the nonfluorescent position of the human Y chromosome long arm显示文摘Tiepolo L Zuffardi O 1976Hum Genet1976,34,2:1
12Efficient direct chromosome analyses and enzyme determination from chorinic villi samples in the first trimester of pregnancy 显示文摘Simoni G Brambiti B Denestno C 1983Hum Genet1983,63,4:1
13A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese显示文摘Yoshimura M Yasue H Nakayama M 1998Hum Genet1998,103,1:1
14Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene 显示文摘Frosk P Weiler T Nylen E 2002Am J Hum Genet2002,70,3:1
15Construction of a genetic linkage map in man using restriction fragment length polymorphisms 显示文摘Botstein D White RL Skolnick M 1980Am J Hum Genet1980,32,3:1
16Small regulatory RNAs in mammals显示文摘Mattick J S Makunin I V 2005Hum Mol Genet2005,14,:1
17From chromosomes to DNA, a revolution in prenatal diagnosis显示文摘Breuning MH 2005Eur J Hum Genet2005,13,5:1
18Localization of factors controlling spermatogenesis in the nonfluorescent portin of the human Y chromosome long arm 显示文摘Tiepolo L Zuffardi O 1976Hum Genet1976,34,2:1
19Characterization of the human ABC superfamily:isolation and mapping of 21 new genes using the expressed sequence tags database 显示文摘Allikmets R Gerrard B Hutchinson A 1996Hum Mol Genet1996,5,10:1
20Methods for high-density admixture mapping of disease genes 显示文摘PATTERSON N HATrANGADI N LANE B 2004Am J of Hum Genet2004,74,:1
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