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79篇 您的检索式:作者名="Spritz"
    题名 作者 年代 出处 被引量
1Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation显示文摘Scott W. Biggins James Trotter Jane Gralla James R. Burton Kiran M. Bambha Jennifer Dodge Megan Brocato Linling Cheng Matt McQueen Lisa Forman Michael Chang Igal Kam Gregory Everson Richard A. Spritz Goran Klintmalm Hugo R. Rosen 2013Journal of Hepatology2013,,5:2
2Detection 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
3Piebaldism and neurofibromatosis type 1 :horses of very different colors 显示文摘Spritz RA Itin PH Gutmann DH 2004J Invest Dermatol2004,122,2:1
4Organization 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
5Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism显示文摘Spritz RA Giebel LB Holmes SA 1992Am J Hum Genet1992,50,2:1
6The molecular basis of oculocutaneous albinism type 1 ( OCA1 ) : sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation 显示文摘TOYOFUKU K WADA I SPRITZ RA 2001Biochem J2001,355,2:1
7Mutations 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
8A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases 显示文摘Birlea SA Fain PR Spritz RA 2008Arch Dermatol2008,144,3:1
9The genetics and epigenetic of orofacial clefts显示文摘Spritz RA 2001Curr Opin Pediatr2001,13,6:1
10Letter: Misdiagnosis of ' neurofibromatosis' in patients with piebaldism 显示文摘Spritz R 2011Dermatol Online J2011,17,11:1
11Mutation 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
12A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13显示文摘Ho L Williams MS Spritz RA 1998Am J Hum Genet1998,62,5:1
13Mutation 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
14Six decades of vitiligo genetics : genome-wide studies provide insights into autoimmune pathogenesis显示文摘Spritz RA 2012J Invest Dermatol2012,132,2:1
15Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism显示文摘Giebel LB Spritz RA 1991Proc Natl Aead Sci U S A1991,88,:1
16Linkage 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
17MR imaging of marrow changesadjacent to end plates in degenerative lumbar disk disease 显示文摘Roos A Kressel H Spritze C 1987AJR AmJ Roentgenol1987,149,30:1
18Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease 显示文摘Spritz RA 2010Thyroid2010,20,7:1
19Human and mouse disorders of pigmentation显示文摘Richard A Spritz P-WC Naoki Oisoz 2003Current Opinion in Genetics & Development2003,13,:1
20Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis 显示文摘Spritz RA 2012J Invest Dermatol2012,132,2:1
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