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31.
Claudia Gaspar Iscia Lopes-Cendes Anita L. DeStefano Patrícia Maciel Isabel Silveira Paula Coutinho Patrick MacLeod Jorge Sequeiros Lindsay A. Farrer G. A. Rouleau 《Human genetics》1996,98(5):620-624
Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration originally described in families of Portuguese-Azorean
ancestry. The hypothesis that its present world distribution could result from the spread of an original founder mutation
has been raised. To test this possibility we have conducted a linkage disequilibrium study of markers segregating with the
MJD1 locus in a total of 64 unrelated families of different geographical origins. Significant association was detected between
the MJD1 locus and marker alleles at loci D14S280, D14S1050 and D14S81. All affected individuals, except one Chinese family, had allele
3 (237 bp) at D14S280. This finding is consistent with a founder effect in our MJD population. However, distinct haplotypes
were observed in patients originating from the two Azorean islands showing the highest disease prevalence; therefore, the
possible existence of more than one founder mutation can not be excluded with the markers currently available.
Received: 27 February 1996 / Revised: 4 June 1996 相似文献
32.
Garry Lindsay Allan Jim Camakaris George J. F. Legge 《Biological trace element research》1994,40(2):103-126
A scanning proton microprobe has been used for the elemental microanalysis of individual fibroblast cells. Both normal fibroblasts and fibroblasts cultured from patients with Menkes' disease, an X-linked genetic disorder known to be associated with defective copper metabolism, were examined by the probe. The cells were cultured on a thin ultra-clean nylon foil and retained on that surface for analysis. The focused high-energy proton beam was used to irradiate selected individual cells and elemental information was derived from X-ray and backscattered proton data. The sensitivity of the scanning proton microprobe to trace concentrations of heavy elements has allowed this elemental information to be used to identify individual cells as being either normal or a Menkes' mutant. The cell identification was based on the application of discriminate analysis to a data set formed from the ratios of copper to each of the macroelements present in the cell. This method of cell identification offers the promise of rapid diagnosis of Menkes' disease. 相似文献
33.
The action ofClostridium perfringens cytotoxic enterotoxins may be activated/exacerbated both in vivo and in vitro by the addition of an activator molecule present in a brush border membrane fraction isolated from young rabbits. Increased concentrations of the activator could be induced by immunologically stimulating rabbits with Ribi adjuvant. Comparative studies suggested that the activator was interferon-gamma (IFN-). In vitro IFN- sensitized cell lines apparently by enhancement of cell permeability, which allowed a more rapid uptake of the toxins, resulting in cell death at lower toxin concentrations. Viral and/or bacterial infections are inducers of IFNs. We propose that some immunologically immature infants are predisposed to infection. In the weeks prior to death, these infants may suffer from an infection that induces the synthesis of IFNs, sensitizing the infant to a more virulent infection and possible sudden death.Florida Agricultural Experiment Station Journal Series No. R-02380 相似文献
34.
cDNA cloning and expression of a potato (Solanum tuberosum) invertase 总被引:10,自引:0,他引:10
Peter E. Hedley Gordon C. Machray Howard V. Davies Lindsay Burch Robbie Waugh 《Plant molecular biology》1993,22(5):917-922
A cDNA clone encoding an invertase isoenzyme has been isolated from a potato leaf cDNA library. The deduced amino acid sequence shows significant similarities to previously characterised invertases. The highest degree of overall similarity, including the signal peptide sequence, is to carrot cell wall invertase, suggesting that the potato gene encodes an apoplastic enzyme. Expression of the gene, as determined by RT-PCR, is detected in stem and leaf tissue, and at lower levels in tuber, but is absent from roots. 相似文献
35.
8-Hydroxydeoxyguanosine (8-OHdG) is now widely used as a sensitive marker of oxidative damage to DNA. When human granulocytes are stimulated with TPA, they release a large quantity of reactive oxygen species (superoxide, hydrogen peroxide) which might be expected to generate hydroxyl radicals (OH-) which in turn could produce 8-OHdG in the DNA. There had been considerable debate as to whether OH -is detectable in stimulated granulocytes; most workers now agree that none can be detected, unless exogenous iron is added. An earlier report had described that 8-OHdG (a marker of OH -) was increased in the DNA of TPA-stimulated, compared to control, granulocytes. We have repeated this experiment and have been unable to reproduce this Finding. We conclude that the amount of 8-OHdG produced in the DNA of TPA-stimulated human ganulocytes is indistinguishable from that seen in control (unstimulated) cells (less than one 8- OHdG/105 dG). 相似文献
36.
Tihomir Paul Obrenovitch Jutta Urenjak Douglas Arthur Richards † Yukihiko Ueda Gerald Curzon † Lindsay Symon 《Journal of neurochemistry》1993,61(1):178-186
Abstract: Changes in the extracellular levels of excitatory and inhibitory amino acid transmitters were studied in the rat striatum during penumbral ischaemia using intracerebral microdialysis. Effects of penumbral forebrain ischaemia were compared with those of ischaemia with sustained anoxic depolarisation and K+ (100 m M ). Comparisons were also made between different groups of animals at 2 and 24 h after dialysis probe implantation. The K+ stimulus did not provoke any release of excitatory amino acids in the 24-h group, probably reflecting a decrease of functional synapses adjacent to the probe. During 30 min of penumbral ischaemia, excitatory amino acids did not reach critical concentrations in the extracellular fluid, and increases in levels of inhibitory/modulatory amino acids were similar. On the other hand, severe transient ischaemia resulted in massive synchronous release of many neuroactive excitatory and inhibitory compounds, in both the 2- and 24-h groups. These and other data suggest that changes during severe ischaemia may arise from both neurotransmitter and metabolic pools. It is concluded that is- chaemic damage in the penumbra may not be related to extracellular neuroactive amino acid changes generated within this region. 相似文献
37.
Andrew R. J. Curtis Sophie Headland Susan Lindsay Nicholas S. T. Thomas Eileen Boye Smaragda Kamakari Paul Roustan Maria Anvret Jan Wahlstrom Gillian McCarthy Angus J. Clarke Shomi Bhattacharya 《Human genetics》1993,90(5):551-555
Four families, each with two individuals affectecd by Rett Syndrome (RS), were analysed using restriction fragment lenght polymorphisms and microsatellite markers from the X chromosome. In two of the families, X-linked dominant inheritance of the RS defect from a germinally mosaic mother could be assumed. Therefore, maternal X chromosome markers showing discordant inheritance were used to exclude regions of the X chromosome as locations of the RS gene. Much of the short arm could be excluded, including regions containing three candidate genes, OTC, synapsin 1 and synaptophysin. Although most of the long arm was inherited in common it was possible to exclude a centromeric region. Inheritance of X chromosome markers is also presented for two families with affected aunt-niece pairs, one of which has not been previously studied at the DNA level. 相似文献
38.
Emily H. Waddell Daniel S. Chapman Jane K. Hill Mark Hughes Azlin Bin Sailim Joseph Tangah Lindsay F. Banin 《Biotropica》2023,55(4):767-778
Intact tropical forests are generally considered to be resistant to invasions by exotic species, although the shrub Clidemia hirta (Melastomataceae) is highly invasive in tropical forests outside its native range. Release from natural enemies (e.g., herbivores and pathogens) contributes to C. hirta invasion success where native melastomes are absent, and here we examine the role of enemies when C. hirta co-occurs with native Melastomataceae species and associated herbivores and pathogens. We study 21 forest sites within agricultural landscapes in Sabah, Malaysian Borneo, recording herbivory rates in C. hirta and related native Melastoma spp. plants along two 100-m transects per site that varied in canopy cover. Overall, we found evidence of enemy release; C. hirta had significantly lower herbivory (median occurrence of herbivory per plant = 79% of leaves per plant; median intensity of herbivory per leaf = 6% of leaf area) than native melastomes (93% and 20%, respectively). Herbivory on C. hirta increased when closer to native Melastoma plants with high herbivory damage, and in more shaded locations, and was associated with fewer reproductive organs on C. hirta. This suggests host-sharing by specialist Melastomataceae herbivores is occurring and may explain why invasion success of C. hirta is lower on Borneo than at locations without related native species present. Thus, natural enemy populations may provide a “biological control service” to suppress invasions of exotic species (i.e., biotic resistance). However, lower herbivory pressures in more open canopy locations may make highly degraded forests within these landscapes more susceptible to invasion. 相似文献
39.
Studies were conducted to determine factors that influence the survival of bradyzoites of Neospora caninum within tissue cysts in the brains of experimentally inoculated mice. Viable tissue cysts were detected in the brains of mice inoculated 13 mo previously with either of 2 isolates (NC-1 or NC-2) of N. caninum. Bradyzoites within tissue cysts of the NC-2 isolate survived for at least 14 days at 4 C in refrigerated brain homogenates. Bradyzoites within tissue cysts of the NC-2 isolate also survived in the intact brain of a mouse carcass refrigerated at 4 C for 7 days. Bradyzoites within tissue cysts of the NC-3 isolate were killed by freezing at -20 C for 1 day. 相似文献
40.
P. Rizzu E. A. Lindsay C. Taylor H. O’Donnell A. Levy P. Scambler A. Baldini 《Mammalian genome》1996,7(9):639-643
We have identified and cloned a gene, ES2, encoding a putative 476 amino acid protein with a predicted M
r
of 52,568. The gene is localized within the DiGeorge/Velocardiofacial syndrome locus on 22q11.2 and is deleted in all the
patients in which a deletion within 22q11 could be demonstrated, with the exception of one patient. ES2 is expressed in all
the tissues studied. Sequence comparison showed identity with five ESTs and at the amino acid level the sequence was highly
similar to, and collinear with, a hypothetical C. elegans protein of unknown function. Mutation analysis was performed in 16 patients without deletion, but no mutation has been found.
The cDNA sequence is conserved in mouse and is localized on MMU16B1-B3, known to contain a syntenic group in common with HSA
22q11.2.
Received: 25 March 1996 / Accepted: 15 May 1996 相似文献