全文获取类型
收费全文 | 83篇 |
免费 | 4篇 |
国内免费 | 8篇 |
专业分类
系统科学 | 3篇 |
理论与方法论 | 2篇 |
现状及发展 | 19篇 |
研究方法 | 14篇 |
综合类 | 50篇 |
自然研究 | 7篇 |
出版年
2021年 | 2篇 |
2020年 | 2篇 |
2019年 | 2篇 |
2018年 | 2篇 |
2017年 | 7篇 |
2016年 | 5篇 |
2015年 | 2篇 |
2014年 | 3篇 |
2013年 | 5篇 |
2012年 | 3篇 |
2011年 | 7篇 |
2010年 | 3篇 |
2009年 | 3篇 |
2008年 | 9篇 |
2007年 | 5篇 |
2006年 | 5篇 |
2005年 | 3篇 |
2004年 | 3篇 |
2003年 | 2篇 |
2002年 | 3篇 |
2000年 | 4篇 |
1994年 | 1篇 |
1989年 | 2篇 |
1981年 | 2篇 |
1980年 | 1篇 |
1979年 | 2篇 |
1978年 | 1篇 |
1976年 | 2篇 |
1974年 | 1篇 |
1967年 | 1篇 |
1966年 | 2篇 |
排序方式: 共有95条查询结果,搜索用时 78 毫秒
11.
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles 总被引:21,自引:0,他引:21
Seal S Thompson D Renwick A Elliott A Kelly P Barfoot R Chagtai T Jayatilake H Ahmed M Spanova K North B McGuffog L Evans DG Eccles D;Breast Cancer Susceptibility Collaboration 《Nature genetics》2006,38(11):1239-1241
We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081 controls (P = 0.0030), and we estimate that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2, P = 0.012). Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers. 相似文献
12.
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome 总被引:11,自引:0,他引:11
Ferland RJ Eyaid W Collura RV Tully LD Hill RS Al-Nouri D Al-Rumayyan A Topcu M Gascon G Bodell A Shugart YY Ruvolo M Walsh CA 《Nature genetics》2004,36(9):1008-1013
Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioral disturbances. Here we identified a locus associated with Joubert syndrome, JBTS3, on chromosome 6q23.2-q23.3 and found three deleterious mutations in AHI1, the first gene to be associated with Joubert syndrome. AHI1 is most highly expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage. Therefore, changes in AHI1 may have been important in the evolution of human-specific motor behaviors. 相似文献
13.
14.
Conditioning and opiate withdrawal 总被引:2,自引:0,他引:2
15.
The anaesthetic responses of homozygous mutant mice were compared with those of their normal heterozygous littermates. The two recessive mutations studied were beige (bg) and reduced pigmentation (rp). Homozygosity for either significantly increased the sleeping time of both sexes after treatment with pentobarbital, tribromoethanol or the steroid anaesthetic alphaxalone. 相似文献
16.
Pathological changes in inbred strains of mice following early thymectomy and irradiation 总被引:1,自引:0,他引:1
Summary Mice subjected to thymectomy and irradiation were found to develop a range of pathological change in various organs. These changes were accompanied by antibodies to a variety of self-components. The pattern of pathological and autoimmune change was found to vary with the strain. This strain-related expression did not appear to be associated with the major histocompatibility complex (H-2).This study was partly supported by the National Health and Medical Research Council of Australia.Author for correspondence and reprint requests. 相似文献
17.
18.
ZnO and Cr-doped ZnO thin films are grown on to glass substrates using reactive electron beam(e-beam) evaporation technique.Variation of structural,morphological,and optical properties with Cr doping is investigated.X-ray diffraction(XRD) studies show that the films are polycrystalline in nature with single phase.Energy dispersive spectroscopy(EDS) results demonstrate that Cr ions are substitutionally incorporated into ZnO.Atomic force microscopy(AFM) reveals that the films present a compact surface and root mean squared(RMS) roughness increased with Cr contents.The optical band gap energy Eg of the films has been determined using Transmission data by spectrophotometer and ellipsometry.The band gap energy found to be decreased with increasing Cr doping concentration.The optical constants(refractive index,extinction coefficient) are calculated using ellipsometry and found to increase with Cr doping concentration. 相似文献
19.
20.