全文获取类型
收费全文 | 80篇 |
免费 | 9篇 |
专业分类
89篇 |
出版年
2021年 | 3篇 |
2020年 | 1篇 |
2018年 | 3篇 |
2017年 | 1篇 |
2016年 | 1篇 |
2015年 | 5篇 |
2014年 | 3篇 |
2013年 | 2篇 |
2012年 | 1篇 |
2011年 | 2篇 |
2010年 | 2篇 |
2009年 | 2篇 |
2008年 | 1篇 |
2007年 | 5篇 |
2006年 | 3篇 |
2005年 | 5篇 |
2004年 | 6篇 |
2002年 | 2篇 |
2001年 | 3篇 |
2000年 | 3篇 |
1999年 | 4篇 |
1998年 | 10篇 |
1997年 | 3篇 |
1996年 | 2篇 |
1995年 | 2篇 |
1994年 | 3篇 |
1993年 | 4篇 |
1989年 | 1篇 |
1988年 | 1篇 |
1986年 | 1篇 |
1985年 | 1篇 |
1984年 | 2篇 |
1977年 | 1篇 |
排序方式: 共有89条查询结果,搜索用时 15 毫秒
71.
High frequency hearing loss correlated with mutations in the GJB2 gene 总被引:18,自引:0,他引:18
Wilcox SA Saunders K Osborn AH Arnold A Wunderlich J Kelly T Collins V Wilcox LJ McKinlay Gardner RJ Kamarinos M Cone-Wesson B Williamson R Dahl HH 《Human genetics》2000,106(4):399-405
Genetic hearing impairment affects approximately 1/2000 live births. Mutations in one gene, GJB2, coding for connexin 26 cause 10%-20% of all genetic sensorineural hearing loss. Mutation analysis in the GJB2 gene and audiology were performed on 106 families presenting with at least one child with congenital hearing loss. The families were recruited from a hospital-based multidisciplinary clinic, which functions to investigate the aetiology of sensorineural hearing loss in children and which serves an ethnically diverse population. In 74 families (80 children), the aetiology was consistent with non-syndromic recessive hearing loss. Six different connexin 26 mutations, including one novel mutation, were identified. We show that GJB2 mutations cause a range of phenotypes from mild to profound hearing impairment and that loss of hearing in the high frequency range (4000-8000 Hz) is a characteristic feature in children with molecularly diagnosed connexin 26 hearing impairment. We also demonstrate that this type of audiology and high frequency hearing loss is found in a similar-sized group of deaf children in whom a mutation could only be found in one of the connexin 26 alleles, suggesting connexin 26 involvement in the aetiology of hearing loss in these cases. In our study of the M34T mutation, only compound heterozygotes exhibited hearing loss, suggesting autosomal recessive inheritance. 相似文献
72.
M D Lee G E Quinton R E Beeman A A Biehle R L Liddle D E Ellis RJ Buchanan Jr 《Journal of industrial microbiology & biotechnology》1997,18(2-3):106-115
For the full scale implementation of in situ anaerobic bioremediation of tetrachloroethene (PCE) in groundwater, the following issues must be addressed: which organic
substrates at which concentration would be most effective in promoting dechlorination and are economical; how far the substrate,
electron acceptor, and nutrients can be transported in the aquifer; and the placement of delivery and recovery wells for
distributing these amendments. In a microcosm study, almost all of the tested inexpensive substrates supported reductive
dechlorination of PCE through vinyl chloride (VC) under methanogenic conditions. A minimum of about 60 mg L−1 of organic carbon was needed to dechlorinate 23 μM PCE with a single feeding. In a second microcosm study dechlorination
stopped at 1,2-dichloroethene (DCE) in microcosms fed higher concentrations of several substrates. At the highest concentrations
the substrates inhibited DCE production. Three field tracer tests were conducted to evaluate methods to distribute the amendments
across the aquifer. The natural groundwater gradient is not sufficient to distribute substrate evenly. Groundwater injection
at 60 times the natural flux rate increased the distribution of substrate. A mixing strategy of cross-gradient injection
further increased the distribution of the substrate. Ammonia-nitrogen, sulfate, and phosphate were retarded relative to
the substrate and inorganic tracer.
Received 30 October 1995/ Accepted in revised form 07 June 1996 相似文献
73.
Immunohistochemistry (IHC) is used to detect antibody-specific antigens in tissues; the results depend on the ability of the primary antibodies to bind to their antigens. Therefore, results depend on the quality of preservation of the specimen. Many investigators have overcome the deleterious effects of over-fixation on the binding of primary antibodies to specimen antigens using IHC, but if the specimen is under-fixed or fixation is delayed, false negative results could be obtained despite certified laboratory practices. Microtubule-associated protein 2 (MAP2) is an abundant microtubule-associate protein that participates in the outgrowth of neuronal processes and synaptic plasticity; it is localized primarily in cell bodies and dendrites of neurons. MAP2 immunolabeling has been reported to be absent in areas of the entorhinal cortex and hippocampus of Alzheimer’s disease brains that were co-localized with the dense-core type of amyloid plaques. It was hypothesized that the lack of MAP2 immunolabeling in these structures was due to the degradation of the MAP2 antigen by the neuronal proteases that were released as the neurons lysed leading to the formation of these plaques. Because MAP2 is sensitive to proteolysis, we hypothesized that changes in MAP2 immunolabeling may be correlated with the degree of fixation of central nervous system (CNS) tissues. We detected normal MAP2 immunolabeling in fixed rat brain tissues, but MAP2 immunolabeling was decreased or lost in unfixed and delayed-fixed rat brain tissues. By contrast, two ubiquitous CNS-specific markers, myelin basic protein and glial fibrillary acidic protein, were unaffected by the degree of fixation in the same tissues. Our observations suggest that preservation of various CNS-specific antigens differs with the degree of fixation and that the lack of MAP2 immunolabeling in the rat brain may indicate inadequate tissue fixation. We recommend applying MAP2 IHC for all CNS tissues as a pre-screen to assess the quality of the tissue preservation and to avoid potentially false negative IHC results. 相似文献
74.
75.
Liam D. Cassidy Andrew RJ. Young Pedro A. Pérez-Mancera Birgit Nimmervoll Adil Jaulim Hung-Chang Chen 《Autophagy》2018,14(7):1256-1266
Macroautophagy/autophagy is an evolutionarily conserved catabolic pathway whose modulation has been linked to diverse disease states, including age-associated disorders. Conventional and conditional whole-body knockout mouse models of key autophagy genes display perinatal death and lethal neurotoxicity, respectively, limiting their applications for in vivo studies. Here, we have developed an inducible shRNA mouse model targeting Atg5, allowing us to dynamically inhibit autophagy in vivo, termed ATG5i mice. The lack of brain-associated shRNA expression in this model circumvents the lethal phenotypes associated with complete autophagy knockouts. We show that ATG5i mice recapitulate many of the previously described phenotypes of tissue-specific knockouts. While restoration of autophagy in the liver rescues hepatomegaly and other pathologies associated with autophagy deficiency, this coincides with the development of hepatic fibrosis. These results highlight the need to consider the potential side effects of systemic anti-autophagy therapies. 相似文献
76.
77.
Laser photocoagulation induced choroidal neovascularization currently is the most effective model available for the study of this disease in terms of efficacy of new drugs and therapies. Previously, evaluating the extent of choroidal neovascularization using this model was time- consuming and required the use of experienced personnel. We describe a new method for simple and rapid evaluation of laser induced choroidal neovascularization using densitometry. Fluorescein angiograms of a laser photocoagulated rat eye were scanned into a computer. Densitometry software subsequently was used to calculate the severity of the laser lesions. The densitometry method proved effective for calculating the extent of laser induced choroidal neovascularization. In addition, this method was more rapid than visual evaluations and less likely to produce errors. 相似文献
78.
The self-incompatibility phenotype in brassica is altered by the transformation of a mutant S locus receptor kinase 总被引:2,自引:0,他引:2 下载免费PDF全文
The self-incompatible (SI) Brassica napus line W1, which carries the 910 S allele, was transformed with an inactive copy of the 910 S locus receptor kinase (SRK) gene. Two transformed lines were analyzed based on their heritable ability to set self-seed. The first line was virtually completely self-compatible (SC), and reciprocal pollinations with the original W1 line demonstrated that only the stigma side of the SI phenotype was altered. An analysis of the expression of endogenous SRK-910 demonstrated that the mechanism of transgene action is via gene suppression. Furthermore, the expression of the S locus glycoprotein gene present in the 910 allele (SLG-910), SLG-A10, which is derived from a nonfunctional S allele, and an S locus-related gene were also suppressed. When the transgene was crossed into another SI line carrying the A14 S allele, it was also capable of suppressing the expression of the endogenous genes and of making this line SC. The second transgenic line studied was only partly SC. In this case as well, only the stigma phenotype was affected, although no gene suppression was detected for endogenous SRK-910 or SLG-910. In this line, the expression of the transgene most likely was causing the change in phenotype, and no effect was observed when this transgene was crossed into the other SI line. Therefore, this work reinforces the hypothesis that the SRK gene is required, but only for the stigma side of the SI phenotype, and that a single transgene can alter the SI phenotype of more than one S allele. 相似文献
79.
Linda Fibiger Torbjörn Ahlström Pia Bennike Rick J. Schulting 《American journal of physical anthropology》2013,150(2):190-202
This article examines evidence for violence as reflected in skull injuries in 378 individuals from Neolithic Denmark and Sweden (3,900–1,700 BC). It is the first large‐scale crossregional study of skull trauma in southern Scandinavia, documenting skeletal evidence of violence at a population level. We also investigate the widely assumed hypothesis that Neolithic violence is male‐dominated and results in primarily male injuries and fatalities. Considering crude prevalence and prevalence for individual bones of the skull allows for a more comprehensive understanding of interpersonal violence in the region, which is characterized by endemic levels of mostly nonlethal violence that affected both men and women. Crude prevalence for skull trauma reaches 9.4% in the Swedish and 16.9% in the Danish sample, whereas element‐based prevalence varies between 6.2% for the right frontal and 0.6% for the left maxilla, with higher figures in the Danish sample. Significantly more males are affected by healed injuries but perimortem injuries affect males and females equally. These results suggest habitual male involvement in nonfatal violence but similar risks for both sexes for sustaining fatal injuries. In the Danish sample, a bias toward front and left‐side injuries and right‐side injuries in females support this scenario of differential involvement in habitual interpersonal violence, suggesting gendered differences in active engagement in conflict. It highlights the importance of large‐scale studies for investigating the scale and context of violence in early agricultural societies, and the existence of varied regional patterns for overall injury prevalence as well as gendered differences in violence‐related injuries. Am J Phys Anthropol, 2013. © 2012 Wiley Periodicals, Inc. 相似文献
80.
George Peat Rachel C Duncan Laurence RJ Wood Elaine Thomas Sara Muller 《Arthritis research & therapy》2012,14(2):R63-10