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1.
J. H. D. Bassett A. A. J. Pannett S. A. Forbes R. V. Thakker M. McCarthy A. P. Read B. T. Teh C. Larsson S. Kytölä J. Leisti P. Salmela G. Weber S. Giraud C. X. Zhang A. Calender J. W. M. Höppener H. K. Ploos van Amstel C. J. M. Lips K. Kas W. J. M. Van de Ven P. Gaudray 《Human genetics》1997,100(5-6):657-665
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by tumours of the parathyroids,
pancreas and anterior pituitary. The MEN1 gene has been localised to a 2-Mb region of chromosome 11q13 by meiotic mapping
studies in MEN1 families. Such studies may have a limited resolution of approximately 1 cM (i.e. 1 Mb) and we have therefore
investigated 96 MEN1 families (40 British, 17 French, 12 Finnish, 7 Swedish, 7 Dutch, 7 North American, 2 Australian, 1 New
Zealand, 1 German, 1 Spanish and 1 Danish) for linkage disequilibrium, in order to facilitate a finer mapping resolution.
We have utilised five microsatellite DNA sequence polymorphisms from the candidate region and have accurately determined their
allele sizes, which ranged from 161 bp to 272 bp. The heterozygosity and number of alleles (given in brackets), respectively,
at the loci were: D11S1883 (76%, 11), D11S457 (55%, 5), PYGM (94%, 18), D11S1783 (10%, 4) and D11S449 (87%, 16). Allelic association
was assessed by Chi-square 2 ×n contingency tables, by Fisher exact 2 ×n contingency tables and by a likelihood-based approach. The results of haplotype analysis revealed 91 different affected haplotypes
in the 96 families, an identical affected haplotype being observed in no more than two families. These results indicate the
absence of an ancestral affected haplotype. Significant linkage disequilibrium (P < 0.005) could be established amongst the microsatellite loci but not between the loci and MEN1 in either the total population
or in any of the geographical sub-populations. The absence of linkage disequilibrium between MEN1 and the polymorphic loci
is probably the result of the occurrence of multiple different disease-causing mutations in MEN1.
Received: 1 April 1997 / Accepted: 25 June 1997 相似文献
2.
Ivania Pereira Stephanie Weber Stephan Holzer Georg Fischer Clemens Vass Hemma Resch 《PloS one》2015,10(3)
This work intends to assess circumpapillary retinal vessel density (RVD) at a 3.46 mm diameter circle and correlate it with circumpapillary retinal nerve fiber layer (RNFL) thickness measured with Fourier-Domain Optical Coherence Tomography. Furthermore, it aims to evaluate the reduction of intersubject variability of RNFL when considering RVD as a source of information for RNFL distribution. For that, 106 healthy subjects underwent circumpapillary RNFL measurement. Using the scanning laser ophthalmoscope fundus image, thickness and position of retinal vessels were assessed and integrated in a 256-sector RVD profile. The relationship between local RVD value and local RNFL thickness was modeled by linear regression. RNFL was then compensated for RVD variation by regression formulas. A strong statistically significant intrasubject correlation was found for all subjects between RVD and RNFL profiles (mean R = 0.769). In the intersubject regression analysis, 247 of 256 RNFL sectors showed a statistically significant positive correlation with RVD (mean R = 0.423). RVD compensation of RNFL resulted in a relative reduction of up to 20% of the intersubject variance. In conclusion, RVD in a 3.46mm circle has a clinically relevant influence on the RNFL distribution. RVD may be used to develop more individualized normative values for RNFL measurement, which might improve early diagnosis of glaucoma. 相似文献
3.
The secreted form of the epidermal growth factor receptor. Characterization and crystallization of the receptor-ligand complex 总被引:6,自引:0,他引:6
A protein composed of the external domain of the epidermal growth factor (EGF) receptor is secreted by A431 human tumor cells. The soluble receptor protein was isolated in bulk quantities from cell culture supernatants. It has an intact ligand binding site, exists in a 93-kDa monomeric form, and does not undergo oligomerization upon ligand binding; thus the receptor dimerization reported for the EGF holoreceptor appears not to be a function of its external domain. The unique system of a physiological soluble receptor was utilized for a crystallization study. Crystals were obtained but only in the presence of the ligand. They contained (in equimolar amounts) receptor as well as EGF. The crystals belong to the tetragonal space group P4(3)2(1)2 or P4(1)2(1)2 with unit cell dimensions a = b = 118 A, c = 202 A. The packing density parameter was 3.55 A3/dalton, indicating the asymmetric unit to consist of one receptor-ligand complex. 相似文献
4.
I. Zimmer E. Usleber H. Klaffke R. Weber P. Majerus H. Otteneder M. Gareis R. Dietrich E. Märtlbauer 《Mycotoxin Research》2008,24(1):40-52
In order to calculate the dietary fumonisin intake of the German consumer, a large survey was carried out on a variety of
potentially contaminated products in the period between December 1998 and July 2001. A total of 1960 food samples comprising
all known relevant groups of products were analysed for fumonisins. Furthermore, 272 of these samples were also analysed for
hydrolysed fumonisins (HFB). For routine analysis enzyme immunoassay was used, confirmatory and control analyses were performed
using HPLC-FLD after precolumn derivatisation, or by LC-MS/MS. Daily intake of fumonisins was calculated by combining fumonisin
contamination data obtained in this study with available food consumption data for Germany. In a “mean case” scenario, median
fumonisin levels in foods and mean food intake values were used. To generate a “bad case” scenario, the 90th percentile of fumonisin levels in foods and mean food intake values were combined. The overall daily fumonisin intake by
the German consumer was 1.1 μg in the “mean case” scenario, and 21 μg in the “bad case” scenario. It was concluded that in
general there is no increased risk for the German consumer in aspects of exceeding the recommended tolerable daily intake
of fumonisins (2 μg/kg body weight). However, certain products (and certain brands of products) were repeatedly found to contain
elevated fumonisin levels, which in a “worst case” scenario (“high” food intake of maize-based products) could pose a potential
risk for the consumer, in particular concerning foods for infants and young children. High fumonisin levels were found in
infant foods in 1999, but contamination levels decreased strongly in the following years. HFBs (mostly HFB1) were frequently found in processed cereals such as corn flakes, but in relatively low concentrations. According to our findings,
the new European Union maximum levels for fumonisins are suitable to eliminate peak contamination levels of fumonisins in
foods, but would lead to a regular excess of the TDI for infants and young children if these maximum levels would indeed be
exhausted.
Financial support: This work was financially supported by the German Federal Ministry for Nutrition, Agriculture and Consumer
Protection, research grant 415-6080-1/60 (BMG alt). 相似文献
5.
A unified framework to model the potential and realized distributions of invasive species within the invaded range 下载免费PDF全文
Tarek Hattab Carol X. Garzón‐López Michael Ewald Sandra Skowronek Raf Aerts Hélène Horen Boris Brasseur Emilie Gallet‐Moron Fabien Spicher Guillaume Decocq Hannes Feilhauer Olivier Honnay Pieter Kempeneers Sebastian Schmidtlein Ben Somers Ruben Van De Kerchove Duccio Rocchini Jonathan Lenoir 《Diversity & distributions》2017,23(7):806-819
6.
7.
The switch from larval to adult globin gene expression in Xenopus laevis is mediated by erythroid cells from distinct compartments 总被引:1,自引:0,他引:1
The transition of hemoglobins during metamorphosis of Xenopus laevis involves replacement of the larval erythrocytes by adult ones, suggesting that the developmental control of this event depends upon the growth characteristics of the precursor cells. To identify the erythroid precursor cells and to investigate their developmental fate, we analyzed the distribution of stage-specific globin mRNAs by northern blotting in dorsal and ventral fragments of stage 32 embryos after in vitro culture as well as presumptive erythropoietic tissues of tadpoles during metamorphosis. The histological analysis shows that erythrocytes differentiate only in ventral fragments, suggesting that the ventral blood islands and most likely also the dorsolateral mesoderm are the primary sites of erythropoiesis. We also demonstrate that the first generations of erythrocytes, already express the predominating larval-specific alpha-globin mRNAs. The globin mRNA patterns obtained from presumptive erythropoietic tissues suggest an important role of circulating precursor cells in larval erythropoiesis, whereas the liver appears to be the main site of formation and maturation of the adult erythrocytes. Tentatively we propose that anuran erythropoiesis is dependent upon a self-perpetuating stem-cell line and that the larval and the adult erythrocytes are derived from successive generations of erythroid precursors, whose commitment may be imposed by the erythropoietic sites. 相似文献
8.
T Werfel G Sonntag M H Weber O G?tze 《Journal of immunology (Baltimore, Md. : 1950)》1991,147(11):3909-3914
Rapid increases in the membrane expression of C3 receptors on granulocytes and monocytes in response to the anaphylatoxin C5a have previously been described. In this study we demonstrate increases in the membrane expression of neutral endopeptidase (NEP, CD10, CALLA), aminopeptidase N (APN, CD13), tyrosine phosphatase (CD45/CD45Ro) and the Fc R Fc gamma-RIII (CD16) on granulocytes within minutes of treatment with human C5a. Monocytes responded to C5a with increases in CD13 and CD45/CD45Ro. These membrane modulations could be prevented by preincubating the C5a preparations with anti-C5a mAb C17/5 but not by pretreating the cells with cycloheximide. Increases of CD10, CD13, and CD11b but not CD11a (LFA-1) were also observed in leukocytes from patients undergoing hemodialysis with cuprophan membranes. The increase of CD16 on granulocytes was dependent on the presence of plasma during in vitro activation with C5a indicating that plasma contains inhibitors which prevent the previously described loss of Fc gamma-RIII upon stimulation of the cells. 相似文献
9.
10.
James L Weber 《Biology direct》2006,1(1):16-10
Applications of Genome Polymorphism Scans range from the relatively simple such as gender determination and confirmation of
biological relationships, to the relatively complex such as determination of autozygosity and propagation of genetic information
throughout pedigrees. Unlike nearly all other clinical DNA tests, the Scan is a universal test – it covers all people and
all genes. In balance, I argue that the Genome Polymorphism Scan is the most powerful, affordable clinical DNA test available
today. 相似文献