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981.
982.
The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms 总被引:4,自引:1,他引:4
Haase Volker H.; Trofatter James A.; MacCollin Mla; Tarttelln Emma; Gusella James F.; Ramesh Vijaya 《Human molecular genetics》1994,3(3):407-411
The recently isolated gene for neuroflbromatosls type 2 (NF2)encodes a 595 amlno acid protein, named merlin, which Is relatedto the cytoskeleton-assoclated proteins moesln, ezrin and radlxin.To Identify evolutionarily conserved regions and to providesequence Information necessary for the establishment of a mousemodel for NF2, we have determined the cDNA sequence of the mouseNF2 tumor suppressor gene, and mapped It In the mouse genome.Mouse merlin is a 596 amino acid protein, 98% identical to humanmerlin, but one amlno acid longer due to the Insertion of aproline residue near the C-terminus. Of the nine amlno aciddifferences between mouse and humans, seven occur in the C-termlnal20% of the protein, far from the protein 4. 1 domain that definesthis family. Two of the NF2 cDNA clones reveal evidence of alternativesplicing events that alter the predicted merlin product, oneremoving a 45 amlno acid segment from the middle section ofthe protein and the other changing the C-terminus. The existenceof several different forms of merlin potentially with differentprimary roles will complicate the Identification of the precisefunction that must be disrupted to cause the NF2-assoclatedtumors. The mouse NF2 homologue maps to Chr 11, in a regionhomologous to human Chr 22, but devoid of any mouse mutationswhich could be models of the human disorder. 相似文献
983.
Steuart K. Shapira Kent L. Anderson Avi Orr-Urtregar Willaim J. Craigen James R. Lupski Lisa G. Shaffer 《American journal of medical genetics. Part A》1994,52(1):44-50
We report on 2 unrelated patients who had chromosome analysis performed because of psychomotor delay, Failure to thrive, and minor anomalies. Each patient had a novel proximal 14q deletion (q11.2 to q21.1 in patient 737 and q12 to q22 in patient 777). Polymorphic (C-A)n microsatellite markers distributed along the length of chromosome 14q were examined in both patients and their parents in order to determine which marker loci were deleted. The deletion in patient 737 was found to be paternal in origin, based on the analysis of 2 marker loci (D14S54 and D14S70), thus assigning these loci to the deleted interval q11.2 q21.1. Furthermore, 3 loci were not deleted (TCRD, D14S50, and D14S80), suggesting that they are within or proximal to 14q11.2. In the other family (patient 777), none of the markers were fully informative, but the deleted chromosome was determined to be paternally derived based on cytogenetic heteromorphisms. Despite having overlapping proximal 14q deletions, these 2 patients shared few phenotypic similarities except for failure to thrive, micrognathia, and hypoplasia of the corpus callosum. Therefore, a distinct proximal 14q deletion syndrome is not yet apparent. However, the molecular analyses facilitated the localization of several 14q DNA markers to the deletion regions in these 2 patients, while excluding other markers from each deletion. © 1994 Wiley-Liss, Inc. 相似文献
984.
Paul A. Obrist Richard A. Galosy James E. Lawler Claude J. Gaebelein James L. Howard Emily M. Shanks 《Psychophysiology》1975,12(4):445-455
The relationships between heart rate (HR) and several parameters of somatic activity were evaluated in human subjects when shuck avoidance was made contingent on either increases or decreases in HR. In order to depict any influence of the contingency specific 10 HR, somatic activity was controlled to varying degrees by instructions and the use of non-contingent control groups. When increases in HR were reinforced, the contingency we found to influence somatic activity but an effect specific to HR was also observed. When decreases in HR were reinforced, there was no evidence that HR were influenced independently of somatic activity. The result are discussed with respect to several current issues. 相似文献
985.
Antibody to Mycoplasma pneumoniae in Nasal Secretions and Sputa of Experimentally Infected Human Volunteers 总被引:8,自引:7,他引:8 下载免费PDF全文
Helmut Brunner Harry B. Greenberg Walter D. James Robert L. Horswood Robert B. Couch Robert M. Chanock 《Infection and immunity》1973,8(4):612-620
After experimental infection with Mycoplasma pneumoniae, 42% of 67 volunteers developed a threefold or greater rise in antibody in nasal secretions as measured by radioimmunoprecipitation. Development of an antibody increase in sputum was detected more often, i.e., in 73% of the volunteers. Each of the antibody increases involved immunoglobulin (Ig) A. Twelve rises in IgG antibody were detected in the specimens which exhibited a rise in IgA antibody. In almost every instance the rise in IgA antibody exceeded that seen with IgG antibody. Analysis of the response to experimental challenge with M. pneumoniae of volunteers with different levels of preexisting respiratory tract IgA antibody suggested that this secretory antibody was related to host resistance to M. pneumoniae disease. Further, respiratory tract IgA antibody appeared to be more directly related to host resistance than was antibody in serum. 相似文献
986.
The light-evoked release of acetylcholine (ACh) from the rabbit retina was taken as a measure of cholinergic amacrine cell activity. The glutamate analogue DL-(+/-)-2-amino-4-phosphonobutyric acid (APB) prevented the light-evoked release of ACh and also selectively abolished the ON-responses of ganglion cells and the ERG b-wave. It is concluded that the input to cholinergic amacrine cells involves mainly the depolarizing bipolar cells, which subserve ON-channels. L-(+)-stereoisomer of APB was 15 times more potent than the D-(-)-isomer in suppressing ACh release and the b-wave, suggesting that the mechanism of action of APB does not involve antagonism of excitatory amino acids. 相似文献
987.
Long Jin Jiangyue Song William F. Chandler Barry G. England James B. Smart Ariel Barkan Ricardo V. Lloyd 《Endocrine pathology》1990,1(1):25-36
The effects of the hypothalamic hormones, thyrotropin-releasing hormone (TRH), and somatostatin (SRIH), and of phorbol 12-myristate
13-acetate (PMA) on PRL and GH secretion and messenger RNA (mRNA) levels were analyzed in 10 GH and/or PRL producing adenomas
after culturing the tumor cells in the presence of these secretagogues for 7 days. The expression of chromogranin A and B
mRNAs was also examined. All four of the clinically diagnosed GH adenomas expressed or secreted both GH and PRL while four
of six clinically diagnosed prolactinomas produced or secreted both PRL and GH. Prolactinomas had less than 10% of tumor cells
expressing chromogranin A mRNA while more than 40% of the adenoma cells expressed chromogranin B mRNA. TRH stimulated PRL
secretion and increased PRL mRNA levels while SRIH decreased GH secretion and mRNA expression in some cases. Unexpectedly,
PMA stimulated PRL mRNA levels four- to sevenfold above control levels in two adenomas and generally stimulated chromogranin
A and B mRNA expression but not GH mRNA, as determined by Northern hybridization and in situ hybridization analyses.
These results indicate that cultured prolactinoma cells express significantly more chromogranin B mRNA than chromogranin A
mRNA, and that PMA increases PRL mRNA expression in some prolactinomas, although the effect of PMA on various adenomas reflects
the heterogeneity of these tumors with respect to protein kinase C stimulation. 相似文献
988.
989.
The Mikulicz Cell in Rhinoscleroma: Light, Fluorescent and Electron Microscopic Studies 总被引:2,自引:0,他引:2 下载免费PDF全文
Ernesto O. Hoffmann Leland D. Loose James C. Harkin 《The American journal of pathology》1973,73(1):47-58
The stages in the development of the Mikulicz cell in human rhinoscleroma were studied in biopsy specimens obtained from 10 patients using light, immunofluorescent and electron microscopy. The Mikulicz cell was identified morphologically as a macrophage, not a plasma cell. Acutely inflamed areas of rhinoscleroma presented abundant bacteria with a slime layer. The microorganism was infrequent and the mucopolysaccharide was scanty in rhinoscleromal tissue, where plasma cells predominated, and in cicatricial fibrous tissue. In the granulomatous stage of rhinoscleroma, the mucopolysaccharide was found within the Mikulicz cells. The vacuoles observed in the Mikulicz cells were considered to be phagosomes containing, principally, bacterial mucopolysaccharide and few bacteria and, to a lesser extent, swollen mitochondria. It was concluded that the slime layer of Klebsiella rhinoscleromatis plays an important role in the pathogenesis of the disease. It is postulated that this material is a nondigestible mucopolysaccharide that resides in the phagosomes of macrophages, increases the osmotic pressure and forms multiple hydropic vacuoles that rupture not only the phagosomes but also the cells, resulting in the liberation of the mucopolysaccharide. This would initiate a cycle that would prolong the disease in the absence of the bacteria. 相似文献
990.
A 0.31-kilobase fragment of SV40 DNA containing the early promoter of this virus was isolated. The pX1 plasmid containing the herpesvirus thymidine kinase gene (TK) was cleaved with BglII and SalI to remove the TK promoter. The Sv40 DNA fragment was mixed with the TK gene without its promoter and blunt-end ligated after treatment with S1 nuclease. The newly engineered plasmid was used for the transformation of TK-deficient LtA cells to TK+ phenotype. Blot hybridization experiments show that the plasmid is integrated into high-molecular-weight DNA in both of the transformed colonies that we have studied. Also the mRNA in these cells is a hybrid molecule containing both TK and SV40 sequences. 相似文献