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91.
Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17 总被引:15,自引:9,他引:6 下载免费PDF全文
Jane W. Fountain Margaret R. Wallace Anne M. Brereton Peter O''''Connell Raymond L. White Donna C. Rich David H. Ledbetter Robin J. Leach R. E. Keith Fournier Anil G. Menon James F. Gusella David Barker Karen Stephens Francis S. Collins 《American journal of human genetics》1989,44(1):58-67
The von Recklinghausen neurofibromatosis (NF1) locus has been linked to chromosome 17, and recent linkage analyses place the gene on the proximal long arm. NF1 probably resides in 17q11.2, since two unrelated NF1 patients have been identified who possess constitutional reciprocal translocations involving 17q11.2 with chromosomes 1 and 22. We have used a somatic-cell hybrid from the t(17;22) individual, along with other hybrid cell lines, to order probes around the NF1 locus. An additional probe, 17L1, has been isolated from a NotI linking library made from flow-sorted chromosome 17 material and has been mapped to a region immediately proximal to the translocation breakpoint. While neither NF1 translocation breakpoint has yet been identified by pulse-field gel analysis, an overlap between two probes, EW206 and EW207, has been detected. Furthermore, we have identified the breakpoint in a non-NF1 translocation, SP-3, on the proximal side of the NF1 locus. This breakpoint has been helpful in creating a 1,000-kb pulsed-field map, which includes the closely linked NF1 probes HHH202 and TH17.19. The combined somatic-cell hybrid and pulsed-field gel analysis we report here favors the probe order D17Z1-HHH202-TH17.19-CRYB1-17L1-NF1- (EW206, EW207, EW203, L581, L946)-(ERBB2, ERBA1). The agreement in probe ordering between linkage analysis and physical mapping is excellent, and the availability of translocation breakpoints in NF1 should now greatly assist the cloning of this locus. 相似文献
92.
Walter Kegel Christensen 《Pal?ontologische Zeitschrift》1990,64(1-2):75-90
A sample ofActinocamax primus Arkhangelsky, 1912 from the Lower Middle Cenomanian limestones of the Wunstorf quarry west of Hannover (NW Germany) is studied by univariate and bivariate biometric methods in order to analyse the variation of critical characters.A. primus is closely related toA. plenus (Blainville, 1825) but differs from that species by being smaller and more slender.A. primus appears in the Lower Cenomanian and continues into the Lower Middle Cenomanian. It is mainly distributed in the northern part of the North European Palaeobiogeographic Province.A. plenus is recorded from the Middle Cenomanian-lower Lower Turonian of the Russian Platform, but only from the Middle Upper Cenomanian in NW Europe. It is widespread in the North European Province.The primus event in the Lower Middle Cenomanian and theplenus event in the Middle Upper Cenomanian are briefly discussed. 相似文献
93.
In West Africa, rice is grown in three constrasting ecosystems, upland, phreatic, and lowland, which is characterized by differing
water availability and soil properties. These ecosystems influence the predisposition of rice to disease problems, including
the grain discoloration complex. Discoloration of the hull was found to be most severe in the upland, less in the phreatic,
and least in the water-saturated lowland ecosystem. Caryopsis discoloration, however, showed no consistent pattern in relation
to the three ecosystems and was not correlated with hull discoloration, indicating that other factors are involved. 相似文献
94.
Paramyxovirus type 2 (PMV-2) isolated from wild birds is often considered non-pathogenic, but nothing is known about its effects on overall behavior and fitness of free-flying birds. Domestically bred, African cut-throat finches (Amadina fasciata), a species from which PMV-2 has been isolated in the wild, were inoculated with a Central American field strain of PMV-2. Patterns of behavior were examined before and after viral challenge to quantify inapparent, sublethal effects of the disease. Infected birds demonstrated a significant decrease in activity (P = 0.01) followed by an apparent recovery period. Antibody titers confirmed infection in inoculated birds and indicated that sentinel birds did not become infected. 相似文献
95.
Denitrification and oxygen respiration in biofilms studied with a microsensor for nitrous oxide and oxygen 总被引:4,自引:0,他引:4
Lars Peter Nielsen Peter Bondo Christensen Niels Peter Revsbech Jan Sørensen 《Microbial ecology》1990,19(1):63-72
Depth distributions of O2 respiration and denitrification activity were studied in 1- to 2-mm thick biofilms from nutrient-rich Danish streams. Acetylene was added to block the reduction of N2O, and micro-profiles of O2 and N2O in the biofilm were measured simultaneously with a polarographic microsensor. The specific activities of the two respiratory processes were calculated from the microprofiles using a one-dimensional diffusion-reaction model. Denitrification only occurred in layers where O2 was absent or present at low concentrations (of a fewM). Introduction of O2 into deeper layers inhibited denitrification, but the process started immediately after anoxic conditions were reestablished. Denitrification activity was present at greater depth in the biofilm when the NO3
– concentration in the overlying water was elevated, and the deepest occurrence of denitrification was apparently determined by the depth penetration of NO3
–. The denitrification rate within each specific layer was not affected by an increase in NO3
– concentration, and the half-saturation concentration (Km) for NO3
– therefore considered to be low (<25M). Addition of 0.2% yeast extract stimulated denitrification only in the uppermost 0.2 mm of the denitrification zone indicating a very efficient utilization of the dissolved organic matter within the upper layers of the biofilm. 相似文献
96.
Monophenol oxidase (MPO) activity in hemocytes collected from Aedes aegypti Liverpool strain and Aedes trivittatus intrathoracically inoculated with saline alone, inoculated with Dirofilaria immitis microfilariae (mff), or from uninoculated mosquitoes was compared using a radiometric tyrosine hydroxylation assay. Hemocyte MPO activity in mff-inoculated (= immune-activated) mosquitoes was significantly increased at 24 hr postinoculation (PI) in A. aegypti and at 6, 12, and 24 hr PI in A. trivittatus as compared with saline-inoculated controls. Baseline and immune-activated levels of hemocyte MPO activity in A. trivittatus were significantly higher compared with those seen in A. aegypti. Baseline hemocyte population levels were similar in both species, but immune activation did not elicit increases in total hemocyte populations in A. trivittatus as has been demonstrated for A. aegypti. Likewise, immune activation by the inoculation of mff did not significantly alter plasma MPO activity in A. trivittatus as compared with uninoculated or saline-inoculated mosquitoes. Plasma MPO activity in A. aegypti, however, appears to constitute a major component of the immune response. The importance of phenol oxidase(s) in the immune response of mosquitoes against mff and the relationship of observed differences in MPO activity to differences in immunological capability between A. aegypti and A. trivittatus are assessed. 相似文献
97.
D A Brenner J M Didier F Frasier S R Christensen G A Evans H A Dailey 《American journal of human genetics》1992,50(6):1203-1210
Protoporphyria is generally an autosomal dominant disease that is characterized clinically by photosensitivity and hepatobiliary disease and that is characterized biochemically by elevated protoporphyrin levels. The enzymatic activity of ferrochelatase, which catalyzes the last step in the heme biosynthetic pathway, is deficient in all tissues of patients with protoporphyria. In this study, sequencing of ferrochelatase cDNAs from a patient with protoporphyria revealed a single point mutation in the cDNAs resulting in the conversion of a Phe(TTC) to a Ser(TCC) in the carboxy-terminal end of the protein, F417S. Further, the human ferrochelatase gene was mapped to chromosome 18q21.3 by chromosomal in situ suppression hybridization. Finally, expression of recombinant ferrochelatase in Escherichia coli demonstrated a marked deficiency in activity of the mutant ferrochelatase protein and of mouse-human mutant ferrochelatase chimeric proteins. Therefore, a point mutation in the coding region of the ferrochelatase gene is the genetic defect in some patients with protoporphyria. 相似文献
98.
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency. 下载免费PDF全文
A L Jrgensen J Philip W H Raskind M Matsushita B Christensen V Dreyer A G Motulsky 《American journal of human genetics》1992,51(2):291-298
Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived from their deuteranomalous father. On anomaloscopy, one of the twins was phenotypically deuteranomalous while the other had normal color vision. The color vision-defective twin had two sons with normal color vision and one deuteranomalous son. X-inactivation analysis was done with the highly informative probe M27 beta. This probe detects a locus (DXS255) which contains a VNTR and which is somewhat differentially methylated on the active and inactive X chromosomes. In skin cells of the color vision-defective twin, almost all paternal X chromosomes with the abnormal color-vision genes were active, thereby explaining her color-vision defect. In contrast, a different pattern was observed in skin cells from the woman with normal color vision; her maternal X chromosome was mostly active. However, in blood lymphocytes, both twins showed identical patterns with mixtures of inactivated maternal and paternal X chromosomes. Deuteranomaly in one of the twins is explained by extremely skewed X inactivation, as shown in skin cells. Failure to find this skewed pattern in blood cells is explained by the sharing of fetal circulation and exchange of hematopoietic precursor cells between twins. These data give evidence for X inactivation of the color-vision locus and add another MZ twin pair with markedly different X-inactivation patterns for X-linked traits. 相似文献
99.
Site-directed mutagenesis of beta-lactamase I. Single and double mutants of Glu-166 and Lys-73. 总被引:1,自引:0,他引:1
Two single mutants and the corresponding double mutant of beta-lactamase I from Bacillus cereus 569/H were constructed and their kinetics investigated. The mutants have Lys-73 replaced by arginine (K73R), or Glu-166 replaced by aspartic acid (E166D), or both (K73R + E166D). All four rate constants in the acyl-enzyme mechanism were determined for the E166D mutant by the methods described by Christensen, Martin & Waley [(1990) Biochem. J. 266, 853-861]. Both the rate constants for acylation and deacylation for the hydrolysis of benzylpenicillin were decreased about 2000-fold in this mutant. In the K73R mutant, and in the double mutant, the rate constants for acylation were decreased about 100-fold and 10,000-fold respectively. All three mutants also had lowered values for the rate constants for the formation and dissociation of the non-covalent enzyme-substrate complex. The specificities of the mutants did not differ greatly from those of wild-type beta-lactamase, but the hydrolysis of cephalosporin C by the K73R mutant gave 'burst' kinetics. 相似文献
100.
The reactions of cadmium halides with the 15-membered macrocyclic crown ethers, 15-crown-5 and benzo-15-crown-5, have been carried out and six new complexes have been isolated and structurally characterized. Metal to ligand stoichiometries of 1:1, 2:1, 3:1 and 3:2 have been observed with a variety of different formulations. Examples of charge separated ion pairs ([(NH4)(benzo-15-crown-5)2]2[Cd2I6]), halogen bridged monomers, dimers or polymers ([Cd(15-crown-5)(OHMe)(μ-Br)CdBr3], [Cd(15-crown-5)(μ-Br)2CdBr(μ-Br)]2(isolated from the same reaction mixture) and [(CdCl2)2CdCl2(15-crown-5)]n), and hydrogen bonded finite chains or polymers ([(Cd(OH2)2(15-crown-5)][CdI3(OH2)]2·2(15-crown-5)·2CH3CN and [CdI2(OH2)2(THF)]·benzo-15-crown-5) have been isolated. Three different types of 15-crown-5 coordination modes have been observed in these complexes. In-cavity coordination resulting in pentagonal bipyramidal geometries about Cd2+ was observed in [(CdCl2)2CdCl2(15-crown-5)]n, [Cd(15-crown-5)(OHMe)(μ-Br)CdBr3], and [Cd(OH2)2(15-crown-5)][CdI3(OH2)]2·2(15-crown-5)·2CH3CN, [Cd(15-crown-5)(μ-Br)2CdBr(μ-Br)]2 displays out-of-cavity coordination with one etheric donor distorted into an axial position of a distorted pentagonal bipyramid. The third coordination mode is secondary sphere coordination via hydrogen bonding which is observed for [Cd(OH2)2(15-crown-5)][CdI3(OH2)]2·2(15-crown-5)·2CH3CN. The good fit of Cd2+ within the cavity of 15-crown-5 results in shorter bonding contacts and a more narrow distribution in Cd---O values (2.273(7)-2.344(6) Å) than observed for cadmium halide complexes of 18-crown-6 (Cd---O = 2.69(1)–2.81(1) Å). 相似文献