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48篇 您的检索式:作者名="Kelberman"
    题名 作者 年代 出处 被引量
1Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo- pituitary gonadal axis in mice and humans 显示文摘Kelberman D Rizzoti K Avilion A 2006J Clin Invest2006,116,9:1
2SOX2 plays a critical role in the pituitary, forebrain, and eye during hu- manembryonic development 显示文摘Kelberman D de Castro SC Huang S 2008The Journal of Clinical En- docrinology and Metabolism2008,3,:1
3SOX2 plays a critical role in the pituitary,forobrain,and eye during human embryonic development显示文摘Kelberman D de Castro SC Huang S 2008J Clln Endocrinol Metab2008,93,5:1
4Septo-optic dysplasiadysplasia novel insights into the aetiology显示文摘Kelberman D Dattani MT 2008Horm Res2008,69,5:1
5SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development 显示文摘Kelberman D Crolla JA Palmer R 2008J C lin Endoerinol Metah2008,93,5:1
6Mutations within SOX2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans显示文摘Kelberman D Rizzoti K Avilion A 0,,09:1
7SOX2 plays a critical role in the pituitary,forebrain and eye during human embryonic development 显示文摘Kelberman D de Castro SC Huang S 2008J Clin Endocrinol Metab2008,93,5:1
8Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome显示文摘Kelberman D Tyson J Chandler DC 2001Hum Genet2001,109,6:1
9Mutations within SOX2/SOX2 are associated with abnormalities in the hypothalamo pituitary-gonadal axis in mice and humans显示文摘Kelberman D Rizzoti K Avilion A 2006J Clin Invest2006,116,9:1
10Hemifacial microsomia:progress inunderstanding the genetic basis of a complex malformation syndrome显示文摘Kelberman D Tyson J Chandler DC 2001Hum Genet2001,109,:1
11Hemifacial microsomia:progress in understanding the genetic basis of a complex malformation syndrome显示文摘Kelberman D Tyson J Chandler DC 2001Hum Genet2001,10,6:1
12Heterozygous missense mutations in steroidogenic factor 1(SF1/Ad4BP,NR5A1)are associated with 46,XY disorders of sex development with normal adrenal function显示文摘Lin L Philibert P Kelberman D 2007J Clin Endocrinol Metab2007,92,3:1
13Analysis of common IL- 6 promoter SNP variants and the AnTn tract in humans and primates and effects on plasma IL-6 levels following coronary artery bypass graft surgery 显示文摘Kelberman D Fife M Rockman MV 2004Biochim Biophys Acta2004,1688,2:1
14Mutations within SOX2/SOX2 are associated with abnormalities in the hypothalamo-pituitarygon-adal axis in mice and humans显示文摘Kelberman D Rizzoti K Avilion A 2006J Clin Invest2006,116,9:1
15Hypothalamic and pituitary development: novel insights into the aetiology 显示文摘Kelberman D Dattani MT 2007Eur J Endocrinol2007,157,1:1
16Blackwell Publishing Ltd Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency(CPHD)显示文摘D Kelberman JPG Turton 2009Clinical Endocrin ology2009,70,:1
17The role of SOX proteins in normal pitui- tary development 显示文摘A latzoglou KS Kelberman D 2009Journal of Endocrinology2009,200,3:1
18Hypopituitarism oddities: congenital causes显示文摘Kelberman D Dattani MT 2007Horm Res2007,68,5:1
19Hemifacial microsomia:progress in understanding the genetic basis of a complex malformation syndrome显示文摘KELBERMAN D TYSON J CHANDLER D C 2001Hum Genet2001,109,6:1
20Expanding the spectrum of mutations in GH1 and GHRHR : genetic screening in a large cohort of patients with congenital isolated growth hormone defi- ciency 显示文摘Alatzoglou KS Turton JP Kelberman D 2009J Clin Endocrinol Metab2009,94,9:1
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