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16篇 您的检索式:期刊名="Hum Mol Cenet"
    题名 作者 年代 出处 被引量
1Contrasting effects on HIF-lalpha regulation by disease-cansing pVHL mutations correlate with pattern of tumorigenesis in yon Hippel-Lindau disease显示文摘Clifford SC Cokman ME Smallwood AC 2001Hum Mol Cenet2001,10,10:1
2The retinitis pigmentosa protein RP2 links pericentrio]ar vesicle transport between the Golgi and the primary cilium显示文摘Evans RJ Schwarz N Nagel-Wolfrum K 2010Hum Mol Cenet2010,19,7:1
3C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon 显示文摘Choe CU Schulze-Bahr E Neu A 2006Hum Mol Cenet2006,15,19:1
4Mutations in connexin31 underlie re- cessive as well as dominant non - syndromie heating loss 显示文摘Liu XZ Xia XJ Xu LR 2000Hum Mol Cenet2000,9,:1
5Finetuning in Ca2 + homeostasis underlies progyession of eardiomyopathy in myocytes derived from genetically, modified embryonic stem cells 显示文摘Gty C Mey A Puleat M 2005Hum Mol Cenet2005,14,10:1
6Structural stability and chromosome-specific telomere length is governed by cis acting determinants in humans显示文摘Britt compton B Rowson J Locke M 2006Hum Mol Cenet2006,,15:1
7Mutations in connexin3 underlie recessive as well as dominant non syndromic heating loss显示文摘Liu XZ Xia XJ Xu LR 2000Hum Mol Cenet2000,9,:1
8ZNF217 suppresses cell death as- sociated with chemotherapy and telomere dysfunction显示文摘Hung G Krig S Kowbel D 2005Hum Mol Cenet2005,14,21:1
9Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiC, eorge syndrome 显示文摘Roberts C Daw S C Halford S 1997Hum Mol Cenet1997,6,2:1
10Hailey-Hailey disease is caused by mutations in ATP2CI encoding a novel Ca(2+) pump 显示文摘Sudbrak R Brown J Dobson-Stone C 2000Hum Mol Cenet2000,9,7:1
11Halley- Hailey disease is caused by mutations in ATtr2CI encoding a novel Ca(2+) pump 显示文摘Sudbrak R Brown J Dobson- Stnne C 2000Hum Mol Cenet2000,9,7:1
12Cancer epigenetices 显示文摘Laird PW 2005Hum Mol Cenet2005,14,1:1
13Rapid detection of the hypertension-associated Met235→Thr allele of the human angiotensinogen gene显示文摘Russ AP Maerz W Ruzicka V 1993Hum Mol Cenet1993,2,5:1
14Computational methods for the identification of differential and coordinated gene expression显示文摘Claverie JM 1999Hum Mol Cenet1999,8,10:1
15A gene for monilethrix is closely linked to the type Ⅱ keratin gene cluster at 12q13显示文摘Healy E Holmes SC Belgaid CE 1995Hum Mol Cenet1995,4,:1
16SBPX2 mutations in disorders of language cortex and cognition 显示文摘Roll P Rudolf G Pereira S 2005Hum Mol Cenet2005,15,7:1
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