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28篇 您的检索式:作者名="Spritz R"
    题名 作者 年代 出处 被引量
1Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism 显示文摘Spritz R A Strunk K M Giebel L B 1990New England Journal of Medicine1990,332,:1
2Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment显示文摘Giebel L B Strunk K M Spritz R A 1991Genomics1991,9,:1
3Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism显示文摘Spritz RA Holmes SA Ramesar R 1992Am J Hum Genet1992,51,5:1
4Letter: Misdiagnosis of ' neurofibromatosis' in patients with piebaldism 显示文摘Spritz R 2011Dermatol Online J2011,17,11:1
5Mutation of the KIT (mast/stem cell growth factor receptor) proto-onco- gene in human piebaldism显示文摘GIEBEL L B SPRITZ R A 1991Proc Natl Acad Sci USA1991,88,:1
6Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism显示文摘Giebel L B Spritz R A 1991Proc Nail Acad Sci USA1991,88,19:1
7Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23显示文摘Suzuki K Bustos T Spritz R A 1998Am J Hum Genet1998,63,4:1
8Compreheensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type显示文摘HUTTON S M SPRITZ R A 2008J Invest Dermatol2008,128,10:1
9Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3) , confir- mation of SLEV1 on chromosome 17, and their roles in an autoim- mune diathesis 显示文摘Spritz R A Gowan K Bennett D C 2004Am J Hum Genet2004,74,1:1
10Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEVlon chromosome 17, and their roles in an autoimmune diathesis 显示文摘SPRITZ R A GOWAN K BENNETT D C 2004Am J Hum Genet2004,74,1:1
11Organization and nucleotide sequences of the human Tyrosinase gene and a truncated tyrosinase-related segment 显示文摘GIEBEL L B STRUNK K M SPRITZ R A 1991Genomics1991,9,3:1
12Mutational analysis of copper binding by human tyrosinase显示文摘Spritz R A Ho L Furumura M 1997Journal of Investigative Dermatology1997,109,2:1
13Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism显示文摘Spritz RA Holmes SA Ramesar R 1992Am J Hum Genet1992,51,5:1
14Apparent digenic inheritance of Waardenburg syndrome type 2 ( WS2 ) and autosomal recessive ocular albinism ( AROA ) 显示文摘Morell R Spritz R A Ho L 1997Hum Mol Genet1997,6,5:1
15Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment显示文摘GIEBELL B STRUNKK M SPRITZ R A 1991Genomic1991,9,:1
16Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism显示文摘Spritz R A Strunk K M Giebel L B 1990New England Journal of Medicine1990,332,:1
17Mutation of the KIT(mast/stem cell growth factor receptor) proto-oncogene in human piebaldism显示文摘GIEBEL L B SPRITZ R A 1991Proc Natl Acad Sci USA1991,88,19:1
18Molecular genetics of oculocutaneous albinism显示文摘Spritz R A 1994Hum Mol Genetics1994,3,:1
19Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrusinase-related segment 显示文摘Giebel L B Strunk K M Spritz R A 1991Genomics1991,9,3:1
20The genetics of generalized vitiligo and associated autoimmune diseases显示文摘Spritz R A 2006J Dermatol Sci2006,41,:1
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