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991.
Xp-duplications with and without sex reversal 总被引:5,自引:0,他引:5
Annette Baumstark Gotthold Barbi Mahmoud Djalali Claudia Geerkens Beate Mitulla Torsten Mattfeldt José Carlos Cabral de Almeida Fernando Regla Vargas Juan Clinton Llerena Jr Walther Vogel Walter Just 《Human genetics》1996,97(1):79-86
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY, der(22), t(X;22)(p11.3;p11)mat and unambiguous female genitalia. The living sister was developmentally retarded, and showed multiple dysmorphic features and an acrocallosal syndrome. The second case was a boy with a maternally inherited direct duplication of Xp21.3-pter with the breakpoint close to the DSS locus. He had multiple abnormalities and micropenis, but otherwise unambiguous male genitalia. We performed quantitative Southern blot analysis with probes from Xp22.13 to p21.2 to define the duplicated region. Clinical, cytogenetic, and molecular data from both patients were compared with those of previously reported related cases. A comparison of the extragenital symptoms revealed no differences between patients with or without sex reversal. In both cases, the symptoms were non-specific. Among 22 patients with a duplication in Xp, nine had unambiguous female genitalia and a well-documented duplication of the DSS region. Two patients with duplication of DSS showed ambiguous external genitalia. From these data, we conclude that induction of testicular tissue may start in these patients, but that the type of genitalia depends on the degree of subsequent degeneration by a gene in DSS. 相似文献
992.
Maria de Fatima Bonaldo Pierre Jelenc Long Su Lee Lawton M. -T. Wu Dorothy Warburton Marcelo Bento Soares 《Human genetics》1996,97(4):441-452
A study was conducted on the feasibility of isolating genes and pseudogenes that map to chromosome 13 by a hybridization-based approach using a 13-specific library and pools of repeat-free cDNA clones. Five pairs of cDNA and chromosome 13 genomic clones were identified and characterized. Partial or full-length sequence was derived from all cDNAs, and database searches were performed for putative gene identification. Partial sequence was also obtained from the chromosome 13 genomic clones for comparison with those of the hybridizing cDNAs. As a result of these analyses we identified three genes, a putative homologue of a porcine mRNA encoding an unidentified hepatic protein, a putative homologue of a yeast integral membrane protein, and a gene for a translationally controlled tumor protein, and two processed pseudogenes, ribosomal proteins L23a and S3a. The latter was formerly identified as the v-fos transformation effector gene, Fte-1, and recently cited as a possible candidate for the BRCA2 gene on chromosome 13. All genes and pseudogenes were localized to cytogenetic bands by in situ hybridization of metaphase chromosomes with probes derived from the chromosome 13 genomic clones. 相似文献
993.
Márcia Camargo-De-Morais Marta De Freitas Angela G. De Mattos Nádia Schröder Ana C. Zilles Carla S. F. Lisboa Nice Arteni Armando Barlem Rejane Schierholt Guilherme Zwetsch Carlos A. B. Souza Regina Pessoa-Pureur Carlos A. Netto 《Neurochemical research》1996,21(5):595-602
Neurofilaments subunits (NF-H, NF-M, NF-L) and glial fibrillary acidic protein (GFAP) were investigated in the hippocampus
of rats after distinct periods of reperfusion (1 to 15 days) following 20 min of transient global forebrain ischemia in the
rat. In vitro [14Ca]leucine incorporation was not altered until 48 h after the ischemic insult, however concentration of intermediate filament
subunits significantly decreased in this period. Three days after the insult, leucine incorporation significantly increased
while the concentration NF-H, NF-M, and NF-L were still diminished after 15 days of reperfusion. In vitro incorporation of32P into NF-M and NF-L suffered immediately after ischemia, but returned to control values after two days of reperfusion. GFAP
levels decreased immediately after ischemia but quickly recovered and significantly peaked from 7 to 10 days after the insult.
These results suggest that transient ischemia followed by reperfusion causes proteolysis of intermediate filaments in the
hippocampus, and that proteolysis could be facilitated by diminished phosphorylation levels of NF-M and NF-L. 相似文献
994.
The size relationship between the crown area of the lower canines (Cs), third (P3s) and fourth premolars (P4s), and first
molars (M1s) in hominids is examined by means of the regression analysis. The lower P3 seem to be under the influence of those
factors that control both the size of the anterior and posterior teeth, and the P4:P3 size ratio is related to the relative
size of the anterior and posterior dentitions. So, the P4>P3 sequence is associated with the megadontia and hipermegadontia
of the posterior teeth, whereas the expansion of the anterior teeth produces the P3>P4 sequence. We consider the P4:P3 size
ratio as an excellent indicator of the taxonomic and philogenetic status of fossil hominids. 相似文献
995.
996.
G. J. Grobben M. R. Smith J. Sikkema J. A. M. de Bont 《Applied microbiology and biotechnology》1996,46(3):279-284
The effect of fructose and glucose on the growth, production of exopolysaccharides and the activities of enzymes involved
in the synthesis of sugar nucleotides in Lactobacillus delbrueckii subsp. bulgaricus grown in continuous culture was investigated. When grown on fructose, the strain produced 25 mg l-1 exopolysaccharide composed of glucose and galactose in the ratio 1:2.4. When the carbohydrate source was switched to a mixture
of fructose and glucose, the exopolysaccharide production increased to 80 mg l-1, while the sugar composition of the exopolysaccharide changed to glucose, galactose and rhamnose in a ratio of 1:7.0:0.8.
A switch to glucose as the sole carbohydrate source had no further effect. Analysis of the enzymes involved in the synthesis
of sugar nucleotides indicates that in cell-free extracts of glucose-grown cells the activity of UDP-glucose pyrophosphorylase
was higher than that in cell-free extracts of fructose-grown cells. The activities of dTDP-glucose pyrophosphorylase and the
rhamnose synthetic enzyme system were very low in glucose-grown cultures but could not be detected in fructose-grown cultures.
Cells grown on a mixture of fructose and glucose showed similar enzyme activities as cells grown on glucose. Analysis of the
intracellular level of sugar nucleotides in glucose-grown cultures of L. delbrueckii subsp. bulgaricus showed the presence of UDP-glucose and UDP-galactose in a ratio of 3.3:1, respectively, a similar ratio and slightly lower
concentrations were found in fructose-grown cultures. The lower production of exopolysaccharides in cultures grown on fructose
may be caused by the more complex pathway involved in the synthesis of sugar nucleotides. The absence of activities of enzymes
leading to the synthesis of rhamnose nucleotides in fructose-grown cultures appeared to result in the absence of rhamnose
monomer in the exopolysaccharides produced on fructose.
Received: 1 February 1996/Received revision: 31 May 1996/Accepted: 2 June 1996 相似文献
997.
V. Kumar J. L. de la Fuente A. L. Leitão P. Liras J. F. Martin 《Applied microbiology and biotechnology》1996,45(5):621-628
The bla gene of the cephamycin cluster of Nocardia lactamdurans has been subcloned in the shuttle plasmids pULVK2 and pULVK2A and amplified in N. lactamdurans LC411. The transformants showed two- to threefold higher β-lactamase activity. Formation of β-lactamase preceded the onset
of cephamycin biosynthesis. The β-lactamase of N. lactamdurans inactivated penicillins and, to a lesser extent, cephalosporin C but did not hydrolyse cephamycin C. This β-lactamase was
highly sensitive to clavulanic acid (50% inhibition was observed at 0.48 μg/ml clavulanic acid). The N. lactamdurans bla gene was disrupted in vivo by inertion of the kanamycin-resistance gene. Three bla-disrupted mutants, BD4, BD8 and BD12, were selected that lacked β-lactamase activity. Overexpresion of the bla gene resulted in N. lactamdurans transformants that were resistant to penicillin whereas mutants in which the bla gene was disrupted were supersensitive to this antibiotic. The three N. lactamdurans mutants with the bla gene disrupted showed a significant increase of cephamycin biosynthesis in solid medium, whereas transformants with the amplified
bla gene produced reduced levels of cephamycin. The cephamycin-overproducing Merck strain N. lactamdurans MA4213 showed no detectable levels of β-lactamase activity. The β-lactamase plays a negative role in cephamycin biosynthesis
in solid medium, but not in liquid medium.
Received: 26 July 1995/Received revision: 18 December 1995/Accepted: 8 January 1996 相似文献
998.
We describe the application of lamin immunocytochemistry (ICC) and single- or double-target fluorescence in situ hybridization (FISH) on 4 microm thick frozen tissue sections as a method to facilitate scoring of aberrant chromosome copy numbers in colonic tumors. Analysis of FISH signals in colon tissue sections is often hampered by overlap and truncation of epithelial nuclei, due to the density of the epithelial cells. Furthermore, on the basis of nuclear staining it is often difficult to determine whether or not nuclei are overlapping, or adjoining. Therefore, reliable evaluation of (F)ISH signals to screen for genomic changes was until now mainly restricted to isolated nuclei obtained from relatively thick tissue sections. In this study the applicability of lamin ICC, to stain the nuclear periphery and to distinguish individual nuclei, combined with the FISH procedure is explored to solve this problem for colon epithelium. For ICC we applied the alkaline phosphatase (APase)-Fast Red detection method, since the fluorescent precipitate of this reaction resists extensive proteolytic digestion as needed for efficient FISH on tissue sections. Chromosome copy numbers could easily be determined in 4 microm thick frozen tissue sections by combining lamin ICC and FISH. The ratio of the copy numbers of the chromosomes 7 and 17 could be determined in frozen tissue sections after combined lamin ICC and double-target FISH. It is concluded that the combination of lamin ICC and FISH improves chromosome copy number analysis and can be used to investigate genomic changes in different tumor compartments in thin frozen tissue sections. 相似文献
999.
D. de Beer V. O’Flaharty J. Thaveesri P. Lens W. Verstraete D. de Beer 《Applied microbiology and biotechnology》1996,46(2):197-201
Extracellular polysaccharides (EPS) were quantified in dense granules and loose flocs by chemical analysis of the uronic
acid content. Their distribution within the aggregates was determined by microscopic staining. Granules contained a higher
amount of EPS (1–1.6 mg/g volatile suspended solids, VSS) than flocs (0.3 mg/g VSS). In granules approximately 50% of the
total amount of EPS was present in a 40-μm-thick zone on the surface. The remainder was dispersed in the rest of the aggregate.
In flocs the highest concentration was present in the centre and the EPS layer on the surface was not found. Tests showed
that flocculent sludge was very sensitive to flotation, while the studied granules did not float. The lower susceptibility
to flotation of granules as compared to flocs was attributed to the presence of the hydrophilic EPS coating that prevents
attachment of gas bubbles.
Received: 21 November 1995/Received last revision: 15 April 1996/Accepted: 22 April 1996 相似文献
1000.
Associations between different agonistic and affiliative behavioural patterns of female domestic cats (Felis silvestris catus) were studied. In three groups of intact cats living in confinement frequencies of fourteen agonistic and affiliative behavioural
patterns were recorded. The technique of factor analysis (Principal Components Analysis followed by varimax rotation on a
dyads X behavioural patterns matrix) was used to detect clusters in these behavioural patterns. Five factors (or types of
interindividual relationships) were extracted per group. They accounted collectively for at least 77% of the total variance
present in the data. Although differences existed between groups with respect to behavioural patterns included in each factor,
four clusters of behaviours could be discriminated: (I) social rubbing, lordosis and rolling in front of partner (sexual behaviour),
(II) allogrooming, social sniffing, nosing, sniffing rear and treading (inspection-affiliative behaviour), (III) offensive
behaviour and staring, and (IV) defensive behaviour and staring. The role of these clusters in group living is discussed. 相似文献