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25篇 您的检索式:作者名="Heiss NS"
    题名 作者 年代 出处 被引量
1X-llinked dyskera-tosis congenital is caused by mutations in a highly con-served gene with putative nucleolar nucleolar functions显示文摘Heiss NS Knight SW Vulliamy TJ 0,,01:1
2Genomic structure of a novel LIM domain gene( ZNF185 ) in Xq28 and comparisons with the orthologous murine transcript 显示文摘Heiss NS Gloeckner G Bacher D 1997Geuomics1997,43,3:1
3Xlinked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions显示文摘Heiss NS Knight SW Vulliamy TJ 1998Nat Genet1998,19,1:1
4X-linked dyskeratosis congenital is caused by mutations in a highly conserved gene with putative nucleolar functions显示文摘 Knight SW Vulliamy TJ 1998Nat Genet1998,19,1:1
5Unexplained aplastic anaemia,immunodeficiency,and cerebellar hypoplasia (HoyeraalHreidarsson syndrome) due to mutations in the dyskeratosis congenita gene,DKC1显示文摘Knight SW Heiss NS Vulliamy TJ 1999Br J Haematol1999,107,2:1
6Dyskeratosis congenita caused by a 3 ' deletion:germline and somatic mosaicism in a female carrier显示文摘Vulliamy TJ Knight SW Heiss NS 1999Blood1999,94,4:1
7X-linked dyskera- tosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions 显示文摘Heiss NS Knight SW Vulliamy TJ 1998Nat Genet1998,19,1:1
8X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions显示文摘Heiss NS Knight SW Vulliamy TJ 1998Nat Genet1998,19,1:1
9X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene显示文摘Knight SW Heiss NS Vulliamy TJ 1999Am J Hum Genet1999,65,1:1
10Amplification and expression of the TGF-alpha,EGF receptor and c-myc genes in four human oesophageal squamous cell carcinoma lines显示文摘Jones GJ Heiss NS Veale RB 1993Biosci Rep1993,13,5:1
11X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions显示文摘Heiss NS Knight SW Vulliamy Tj 1998Nat Genet1998,19,1:1
12X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions显示文摘Heiss NS Knight SW Vulliamy TJ et ai 1998Nat Genet1998,19,1:1
13X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene显示文摘Knight SW Heiss NS Vulliamy TJ 1999Am J Hum Genet1999,65,1:1
14X-linked dyskeratosis congeni- ta is caused by mutations in a highly conserved gene with putative nucle- olarfunctions显示文摘Heiss NS Knight SW Vulliamy TJ 1998Nat Genet1998,19,1:1
15Xqinked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene显示文摘Knight SW Heiss NS Vulliamy TJ 1999Am J Hum Genet1999,65,1:1
16X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions显示文摘Heiss NS Knight SW Vulliamy TJ 1998Nat Genet1998,19,1:1
17Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity显示文摘Salowsky R Heiss NS Benner A 2002Gene2002,2,12:1
18Unexplained aplastic anaemia,immunodeficiency, and cerebellar hypoplasia ( Hoyer- aal-Hreidarsson syndrome) due to mutations in the dyskerato- sis congenita gene, DKC1 显示文摘Knight SW Heiss NS Vulliamy TJ 1999Br J Haematol1999,107,2:1
19Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita显示文摘Heiss NS Girod A Salowsky R 1999Hum Mol Genet1999,8,13:1
20X-linked dysk- eratosis congenita is caused by mutations in a highly con- served gene with putative nucleolar functions 显示文摘Heiss NS Knight SW Vulliamy TJ 1998Nat Gen- et1998,19,1:1
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