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91.
Gerhard Neuhser Richard F. Daly Norma C. Magnelli Robert F. Barreras Robert M. Donaldson John M. Opitz 《Clinical genetics》1976,9(1):81-91
The familial occurrence of essential tremor combined with (congenital) nystagmus, duodenal ulceration and a narcolepsy-like sleep disturbance caused by an autosomal dominant gene with high penetrance and fairly uniform expressivity is reported in a family of Swedish-Finnish ancestry. Twelve of 17 affected family members had essential tremor which began between 30-40 years of age and which could be controlled temporarily by alcohol; this resulted in alcoholism in several affected individuals. The most severly affected persons showed cerebellar signs which may reflect a possible pathogenetic relationship of the syndrome to the genetic cerebellar atrophies. Nystagmus, observed in 12 of 17 affected family members (eight of whom were also affected with tremor) usually was congenital and accompanied by refractive errors. Duodenal ulcers occurred almost exclusively in individuals with the neurological syndrome, and preceded its onset in some cases. The ulcer disease therefore seems to be a component manifestation of the syndrome and is interpreted as a pleiotropic effect of the gene which also causes the nystagmus, tremor and sleep disturbance. 相似文献
92.
Detection of methicillin-resistant Staphylococcus aureus and simultaneous confirmation by automated nucleic acid extraction and real-time PCR 下载免费PDF全文
Grisold AJ Leitner E Mühlbauer G Marth E Kessler HH 《Journal of clinical microbiology》2002,40(7):2392-2397
A molecular assay for the simultaneous detection of a Staphylococcus aureus-specific gene and the mecA gene, responsible for the resistance to methicillin in staphylococci, was evaluated. The assay included an automated DNA extraction protocol conducted with a MagNA Pure instrument and real-time PCR conducted with a LightCycler instrument. The performance and robustness of the assay were evaluated for a suspension of methicillin-resistant S. aureus (MRSA) strain with a turbidity equivalent to a McFarland standard of 0.5, which was found to be the ideal working concentration. The specificity of the new molecular assay was tested with a panel of 30 gram-negative and gram-positive bacterial strains other than MRSA. No cross-reactivity was observed. In a clinical study, 109 isolates of MRSA were investigated. All clinical MRSA isolates gave positive results for the S. aureus-specific genomic target, and all but one were positive for the mecA gene. In conclusion, the new molecular assay was found to be quick, robust, and laborsaving, and it proved to be suitable for a routine molecular diagnostic laboratory. 相似文献
93.
Gyrgy Stuber Gerhard H. Leder Walter J. Storkus Michael T. Lotze Susanne Modrow Lszl Szkely Hans Wolf Eva Klein Klas Krre George Klein 《European journal of immunology》1994,24(3):765-768
Mutations of the p53 gene are the most frequently observed genetic changes in human cancers; often leading to an overexpression of the wild-type (wt) p53 protein. Demonstrable T cell reactivity against tumor cells overexpressing wt or mutant p53-derived peptides could support the application of such epitopes in cancer immunotherapies. As the binding of peptide to MHC class I molecules is a prerequisite for antigen-specific T cell recognition, we evaluated the ability of wt and mutant p53 peptides to bind to HLA-A2.1 using two independent flow cytometry-based assay systems, the T2 major histocompatibility complex (MHC) class I peptide stabilization assay (stabilization assay) and the peptide-induced MHC class I reconstitution assay (reconstitution assay). The twenty selected wt sequences each conformed to the previously reported HLA-A2.1 peptide binding motif. Seven of the wt p53 and 2/13 mutant p53 peptides derived from the previously chosen wt peptides bound to HLA-A2.1 in both the stabilization and the reconstitution assays. An additional six wt and six mutant p53 peptides, presumably exhibiting lower affinity for HLA-A2.1, were identified only in the reconstitution assay. Those p53 peptides binding HLA-A2.1 may provide useful immunogens for the generation of HLA-A2.1-restricted cytolytic T lymphocytes in vitro and in vivo. 相似文献
94.
Gerhard Opelz Masahiro Kiuchi Mitsuo Takasugi 《International journal of immunogenetics》1975,2(1):1-7
Loss of antigenicity in the mixed lymphocyte culture (MLC) reaction of lymphocytes precultured at 22°C for 7–10 days was accompanied by a decrease in bone-marrow-derived lymphocytes (B cells) from 22 ± 1% to 13 ± 1%, and an increase in thymus-derived lymphocytes (T cells) from 65 ± 2% to 83 ± 1% (P < 0.001). Depletion of B cells from a fresh lymphocyte suspension by either antihuman immunoglobulin-coated column fractionation or by sheep red blood cell (SRBC) rosette formation resulted in a significant reduction of the cell's ability to stimulate in MLC (P < 0.001). Coating of lymphocytes with rabbit antihuman brain serum abrogated their ability to respond but not the ability to stimulate in MLC. 相似文献
95.
The synthesis of poly(2,5-dialkoxy-p-phenylene)s (PPP) by palladium-catalyzed polycondensation of 2,5-dialkoxy-4-bromophenylboronic acids is described. Number-average degrees of polymerization of ca. 30 have been reached at best. The characterization of the polymers by NMR, IR, UV-VIS and fluorescence spectra, data on the bulk structure obtained by X-ray methods, melting behavior and thermal stability are reported. PPP's with long alkoxy side chains exhibit a layered phase structure, those with short or branched alkoxy side chains, cylindrical packing. Poly(2,5-dibutoxy-p-phenylene) was prepared with chain lengths 7 ≤ Pn ≤ 30. The polymer with Pn of 30 shows thermal transitions in the bulk phase at 182°C and 227°C. It forms an anisotropic melt above 227°C which only starts decomposing if heated above 300°C. The polymers of shorter chain length show isotropic melts, with the melting point strongly depending on chain length. 相似文献
96.
97.
Determination of Dissolved Oxygen in Heterogenous Systems Particularly in Emulsions and Oily Liquids
Foiβner Karl-Heinz Leonhardt Andreas Wegner Gerhard Heinz Bauer Kurt 《Pharmaceutical research》1985,2(1):44-46
The content of dissolved oxygen was determined by four independent methods in a series of non-aqueous or heterogenous systems. The Lex-O2-Content Analyzer represents a fast and simple apparatus that employs a coulometric oxygen assay with Hersch cell detection. A comparison of the results with different methods demonstrates the reliability of the Lex-O2 in the determination of oxygen dissolved in heterogeneous or non-aqueous systems. Therefore, this apparatus can be recommended for the measurement of oxygen in oxygenator or perfusion fluids, as well as in blood substitutes or other oxygen transporting systems. 相似文献
98.
Early biochemical and morphological changes of the rat adrenal medulla induced by xylitol 总被引:1,自引:0,他引:1
Long-term administration of high doses of xylitol and other polyols in rats has been associated with an increase in adrenal medullary hyperplasia and neoplasia. In order to exclude age-related factors and to differentiate between unspecific stress reactions and direct effects of the compound administered, a model was developed for quantifying early adrenomedullary responses. Male SD rats were fed xylitol (10% or 20% in the diet) for 2 and 8 weeks, and early biochemical changes were correlated with a stereological analysis of the adrenal medulla. At first, the in vivo rate of catecholamine (CA) biosynthesis was slightly decreased (at 2 weeks). This was followed by an increase in dopamine--hydroxylase (DBH) activity (at 8 weeks). By that time, the total chromaffin cell volume had increased and the number of chromaffin cells per reference volume had decreased in a dose-dependent way. The total number of chromaffin cells per adrenal gland showed a distinct tendency towards an increase. Adrenal epinephrine and norepinephrine contents were not altered, and both tyrosine hydroxylase and phenylethanolamine-N-methyltransferase activities remained unchanged. These data suggest that continued xylitol administration evoked an inhibitory effect on CA synthesis that, together with stimulation of the adrenal medulla brought about by the compound, resulted in compensatory medullary hypertrophy and hyperplasia. 相似文献
99.
K Richter W E Hempel W Gerhard K Vogelreuter C U Wagenknecht 《Zeitschrift für die gesamte innere Medizin und ihre Grenzgebiete》1986,41(15):413-418
With the help of an approx. 280 000 inhabitants check of x-ray-morphological suspects of a heart disease the laboratory parameters thymol turbidity test, zinc-sulphate turbidity test, total protein, serum protein electrophoresis and the enzymes "ASAT" and "ALAT" in longitudinal section and cross-section were examined in an intervention study during 5 years. All these parameters show standard values on the average, but compared to a healthy reference they showed significant differences, which relations to heart and vessel diseases could be deduced from. This referred especially to age-inverse behaviour of the transaminases only concerning male test persons. The examination of the longitudinal section confirmed exactly the results of the cross-section analysis. On the one hand it underlines the results got from the cross-section and in the second place it contributes to the efficient diagnostics by learning undone a repetition of these laboratory examinations during the period of 5 years with such a defined population. The relations of the particularities mentioned obviously refer to subclinical fields. Effects of therapy do not reflect in the laboratory findings. 相似文献
100.
Klaus Hager Uwe Machein Stephan Krieger Dieter Platt Gerhard Seefried Joachim Bauer 《Neurobiology of aging》1994,15(6):771-772
In the present study, interleukin-6(IL-6) and several acute phase proteins were measured in healthy participants (23–87 years of age). A linear correlation between IL-6 and age was established with an increase of 0.016 pg/ml(00.004) per year of life. Whereas CRP remained below 0.5 mg/dl in all participants, an increase with age for fibrinogen and an inverse relation for albumin as well as transferrin were obtained. However, the increase of IL-6 did not correlate with any of these changes. IL-6 associated diseases may therefore occur more often with advancing age, but in healthy participants IL-6 does not explain the changing plasma protein pattern resembling that of an acute phase reaction. 相似文献