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6813篇 您的检索式:期刊名="Hum Mol Genet"
    题名 作者 年代 出处 被引量
1Molecular 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
2Small regulatory RNAs in mammals显示文摘Mattick J S Makunin I V 2005Hum Mol Genet2005,14,:1
3Characterization 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
4Zebrafish : bridging the gap between development and disease 显示文摘Dodd A Curtis PM Williams L C 2000Hum Mol Genet2000,9,:1
5Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial population:the stroke prevention in young women study显示文摘 Cole JW O'Connell JR 2006Hum Mol Genet2006,15,:1
6Variants in DNA double-strand break repair genes and breast cancer susceptibility显示文摘Kuschel B Auranen A McBride S 2002Hum Mol Genet2002,11,12:1
7BRCA1 mRNA expression levels as an indicator of chemoresistanee in lung cancer显示文摘Taron M Rosell R 2004Hum Mol Genet2004,13,20:1
8Dopa-responsive dystonia in British patients:new mutations of GTP-cyclohydrolase I gene and evidence for genetic heterogeneity显示文摘Bandmann O Nygaard TG Surtees R 1996Hum Mol Genet1996,5,3:1
9Construction of human Y-chromosomal haplotypes using a new polymorphic Ato G transition显示文摘Seielstad M T Hebert J M Lin A A 1994Hum Mol Genet1994,3,12:1
10Stable micro-dystrophin gene transfer using an integrating adeno-retroviral hybrid vector ameliorates the dystrophic pathology in mdx mouse musle显示文摘Roberts ML Wells DJ Graham IR 2002Hum Mol Genet2002,11,15:1
11Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis显示文摘Karban AS Okazaki T Panhuysen CI 2004Hum Mol Genet2004,13,1:1
12Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis显示文摘Hance N Ekstrand MI Trifunovic A 2005Hum Mol Genet2005,14,13:1
13The hereditary pancreatitis gene maps to long arm of chromosome 7 显示文摘Le Bodic L Bignon JD Raguenes O 1996Hum Mol Genet1996,5,:1
14A functionally dominant mitochondrial DNA mutation显示文摘Sacconi S Salviati L Nishigaki Y 2008Hum Mol Genet2008,17,:1
15Genome search for susceptibility loci of common idiopathic generalised epilepsies显示文摘Sander T Schulz H Saar K 2000Hum Mol Genet2000,9,10:1
16A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome显示文摘Carlson H Ota S Campbell C E 2001Hum Mol Genet2001,10,21:1
17Functional difference of the PDS gene product are associated c phenotypic variation in patients c pendred syndrome & non-syndromic hearing loss (DFNB4) 显示文摘Scott DA Wang R Kreman TM 2000Hum Mol Genet2000,9,11:1
18Structure and function of ASP,the human homolog of the agouti of the mouse agouti gene显示文摘Wilson B D Ollmann M M Kang L 1995Hum Mol Genet1995,,4:1
19Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase:genomic organization,alternative splicing,and structure/function predictions显示文摘Petrukhin K Lutsenko S Chernov I 1994Hum Mol Genet1994,3,9:1
20The mutational spectrum of the sonic hedgehog gene in holorosencephaly: SHH mutations cause a significant proportion of autosomal dominant holorosencephaly显示文摘Nanni L Ming JE Bocian M 1999Hum Mol Genet1999,8,13:1
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