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109篇 您的检索式：作者名="Vulliamy"

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	题名	作者	年代	出处	被引量
1	Superior mesenteric artery syndrome and“the nutcracker phenomenon”显示文摘	VULLIAMY P HARIHARAN V GUTMANN J	2013	BMJ case Rep2013，，：	1
2	Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene显示文摘	Vulliamy T Beutler E Luzzatto L	1993	Hum Mutat1993，2，3：	1
3	Fine mapping of the dyskeratosis congenital locus in Xq28显示文摘	Knight S W Vulliamy T Fomi GL		0，，12：	1
4	X-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
5	Inherited aplastic anemias/bonemarrow failure syndromes 显示文摘	Dokal L Vulliamy T	2008	Blood Rev2008，22，3：	1
6	Effects of MSC co-injection on the reconstitution of aplastic anemia patient following hematopoietic stem cell transplantation显示文摘	Jaganathan BG Tisato V Vulliamy T		0，，：	1
7	Mutations in the reverse transcriptase component of telomerase(TERT)in patients with bone marrow failure显示文摘	Vulliamy TJ Walne ABaskaradasA		0，，03：	1
8	Clinical utility gene card hr: Dys- keratosis congenita -update 2015 显示文摘	Dokal I Vulliamy T Mason P	2015	Eur J Hum Genet2015，23，4：	1
9	The RNA compo-nent of telomerase is mutated in autosomal dominant dys-keratosis congenital显示文摘	Vulliamy T Marrone A Goldman F		0，，6854：	1
10	Association between aplastic anaemia and mutations in telomerase RNA显示文摘	Vulliamy T Marrone A Dokal I	2002	Lancet2002，359，9324：	1
11	Exogenous TERC alone can enhance proliferative potential, telomerase activity and te- lomere length in lymphocytes from dyskeratosis congenita patients显示文摘	Kirwan M Beswick R Vulliamy T	2009	Br J Haematol2009，144，5：	1
12	Fine mapping of the dyskeratosis congenita locus in Xq28显示文摘	Knight SW Vulliamy TJ Forni GL	1996	J Med Genet1996，33，12：	1
13	Xlinked 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	1998	Nat Genet1998，19，1：	1
14	X-linked dyskeratosis congenital is caused by mutations in a highly conserved gene with putative nucleolar functions显示文摘	Knight SW Vulliamy TJ	1998	Nat Genet1998，19，1：	1
15	Identification of novel DKC1 mutations in patients with dyskeratosis congenital:implications for pathophysiology and diagnosis显示文摘	Vulliamy TJ Morgan B	2001	Hum genet2001，108，：	1
16	Unexplained 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	1999	Br J Haematol1999，107，2：	1
17	Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency 显示文摘	Marrone A Stevens D Vulliamy T	2004	Blood2004，104，13：	1
18	Dyskeratosis congenita caused by a 3 ' deletion:germline and somatic mosaicism in a female carrier显示文摘	Vulliamy TJ Knight SW Heiss NS	1999	Blood1999，94，4：	1
19	X-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	1998	Nat Genet1998，19，1：	1
20	Identification of novel DKC1 mutations in patients with dyskeratosis congenita:implications for pathophysiology and diagnosis显示文摘	Knight SW Vulliamy TJ Morgan B	2001	Hum Genet2001，108，4：	1

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