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109篇 您的检索式:作者名="Estivill"
    题名 作者 年代 出处 被引量
1Cornexin 26 mutations associated with the most common form of nonsyndromic neurosersory autosomal recessive deafness (DFNB1) in Meditenanears显示文摘Zelante L Gasparni P Estivill X 0,,:1
2Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients显示文摘Hüffmeier U Estivill X Riveira-Munoz E 2010Ann Rheum Dis2010,69,5:1
3Connexin-26 mutations in sporadic and inherited sensorineual deafness显示文摘Estivill X Fortina P Surrey S 1998Lancet1998,351,9100:1
4Con- nexin-26 mutations in Sporadic and inherited sensori- neural deafness显示文摘ESTIVILL X FORTINA P SURREY S 1998Laneet1998,351,:1
5Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin?26) gene显示文摘R. Rabionet L. Zelante N. López-Bigas L. D’Agruma S. Melchionda G. Restagno M.L. Arbonés P. Gasparini X. Estivill 2000Human Genetics2000,,1:1
6Nocturia in Spanish patients with lower urinary tract symptoms suggestive of benign prostatic hyperplasia ( LUTS/BPH ) 显示文摘Hemandez C Estivill E Prieto M 2008Curr Med Res Opin2008,24,4:1
7Ex-pression profiles of the connexin genes, Gjb1 and Gjb3, in the de-veloping mouse cochlea显示文摘López-Bigas N Arbonés ML Estivill X Simonneau L 0,,01:1
8Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by reatment of aminoglycosides显示文摘Estivill X Govea N Barcelo E 1998Am Hum Genet1998,6227,:1
9Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans显示文摘Zelante L Gasparini P Estivill X 1997Hum Mol Genet1997,6,9:1
10Deletion of LCE3B and LCE3C genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in german patients显示文摘Htiffmeier U Estivill X Riveira-Munoz E 2010Ann Rheum Dis2010,69,:1
11Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining:application to neurofibromatosis and cystic fibrosis显示文摘Lazaro C Estivill X 1992Mol Cell Probes1992,6,5:1
12Cochlear alterations in deaf and unaffected subjects carrying the deafness- associated A1555G mutation in the mitochondrial 12S rRNA gene显示文摘Bravo O Ballana E Estivill X 2006Biochem Biophys Res Commun2006,344,:1
13Mierosatel ite instability may involve the pentanucleotide repeat of the PIG3 promoter in bcr/abl acute lymphoblastic leukemia显示文摘Nomdedeu JF Perea G Estivill C 2008Leuk Res2008,32,1:1
14Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in mediterraneans显示文摘Zelante L Gasparini P Estivill X 1997Hum Mol Genet1997,6,:1
15Linkage of DFNB1 to nonsyndromic neurosensor autosomal-recessive deafness in Mediterranean families显示文摘Gasparini P Estivill X Volpini V 1997Eur J Hum Genet1997,5,:1
16Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides显示文摘Estivill X Govea N Barcelo E 1998Am J Hum Genet1998,62,:1
17Copy number variants and genetic traits: closer to the resolution of pheno- typic to genotypic variability 显示文摘Beckmann JS Estivill X Antonarakis SE 2007Nat Rev Genet2007,8,8:1
18Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability 显示文摘Beckmann J S Estivill X Antonarakis S E 2007Nat Rev Genet2007,8,8:1
19Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans显示文摘Zelante L Gasparini P Estivill X 0,,09:1
20Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins显示文摘RABIONET R GASPARINI P ESTIVILL X 2000Hum Mutat2000,16,:1
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