全文获取类型
收费全文 | 5154篇 |
免费 | 349篇 |
国内免费 | 1篇 |
出版年
2023年 | 34篇 |
2022年 | 18篇 |
2021年 | 128篇 |
2020年 | 90篇 |
2019年 | 107篇 |
2018年 | 120篇 |
2017年 | 107篇 |
2016年 | 177篇 |
2015年 | 266篇 |
2014年 | 305篇 |
2013年 | 397篇 |
2012年 | 472篇 |
2011年 | 393篇 |
2010年 | 278篇 |
2009年 | 238篇 |
2008年 | 331篇 |
2007年 | 313篇 |
2006年 | 281篇 |
2005年 | 242篇 |
2004年 | 205篇 |
2003年 | 206篇 |
2002年 | 169篇 |
2001年 | 47篇 |
2000年 | 48篇 |
1999年 | 55篇 |
1998年 | 26篇 |
1997年 | 27篇 |
1996年 | 35篇 |
1995年 | 30篇 |
1994年 | 25篇 |
1993年 | 26篇 |
1992年 | 33篇 |
1991年 | 27篇 |
1990年 | 21篇 |
1989年 | 24篇 |
1988年 | 17篇 |
1987年 | 12篇 |
1986年 | 18篇 |
1985年 | 17篇 |
1984年 | 10篇 |
1983年 | 8篇 |
1982年 | 10篇 |
1981年 | 10篇 |
1980年 | 15篇 |
1979年 | 13篇 |
1978年 | 13篇 |
1976年 | 7篇 |
1975年 | 9篇 |
1974年 | 7篇 |
1973年 | 8篇 |
排序方式: 共有5504条查询结果,搜索用时 93 毫秒
41.
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. 总被引:13,自引:1,他引:12 下载免费PDF全文
A. Renieri M. Bruttini L. Galli P. Zanelli T. Neri S. Rossetti A. Turco N. Heiskari J. Zhou R. Gusmano L. Massella G. Banfi F. Scolari A. Sessa G. Rizzoni K. Tryggvason P. F. Pignatti M. Savi A. Ballabio M. De Marchi 《American journal of human genetics》1996,58(6):1192-1204
The COL4A5 gene encodes the alpha5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report the first systematic analysis of all 51 exons of COL4A5 gene in a series of 201 Italian AS patients. We have previously reported nine major rearrangements, as well as 18 small mutations identified in the same patient series by SSCP analysis of several exons. After systematic analysis of all 51 exons of COL4A5, we have now identified 30 different mutations: 10 glycine substitutions in the triple helical domain of the protein, 9 frameshift mutations, 4 in-frame deletions, 1 start codon, 1 nonsense, and 5 splice-site mutations. These mutations were either unique or found in two unrelated families, thus excluding the presence of a common mutation in the coding part of the gene. Overall, mutations were detected in only 45% of individuals with a certain or likely diagnosis of X-linked AS. This finding suggests that mutations in noncoding segments of COL4A5 account for a high number of X-linked AS cases. An alternative hypothesis is the presence of locus heterogeneity, even within the X-linked form of the disease. A genotype/phenotype comparison enabled us to better substantiate a significant correlation between the degree of predicted disruption of the alpha5 chain and the severity of phenotype in affected male individuals. Our study has significant implications in the diagnosis and follow-up of AS patients. 相似文献
42.
Spartaco Santi Silvia Rubbini Caterina Cinti Stefano Squarzoni Alessandro Matteucci Elisabetta Caramelli Lia Guidotti Nadir M. Maraldi 《Biology of the cell / under the auspices of the European Cell Biology Organization》1994,81(1):47-57
Summary— In the sperm nuclei the DNA is packaged into a highly condensed form and is not organized into nucleosome and solenoid but is bound and stabilized mainly by the protamines that arrange the DNA in an almost crystalline state. As demonstrated for somatic cells, the sperm DNA has been reported to be organized in loop domains attached to the nuclear matrix structures. However, the possible role of the sperm head matrix in maintaining the loop organization in absence of a typical nucleosomal structures has not been fully elucidated. By using in situ nick translation at confocal and electron microscope level, we analyzed the organization of the DNAprotamine complex and its association with the sperm nuclear matrix. The data obtained indicate that the chromatin organization in sperm nuclei is maintained during the sperm condensation by means of interactions with the nuclear matrix at fixed sites. The fine stucture of sperm nucleus and of sperm nuclear matrix, investigated on sections and replicas of freeze-fractured specimens, suggests that the lamellar array, observed by freeze-fracturing in the sperm nuclei, could depend on the inner matrix which presents a regular organization of globular structures possibly involved in the maintenance of chromatin domains in highly condensed sperm nuclei also. 相似文献
43.
Maria Rita Santi Stefano Vicini †Basil Eldadah Joseph H. Neale 《Journal of neurochemistry》1994,63(6):2357-2360
Abstract: With the use of the single-cell polymerase chain reaction (PCR), the GABAA receptor subunit mRNA content was analyzed in granule and Purkinje neurons from rat cerebellar slices. We used an experimental protocol to assess simultaneously the presence of two subunits in each cell while electrophysiological recordings were performed with the whole-cell patch-clamp technique. Based on a computer alignment of the nucleotide sequence corresponding to α1 and α6 GABAA receptor subunits, homologous regions were identified that allowed coamplification of both mRNAs using a single primer combination. The presence of selective restriction sites within the targeted templates allowed us to identify which receptor subunit mRNAs were coamplified by performing restriction enzyme-mediated cleavage of the amplification products. In all Purkinje neurons assayed, α1 subunit mRNA but not α6 mRNA was detected. In contrast, among individual granule neurons we found a heterogeneous distribution of the mRNA for the α1 and α6 GABAA receptor subunits. A comparison of the results of the PCR amplification and the analysis of GABA-mediated inhibitory synaptic currents does not allow us to identify kinetic characteristics of synaptic currents that clearly correlate with the presence or the absence of α6 subunit mRNA. 相似文献
44.
Elena Albertazzi Rosanna Cardillo Stefano Servi Gioia Zucchi 《Biotechnology letters》1994,16(5):491-496
Summary 2-Phenylethanol and 2-phenylethylacetate important aroma components are obtained in substantial amounts whenHansenula anomala CBS 110 andKloeckera saturnus CBS 5761 are grown with L-phenylalanine as sole nitrogen source. Up to 2 g/L of mixtures of alcohol and ester are obtained. While in the first microorganism the alcohol predominates, in the second the acetate is formed almost exclusively. Experiments with 1-13C-d-Glucose show complete incorporation of the label into the methyl group of the acetate. 相似文献
45.
The enormous size of the human dystrophin gene (2300 kb) has so far hindered the analysis of its organization and the characterization at the genomic level of the deletion and duplication mutations causing Duchenne or Becker muscular dystrophy. A detailed physical map of the gene locus would considerably simplify these studies. We constructed a refined, long-range restriction map of the entire human dystrophin gene, using 12 overlapping YAC clones as DNA sources. The sites for six rare cutting enzymes (SfiI, NruI, EagI, BssHII, SacII, and NotI) were mapped by partial digest analysis of YACs over a region of 2600 kb, within a level of resolution of about 10 kb. Such a map provides the first detailed representation of the physical structure of the dystrophin gene. It will be useful for mapping unlocalized exons and, eventually, for the characterization of deletions and duplications leading to disease. 相似文献
46.
Serafina Salvati Lucilla Attorri Lorenzo Malvezzi Campeggi Antonella Olivieri Mariella Sorcini Stefano Fortuna Annita Pintor 《Neurochemical research》1994,19(9):1181-1186
The effect of hypothyroidism on the lipid composition of synaptosomes, density and affinity of muscarinic receptor sites, and acetylcholinesterase activity in the cerebral cortex of young and aged rats was investigated. The animals were made hypothyroid by adding 0.05% propyl-2-thiouracil to their drinking water for four weeks. This pathological state induced an increase in the relative percentage of sphingomyelin in young rats. In aged rats hypothyroidism induced a decrease of sphingomyelin and glycerophosphocholine and an increase of cholesterol. The effect of hypothyroid state on cerebral cortex resulted in an increase of acethylcholinesterase activity both in young and aged rats and was also reflected in an increase of density of M1-AChRs but only in the former. 相似文献
47.
Lucas P. Medeiros Stefano Allesina Vasilis Dakos George Sugihara Serguei Saavedra 《Ecology letters》2023,26(1):170-183
Managing ecological communities requires fast detection of species that are sensitive to perturbations. Yet, the focus on recovery to equilibrium has prevented us from assessing species responses to perturbations when abundances fluctuate over time. Here, we introduce two data-driven approaches (expected sensitivity and eigenvector rankings) based on the time-varying Jacobian matrix to rank species over time according to their sensitivity to perturbations on abundances. Using several population dynamics models, we demonstrate that we can infer these rankings from time-series data to predict the order of species sensitivities. We find that the most sensitive species are not always the ones with the most rapidly changing or lowest abundance, which are typical criteria used to monitor populations. Finally, using two empirical time series, we show that sensitive species tend to be harder to forecast. Our results suggest that incorporating information on species interactions can improve how we manage communities out of equilibrium. 相似文献
48.
Riccardo Fedeli Andrea Vannini Martina Grattacaso Stefano Loppi 《The Annals of applied biology》2023,183(2):135-140
Potato is the fourth most widely consumed staple food in the world. This study investigated the effectiveness of 0.2% wood distillate (WD), a biostimulant derived from the pyrolysis of waste plant biomass, in boosting the nutritional quality of potato tubers. The results showed that application of WD significantly increased the content of soluble sugars (sucrose +56.3%; glucose +44.9%; fructose +62.2%), starch (+35.1%) and total carbohydrates (+16.8%). Antioxidants (total antioxidant power, polyphenols, flavonoids) and most mineral elements (K, Mg, Ca, Na, Fe, Zn) were not affected. A lower content of Cu (−17.8%) and P (−24.5%) was found in WD-treated potato. 相似文献
49.
50.
Amira Azizan Stefano Anile Clayton K. Nielsen Emmanuel Paradis Sébastien Devillard 《Global Ecology and Biogeography》2023,32(10):1858-1869