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241.
Since 1995 the Forensic Science Service (FSS) has carried out DNA profiling of reference samples for the UK National DNA Database and in forensic casework using two multiplex STR profiling systems. During this period, profiles with anomalous banding patterns, although comparatively rare, have been encountered regularly. The FSS has collected instances of triallelic patterns and aberrant diallelic patterns. A systematic examination of these patterns has provided insight into their underlying genetic cause. The triallelic patterns could be classified into two types based on the relative intensities of their component alleles. In the Type 1 pattern the alleles were of uneven intensity, whereas in the Type 2 pattern, all three alleles were of even intensity. Evidence is presented that the more frequent Type 1 pattern is the result of somatic mutation at a heterozygous locus, and the Type 2 pattern is the result of a localized chromosomal rearrangement at a heterozygous locus. Directly from the Type 1 pattern, it was possible to deduce the size difference between the progenitor and mutated allele. All mutational changes were found to be multiples of four nucleotides, suggesting the loss or addition of one or more tetrameric repeat units. Aberrant diallelic patterns were identified by analysts due to an unexpectedly large difference in intensity between alleles at a heterozygous locus. While some of these diallelic patterns are likely caused by the same genetic phenomena described above occurring at a homozygous locus, others are demonstrated to be caused by a mutation in the primer binding sequence, leading to a reduction in amplification efficiency of one allele. It is concluded that based on a visual inspection of a profile, it is possible to infer a likely genetic basis directly from the triallelic pattern. By contrast, the aberrant diallelic patterns can be due to any one of a number of possible genetic effects. 相似文献
242.
Multiplex analysis of genetic markers has become increasingly important in a number of fields, including DNA diagnostics and human identity testing. Two methods for examination of single nucleotide polymorphisms (SNPs) with a potential for a high degree of multiplex analysis of markers are primer extension with fluorescence detection, and allele-specific hybridization using flow cytometry. In this paper, we examined 50 different SNPs on the Y-chromosome using three primer extension multiplexes and five hybridization multiplex assays. For certain loci, the allele-specific hybridization method exhibited sizable background signal from the absent alternate allele. However, 100% concordance (>2000 alleles) was observed in ten markers that were typed using both methods. A total of 18 unique haplogroups out of a possible 45 were observed in a group of 229 U.S. African American and Caucasian males with the majority of samples being assigned into 2 of the 18 haplogroups. 相似文献
243.
244.
A simple method for analyzing nitrite in urine has been developed to confirm and quantify the amount of nitrite in potentially adulterated urine samples. The method involved separation of nitrite by capillary electrophoresis and direct UV detection at 214 nm. Separation was performed using a bare fused silica capillary and a 25 mM phosphate run buffer at a pH of 7.5. Sample preparation consisted of diluting the urine samples 1:20 with run buffer and internal standard, and centrifuging for 5 min at 2500 rpm. The sample was hydrodynamically injected, then separated using -25 kV with the column maintained at 35 degrees C. The method had upper and lower limits of linearity of 1500 and 80 microg/mL nitrite, respectively, and a limit of detection of 20 microg/mL. The method was evaluated using the National Committee for Clinical Laboratory Standards (NCCLS) protocol (Document EP10-A2), and validated using controls, standards, and authentic urine samples. Ten anions, ClO-, CrO4(-2), NO3-, HCO3-, I-, CH3COO-, F-, SO4-, S2O8(-2), and Cl-, were tested for potential interference with the assay. Interferences with quantitation were noted for only CrO4(-2) and S2O8(-2). High concentrations of Cl- interfered with the chromatography. The method had acceptable accuracy, precision, and specificity. 相似文献
245.
246.
Szentmariay IF Laszik A Sotonyi P 《The American journal of forensic medicine and pathology》2004,25(4):324-326
A 70-year-old male patient with a 23-year-old history of right lower lung lobectomy for primary pulmonary adenocarcinoma (T1 N0 M0) presented with recurrent bronchopneumonia and purulent sputum. Pleural callus, lung abscess, bronchopleural fistula, and stitch granulomas were confirmed by chest x-ray, computed tomography scan, and bronchoscopy in the background of his complaints. An attempt to remove the bronchial purulent discharge and tissue sampling was made by using a flexible bronchoscope. The area of the lower trachea suddenly became clogged during bronchoscopic removal of the suspected piece of tissue (which later turned out to be organizing surgical gauze). The resuscitation following ventricular fibrillation failed to save the patient's life. The forensic postmortem examination confirmed the position of the foreign body extending from the abscess cavity, crossing the midline at carina and obstructing the lower trachea. This foreign body was a remnant of the surgical gauze left behind during a thoracic surgery 23 years ago. 相似文献
247.
248.
Balogh MK Burger J Bender K Schneider PM Alt KW 《Forensic science international》2003,137(2-3):188-195
A systematic study was conducted to investigate whether DNA can be successfully extracted from latent fingerprints deposited on ordinary paper and analysed using short tandem repeat profiling and mitochondrial DNA sequencing. In order to evaluate the performance of latent fingerprint analysis in a criminal case, experiments with varying conditions were carried out to improve our understanding of low copy number (LCN) DNA typing. After optimising the extraction methods to achieve increased sensitivity, the examination of touched paper can routinely yield the STR profile of the individual who has touched it. A fingerprint can therefore be considered as a potential source of DNA for genetic identification. Nevertheless, the findings of our "after enhancement experiment" (using chemically or physically pre-treated fingerprints), and our "mixture experiment" (using fingerprints from three to four people on the same sheet of paper) help to define the limitations of the low copy number PCR technique in forensic casework. 相似文献
249.
The aim of the study was to test the hypothesis that polymerase slippage correlates to the length of repeat stretches consisting of uniform repeats against the alternative hypothesis that the total number of repeats is most relevant. Two short tetrameric short tandem repeats (STRs) with different repeat structures were investigated: D3S1545 containing only homogeneous (GATA)n repeat stretches and D7S1517 with compound repeat arrays of GAAA and CAAA repeats. Additionally two different polymerases (Herculase and AmpliTaq Gold) were used which gave comparable results. No correlation was found for the hypothesis "total repeat number against percent of stutter"; in contrast, the other hypothesis that the number of uniform repeats is relevant for the degree of stutter gave a strong positive correlation (0.82 for selected D7S1517 alleles) which confirmed the hypothesis that polymerase slippage correlates to the length of repeat stretches consisting of uniform repeats. 相似文献
250.
Henk Elffers Peter van der Heijden Merlijn Hezemans 《Journal of Quantitative Criminology》2003,19(4):409-439
Within a rational choice framework, secondary data analysis of a survey study on compliance with two Dutch regulatory laws is carried out. Selection of explanatory variables to be considered is guided by a heuristic device, called the Table-of-Eleven. Using adapted logistic regression analysis, we show that self-reported compliance, measured by means of a randomized response procedure, can be explained in terms of benefits of non-compliance, social norms and deterrence, while knowledge and general norm-conformity have no role to play. The impact of various contributing factors turns out to be rather different in size for the two laws. 相似文献