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91.
Zankl A Neumann L Ignatius J Nikkels P Schrander-Stumpel C Mortier G Omran H Wright M Hilbert K Bonafé L Spranger J Zabel B Superti-Furga A 《American journal of medical genetics. Part A》2005,(1):61-67
Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (PLSD-T) is a rare skeletal dysplasia characterized by platyspondyly, brachydactyly, and metaphyseal changes. Generally a perinatally lethal disease, a few long-term survivors have been reported. Recently, mutations in the carboxy-propeptide of type II collagen have been identified in two patients with PLSD-T, indicating that PLSD-T is a type 2 collagen-associated disorder. We studied eight additional cases of PLSD-T and found that all had mutations in the C-propeptide domain of COL2A1. The mutational spectrum includes missense, stop codon and frameshift mutations. All non-sense mutations were located in the last exon, where they would escape non-sense-mediated RNA-decay. We conclude that PLSD-T is caused by mutations in the C-propeptide domain of COL2A1, which lead to biosynthesis of an altered collagen chain (as opposed to a null allele). Similar mutations have recently been found to be the cause of spondyloperipheral dysplasia, a non-lethal dominant disorder whose clinical and radiographical features overlap those of the rare long-term survivors with PLSD-T. Thus, spondyloperipheral dysplasia and PLSD-T constitute a novel subfamily within the type II collagenopathies, associated with specific mutations in the C-propeptide domain and characterized by distinctive radiological features including metaphyseal changes and brachydactyly that set them apart from other type 2 collagenopathies associated with mutations in the triple-helical domain of COL2A1. The specific phenotype of C-propeptide mutations could result from a combination of diminished collagen fibril formation, toxic effects through the accumulation of unfolded collagen chains inside the chondrocytes, and alteration of a putative signaling function of the carboxy-propeptide of type 2 collagen. 相似文献
92.
93.
Bone marrow examination for the diagnosis of mycobacterial and fungal infections in the acquired immunodeficiency syndrome. 总被引:4,自引:0,他引:4
L Nichols B Florentine W Lewis F Sattler M U Rarick R K Brynes 《Archives of pathology & laboratory medicine》1991,115(11):1125-1132
In a series of 342 bone marrow examinations from 314 patients with human immunodeficiency virus infection, 70 examinations (20%) detected opportunistic mycobacterial or fungal infections. One hundred eleven of the 314 patients had such infections, and, hence, 63% (70/111) were detected by bone marrow examination. Special stains for microorganisms detected 16 (32%) of 50 Mycobacterium avium complex infections, 10 (22%) of 45 Mycobacterium tuberculosis infections, eight (73%) of 11 Histoplasma capsulatum infections, and five (83%) of six Cryptococcus neoformans infections. Bone marrow cultures detected 36 (72%) of the 50 M avium complex infections, 13 (29%) of the 45 M tuberculosis infections, and 63% of the fungal infections. Marrow examination revealed infection in only one of the 70 specimens (1%) collected to evaluate thrombocytopenia alone or hematologic malignancy, but in 69 (25%) of 274 with fever, neutropenia, anemia, or miscellaneous other indications for marrow examination. Granulomas were detected in 102 (30%) of the biopsy specimens, including 71 (64%) of those in cases with mycobacterial or fungal infection. The granulomas showed caseous necrosis in nine cases, all in patients with tuberculosis, and the 27 cases with tuberculosis-associated granulomas tended to show large, tightly cohesive granulomas. The presence of granulomas correlated with opportunistic infection in 82 (80%) of 102 cases. Without granulomas, special stains were positive in only eight (3%) of 240 specimens. These results suggest that (1) bone marrow granulomas are a common and valuable histologic clue to opportunistic infection; (2) without them, special stains may not be a cost-efficient way to diagnose such infection; and (3) bone marrow examination can be a useful method of diagnosing opportunistic mycobacterial and fungal infections in patients with fever, anemia or neutropenia, and underlying human immunodeficiency virus infection. 相似文献
94.
Detection of perforin and granzyme A mRNA in infiltrating cells during infection of mice with lymphocytic choriomeningitis virus 总被引:12,自引:0,他引:12
Christoph Müller David Kgi Toni Aebischer Bernhard Odermatt Werner Held Eckhard R. Podack Rolf M. Zinkernagel Hans Hengartner 《European journal of immunology》1989,19(7):1253-1259
The analysis of gene expression in cytotoxic T cells by in situ hybridization of serial liver and brain sections from mice infected with lymphocytic choriomeningitis virus (LCMV) and immunostaining with T cell marker- and virus-specific antibodies revealed a close histological association of infiltrating lymphocytes expressing the perforin and granzyme A genes with virally infected cells. Maximal frequency of perforin and granzyme A mRNA-containing cells on liver sections preceded by about 2 days maximal LCMV-specific cytotoxicity of the lymphoid liver infiltrating cells. These results are most consistent with an involvement of perforin and granzyme A in cell-mediated cytotoxicity in vivo. 相似文献
95.
96.
Thomas Herzinger Gerold Kick Dagmar Ludolph-Hauser Bernhard Przybilla 《Annals of allergy, asthma & immunology》2004,92(6):673-675
BACKGROUND: Despite its worldwide and abundant consumption, beer has rarely been found to cause anaphylaxis. Barley malt contained in lager beers seems to be an important elicitor. OBJECTIVE: To report the unusual case of severe anaphylaxis following the ingestion of wheat beer. METHODS: A 59-year-old man experienced angioedema, generalized urticaria, and unconsciousness after ingestion of wheat beer. He tolerated lager beer well. For diagnostic evaluation, skin prick tests, oral challenge tests, and identification of specific IgE antibodies were performed. RESULTS: Skin prick test results with standard series of common aeroallergens and food allergens were negative with the exception of a 1 + reaction to wheat flour. The results of skin prick tests with native materials were positive for 2 brands of wheat beer and wheat malt shred but negative for baker's yeast, hops, and a brand of lager beer. Oral challenges with wheat beer or wheat flour elicited urticaria. By CAP-FEIA, specific IgE antibodies to wheat and barley flour but not to hops or baker's yeast were found in serum. Immunoblot analysis revealed that patient's IgE was bound to a protein of approximately 35 kDa in wheat extract. CONCLUSIONS: This is the first report, to our knowledge, on anaphylaxis to beer attributable to wheat allergy. 相似文献
97.
Nicolle DM Pichon X Bouchot A Maillet I Erard F Akira S Ryffel B Quesniaux VF 《Laboratory investigation; a journal of technical methods and pathology》2004,84(10):1305-1321
To assess the role of Toll-like receptor (TLR) signalling in host response to mycobacterial infection, mice deficient in the TLR adaptor molecule myeloid differentiation factor 88 (MyD88) were infected with the vaccine strain Mycobacterium bovis (BCG), and the immune response and bacterial burden were investigated. Macrophages and dendritic cells from MyD88-deficient mice stimulated in vitro with BCG mycobacterial antigens produced very low levels of proinflammatory cytokines, while the expression of costimulatory molecules such as CD40 and CD86 was preserved. Upon systemic infection with BCG (2 x 10(6) CFU i.v.) MyD88-deficient mice developed confluent chronic pneumonia with two log higher CFU than wild-type mice. Interestingly, the infection was controlled in liver and spleen and there was efficient systemic T-cell priming with high IFNgamma production by CD4+ splenic T cells in MyD88-deficient mice. Lung infiltrating cells showed IFNgamma production by pulmonary CD4+ T cells upon specific restimulation, and a reduced capacity to produce nitric oxide and IL-10. In summary, despite the dramatic reduction of the innate immune response, MyD88-deficient mice were able to mount an efficient T-cell response to mycobacterial antigens, which was however insufficient to control infection in the lung, resulting in chronic pneumonia in MyD88-deficient mice. 相似文献
98.
Nonobese diabetic (NOD) mice develop multi-organ autoimmune diseases, including type 1 diabetes. We hypothesized that backcrossing the MHC region from SJL (H-2(s)) mice, which have an endogenous PLP(139-151)-reactive repertoire, onto the background of autoimmune-prone NOD mice would result in a mouse strain that is highly susceptible to experimental autoimmune encephalomyelitis (EAE). Unexpectedly, although we detected an endogenous PLP(139-151) repertoire in the NOD.S mice, they did not develop spontaneous EAE and were relatively resistant to PLP(139-151)-induced EAE when compared to SJL mice. This resistance was associated with lower production of proinflammatory cytokines and a decreased expansion of PLP(139-151)-specific CD4(+) T cells after immunization and restimulation with PLP peptide in vitro. V(beta) chain usage among PLP(139-151)-reactive T cells differed between SJL and NOD.S mice. Furthermore, NOD.S mice were resistant to the development of insulitis and cyclophosphamide-induced diabetes, but not sialadenitis. Altogether, even though NOD mice develop spontaneous autoimmune diseases, they become relatively resistant to induction of EAE even when they express the EAE-permissive class II molecule I-A(s). Our data show that certain combinations of otherwise susceptibility-conferring MHC and non-MHC genes can mediate autoimmune-disease resistance when they are paired together. These findings do not support the "shared autoimmune gene" hypothesis. 相似文献
99.
Bernhard U. Zabel Susan L. Naylor Karl-Heinz Grzeschik Alan Y. Sakaguchi 《Somatic Cell and Molecular Genetics》1984,10(1):105-108
Using human-mouse somatic cell hybrids containing different parts of chromosome 6 and a DNA probe of the oncogene (V-myb) of avian myeloblastosis virus (AMV), we regionally mapped by Southern blot techniques the human cellular myb (cmyb) protooncogene to 6q21qter. 相似文献
100.
Cloud point temperatures (Tcp) and crystallization temperatures (Tl/s) were measured at different constant shear rates for the ternary system tetrahydronaphthalene/poly(ethylene oxide)/oligo(dimethyl siloxane‐b‐ethylene oxide) using a rheo‐optical device and in the case of Tl/s additionally a viscometer. This system enables for the first time a joint investigation of both transitions with a given mixture. Shear favors the homogeneous liquid state and the formation of crystals. Tcp (liquid/liquid demixing, UCST) shifts to lower and Tl/s (liquid/solid, segregation of PEO) to higher temperatures by several degrees as the shear rate, , is increased up to 500 s?1. The normalized shift in Tcp fits well into previous results for high molecular weight blends, oligomer mixtures, polymer solutions in single solvents and low molecular weight mixtures. A phase separated near critical blend was examined 1 K below its Tcp by means of a shear cell (Linkam) in the quiescent state and under shear with respect to its morphology. Upon an increase in one observes a transition from the co‐continuous structures existing in the quiescent state via deformed and oriented particles to string like morphologies. Finally, at sufficiently high shear rates the mixture becomes homogeneous and structures can no longer be seen under the microscope. The morphologies developing after the secession of shear are pointing to pronounced influences of the flow history of the system on the final structure of two phase blends.