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56篇 您的检索式：作者名="Vulliamy T"

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	题名	作者	年代	出处	被引量
1	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
2	Fine mapping of the dyskeratosis congenital locus in Xq28显示文摘	Knight S W Vulliamy T Fomi GL		0，，12：	1
3	Inherited aplastic anemias/bonemarrow failure syndromes 显示文摘	Dokal L Vulliamy T	2008	Blood Rev2008，22，3：	1
4	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
5	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
6	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
7	Association between aplastic anaemia and mutations in telomerase RNA显示文摘	Vulliamy T Marrone A Dokal I	2002	Lancet2002，359，9324：	1
8	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
9	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
10	The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita显示文摘	Vulliamy T Marrone A Goldman F	2001	Nature2001，413，6854：	1
11	Constitutional mutations in RTELI cause severe dyskeratosis congenital 显示文摘	Walne A J Vulliamy T Kirwan M	2013	Am J Hum Genet2013，92，3：	1
12	The RNA compoffent of telomerase is mutated in autosomal dominant dyskeratosis congenita 显示文摘	Vulliamy T Marrone A Goldman F	2001	Nature2001，413，6854：	1
13	Dyskeratosis congenita显示文摘	Vulliamy T Dokal I	2006	Semin Hematol2006，43，3：	1
14	Clinical utility gene card for: dyskeratosis congenita 显示文摘	Dokal I Vulliamy T Mason P	2011	Eur J Hum Genet2011，19，11：	1
15	The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita显示文摘	Vulliamy T Marrone A Goldman F	2001	Nature2001，413，6854：	1
16	TINF2 mutations result in very short telomeres : analysis of a large cohort of patients with dysk- eratosis congenita and related bone marrow failure syndromes 显示文摘	Walne A J Vulliamy T Beswick R	2008	Blood2008，112，9：	1
17	TINF2 mutations result in very short telomeres:analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes显示文摘	Walne AJ Vulliamy T Beswick R Kirwan M Dokal I		0，，09：	1
18	Dyskeratosis congenita (DC) registry: identification of new features of DC显示文摘	Knight S Vulliamy T Copplestone A	1998	Br J Haematol1998，103，4：	1
19	Very short telomeres in the peripheral blood of patients with x-linked and autosomal dyskeratosis congenital 显示文摘	VULLIAMY T J KNIGHT S W MASON P J	2001	Blood Ceils Mol Dis2001，27，：	1
20	Dyskeratosis congenita (DC) registry: identification of new features of DC显示文摘	Knight S Vulliamy T Copplestone A	1998	Br J Haematol1998，103，4：	1

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