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11.
12.
Studies on DNA markers (D4S10 and D4S43/S127) genetically linked to Huntington's disease in Japanese families 总被引:1,自引:0,他引:1
Ichiro Kanazawa Ikuko Kondo Joh-E Ikeda Teruaki Ikeda Yuichior Shizu Mitsuo Yoshida Hirotaro Narabayashi Shigetoshi Kuroda Hisayuki Tsunoda Eiji Mizuta Yoko Okuno Kiyotaka Sugawara Miho Murata Mafuyu Takahashi James F. Gusella 《Human genetics》1990,85(3):257-260
Summary This is the first full report on the genetic linkage between Japanese Huntington's disease and the DNA markers D4S10 and D4S43/S127. With use of the HindIII, BglI, and EcoRI polymorphisms detected at D4S10, and the combination of all these polymorphisms to give composite haplotypes, nine Japanese Huntington's disease families were found to be informative. Three recombinants for D4S10 were detected in these families, giving a maximum lod score of 1.662 at a of 0.10. Similarly, when we used the MspI and PvuII polymorphisms detected by D4S43/S127, five families gave informative results. No recombinant was detected in these families, giving a maximum lod score of 3.348 at a of 0.00. These results clearly support the view that the Japanese Huntington's disease gene may be identical with the Western gene, in spite of the lower prevalence rate in Japan. 相似文献
13.
Summary A 444leucine to proline mutation detected by a NciI polymorphism in the human glucocerebrosidase gene was studied to investigate the correlation of the three clinical phenotypes of Gaucher disease with this mutation in 11 Japanese patients with Gaucher disease (type I, 8 patients; type II, 1 patient; type III, 2 patients) and to determine the feasibility of the use of genomic probe DNA for carrier detection and prenatal diagnosis in 8 Japanese families with Gaucher disease and agreeable to family study (type I, 6 families; type III, 2 families). The homoallelic 444leucine to proline mutation was found only in patients with type I disease. Of the 8 type I patients, 5 had the homoallelic mutation and 2 had one mutant allele. One patient with type II disease did not have this mutant allele. Of the 2 type III patients, one had a single mutant allele whereas the other exhibited no mutation of this kind. These results suggest that the 444leucine to proline mutation is very common in the type I (non-neuronopathic form) disease and is not tightly associated only with neuronopathic types of Gaucher disease in Japanese patients. These findings seem to conflict with others showing that this mutation is partially responsible for the occurrence of neuronopathic Gaucher disease. Thus, the NciI polymorphism will not be useful for the diagnosis of subtypes of Gaucher disease. Carrier detection was feasible in three families with type I disease of the 8 families analyzed by the NciI polymorphism. 相似文献
14.
Shigeru Kumano Masashi Ihira Yasuo Maeda Misako Yamauchi Eiji Matsumoto Isao Matsuda 《Ecological Research》1990,5(2):221-235
Diatom assemblages of sediments obtained from three sites on Kushiro Moor were analyzed to investigate the Holocene sedimentary
history. The results showed that: 1) The Takkobu site was originally at the bottom of the paleo-Kushiro Bay, and after-wards
the paleo-Takkobu Lagoon developed, became sealed off, and changed to a freshwater lake. The succession to peat moor probably
began about 2000 yr B.P. at the Takkobu site. 2) The Tsurui site was originally at the bottom of the paleo-Kushiro Bay, then
changed to the paleo-Kushiro Lagoon and became peat moor as a result of the first Holocene regression, which finished about
3600 yr B.P. The site then returned to a brackish lake again, probably due to the second Holocene transgression between 3600
and 3000 yr B.P., thereafter passing through brackish lake and freshwater lake stages, and eventually becaming peat moor at
about 2000 yr B.P., 3) At the Chuo site, the second paleo-Kushiro Bay developed again as a result of the second Holocene transgression,
which finished about 3000 yr B.P. Thereafter, brackish or freshwater lakes, rivers, and then peat moor developed in the central
area of Kushiro Moor. 4) The second marine diatom zone (MD2 Zone), which indicates the second Holocene transgression, complete by about 3000 yr B.P., is detected only at the Chuo site
in the central area of Kushiro Moor. 相似文献
15.
Mitsuo Katano Hiroshi Yamamoto Tetsuro Mizoguchi Takeharu Hisatsugu 《Cancer immunology, immunotherapy : CII》1988,27(3):198-204
Summary A tumor growth inhibitory factor (TGIF) was induced in the culture supernatant from mixed culture of human peripheral blood mononuclear cells (PBMC) and a streptococcal preparation, OK-432, in vitro. The activity generated in the supernatant increased in a time-dependent fashion and first appeared 6 h after the initiation of culture, reaching its maximum around 48 h. The TGIF was cytostatic against seven of ten human tumor targets, but not against three murine tumor targets. Tumor cell growth was inhibited by a transient contact, i.e., 1 h, with TGIF. The TGIF was produced by lymphocytes but not by monocytes, because the activity was usually enhanced by elimination of plastic-adherent cells from the original PBMC fraction. The TGIF was relatively stable against heating at 56° C for 30 min, but the activity was totally destroyed after heating at 70° C for 5 min. The molecular weight of TGIF was estimated to be about 43×103 daltons by gel filtration. No interferon (IFN) activity was detected in the TGIF-positive fractions obtained by gel filtration, and the TGIF-positive fractions did not inhibit the growth of tumor necrosis factor (TNF)-sensitive mouse L929 cells. The TGIF activity was not significantly affected in neutralizing tests using specific antibodies against human IFN and TNF. The OK-432 was administered i.p. for management of cancer patients with malignant ascites. Ascites-derived mononuclear cells (ASMC) were obtained before and 3 to 5 days after OK-432 injection. The ASMC obtained after the injection produced TGIF in vitro in the absence of OK-432; the preinjection ASMC showed no such production. A positive correlation was found between TGIF-producing activity by ASMC and the effect of OK-432 injection on ascites volume. These results indicate that TGIF is induced in mononuclear cells by OK-432 not only in vitro but also in vivo and plays an important role in inhibition of tumor growth in cancer patients. 相似文献
16.
Demonstration by in situ hybridization of dissimilar IL-1 beta gene expression in human alveolar macrophages and blood monocytes in response to lipopolysaccharide 总被引:10,自引:0,他引:10
J F Bernaudin K Yamauchi M D Wewers M J Tocci V J Ferrans R G Crystal 《Journal of immunology (Baltimore, Md. : 1950)》1988,140(11):3822-3829
17.
This study examines the optimal seasonal timing of the life cycle for univoltine and bivoltine insects, assuming that resource
availability has a peak in the middle of a year and is symmetric around it. Results show that if the growth rate increases
in proporrion to the bodyweight, bivoltine life cannot be optimal. If the growth rate is a power function of the bodyweight
with a power smaller than unity, a symmetric bivoltine solution can be the optimal provided that the resource availability
has a plateau in the middle of the season. If the resource availability has a sharp peak, the optimal pattern is an asymmetric
bivoltine solution in which the larval periods of two generations differ in length. The bivoltine life cycle is more likely
to be superior to the univoltine one if: growth is fast, suitable growing season is long, biomass loss during nonlarval stages
is small, and egg size is small. 相似文献
18.
H Yamauchi N Kasuga 《Nihon seirigaku zasshi. Journal of the Physiological Society of Japan》1991,53(6):197-206
We studied the fiber types and contractile properties of the extensor digitorum longus (EDL) and soleus (SOL) muscles from young adult mice, rats and guinea pigs, and the correlation between these two parameters. Individual fibers in both muscles were classified as fast-twitch glycolytic (FG), fast-twitch oxidative glycolytic (FOG) or slow-twitch oxidative (SO) fibers according to Peter et al., and type II B, II A, or I fibers according to Brooke & Kaiser. Contractile properties were measured in situ at 37 degrees C. The isometric twitch contraction time (CT) and one-half relaxation time (1/2 RT) tended to be shortened in proportion to the area occupied by type II fibers, and type II B fibers. However, the differences between CT and fiber types were not always uniform among the three species. The CT of the rat EDL, in spite of its higher proportion of type II B fibers about 10% was the same as that of the guinea-pig EDL. The SOL of the mouse, composed of about 50% type I (SO) fibers, had a CT about as short as that of the EDL. In the case of the classification by Peter et al., the relationship between the percentage of subgroups of fast-twitch fibers and the CT or 1/2 RT, but not the resistance to fatigue, was not obvious. The resistance to fatigue tended to be enhanced in proportion to the area occupied by FOG in the EDL and by SO (type I) in the SOL. These results suggest that the contractile properties of individual fibers identified histochemically are distinct among animal species, producing interspecies differences in fiber types along with different contractile properties. However, it may be possible to compare the difference between fiber types and CT or 1/2 RT in the classification based on the pH lability of myosin ATPase, and also the difference between fiber types and resistance to fatigue in the classification based on the oxidative enzyme. 相似文献
19.
20.
A leptomycin B resistance gene of Schizosaccharomyces pombe encodes a protein similar to the mammalian P-glycoproteins 总被引:4,自引:0,他引:4
Kazunori Nishi Minoru Yoshida Marie Nishimura Mitsuo Nishikawa Makoto Nishiyama Sueharu Horinouchi Teruhiko Beppu 《Molecular microbiology》1992,6(6):761-769
Screening for leptomycin B (LMB)-resistant transformants in a gene library constructed in Schizosaccharomyces pombe with the chromosomal DNA of an LMB-resistant mutant of S. pombe and with multicopy plasmid pDB248' as the vector led to the isolation of a gene, named pmd1+, encoding a 1362-amino-acid protein. This protein showed great similarity in amino acid sequence to the mammalian P-glycoprotein encoded by the multidrug resistance gene, mdr, and the Saccharomyces cerevisiae a-factor transporter encoded by STE6. In addition, computer analyses predicted that the protein encoded by pmd1+ formed an intramolecular duplicated structure and each of the halves contained six transmembrane regions as well as two ATP-binding domains, as observed with the P-glycoproteins and the STE6 product. Consistent with this was that S. pombe cells containing the pmd1+ gene on a multicopy plasmid showed resistance not only to LMB but also to several cytotoxic agents. The pmd1 null mutants derived by gene disruption were viable and hypersensitive to these agents. All these data suggest that the pmd1+ gene encodes a protein that is a structural and functional counterpart of mammalian mdr proteins. 相似文献