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101.
A detailed morphological study was carried out using light and electron microscopy on 36 bone specimens from patients suffering from osteogenesis imperfecta (OI) and 20 age- and site-matched control bone specimens. The findings were grouped into the clinical types of OI according to the Sillence classification. The morphological and ultrastructural alterations observed in OI bone correlate well with clinical severity. Thus, OI type I, the mildest type, showed the least abnormalities in bone ultrastructure. OI type IV closely resembled type I, with only minor abnormalities in the bone cells and osteoid. OI type III showed abnormalities in the structure and distribution of osteoid collagen fibrils, whilst OI type II, the lethal form, revealed many varied abnormalities such as thin cortical bone, sparse trabecular bone, increased numbers of osteoclasts and osteocytes, thin osteoid with thin collagen fibrils, and patchy mineralization. 相似文献
102.
103.
Wajid M Abbasi AA Ansar M Pham TL Yan K Haque S Ahmad W Leal SM 《European journal of human genetics : EJHG》2003,11(10):812-815
This article describes the identification of a novel locus (DFNB39) responsible for an autosomal recessive form of hearing loss segregating in a Pakistani consanguineous family. The hearing impaired members of this family present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 7q with a maximum multipoint lod score of 3.8. The region of homozygosity spans a 19 cM region that is bounded by markers D7S3046 and D7S644. 相似文献
104.
Kono Y Yusnita Y Mohd Ali AR Maizan M Sharifah SH Fauzia O Kubo M Aziz AJ 《Archives of virology》2002,147(8):1623-1630
Summary. A virus, named Oya virus, was isolated in Vero cell cultures from the lungs of a pig suspected of Nipah virus infection.
The virus was revealed as a spherical enveloped RNA virus with a diameter of 79 nm. For identification of Oya virus, RT-PCR
was performed. A common primer set for S-RNA of the Simbu serogroup of the genus Bunyavirus was able to amplify a cDNA from Oya virus RNA. The sequence data of the product revealed that the partial gene of Oya virus
S-RNA segment had 65–70% homology with published cDNA sequences of Simbu serogroup viruses. The phylogenetic analysis of the
data showed that the Oya virus is grouped in Simbu serogroup, but is genetically distinct from the serogroup viruses that
have been analyzed molecularly. Serological surveys revealed that the virus distributed widely and densely in Malaysia.
Received January 5, 2002; accepted April 16, 2002 Published online July 19, 2002 相似文献
105.
Life expectancy in British Marfan syndrome populations 总被引:2,自引:0,他引:2
JR Gray AB Bridges RR West L. McLeish AG Stuart JCS Dean MEM Porteous M. Boxer SJ Davies 《Clinical genetics》1998,54(2):124-128
A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970–1990. There were 45 deaths representing 22% of the cohort. Mean age at death was 45.3 ± 16.5 years. 50% median cumulative survival in the total cohort (n = 206) was 53 years for males and 72 years for females. Multivariate analysis confirmed severity as the best independent indicator of survival. These findings and survival curves will assist in the counselling of British families and individuals with Marfan syndrome. 相似文献
106.
Bur?in Tuna Selman S?kmen Sülen Sario?lu Mehmet Füzün Ali Küpelio?lu Hülya Ellidokuz 《Applied immunohistochemistry & molecular morphology》2006,14(1):31-36
OBJECTIVE: To evaluate the expression of HSP70 and pS2 and to determine whether it may be an additional prognostic variable in the prediction of recurrence and survival in rectal adenocarcinomas. METHODS: The paraffin sections of 45 patients with rectal carcinoma who were treated with surgical resection were stained with HSP70 and pS2 antibodies by using the standard biotin immunoperoxidase method. Cytoplasmic staining for both antibodies was scored semiquantitatively. RESULTS: Only 16 (35.6%) tumors showed a positive cytoplasmic reaction with HSP70 antibody, while pS2 expression was observed in 26 (57.8%) tumors. There was an association between HSP70 and pS2 expression (P=0.002). No correlations were found between HSP70 and pS2 expression and tumor recurrence or overall survival and other prognostic factors. However, the type of surgical resection was significantly associated with pS2 expression status (P=0.013). Significant correlations were detected between tumor recurrence and other clinicopathologic parameters, such as clinical stage, lymph node involvement, and resection type (P=0.015, P=0.015, and P=0.03, respectively). Resection type was significantly associated with clinical outcome, recurrence, and metastasis (P=0.009, P=0.03, P<0.01, respectively). In addition, there was a statistically significant relationship between clinical stage and final outcome (P=0.005). CONCLUSIONS: The strong correlation between pS2 expression and incomplete surgical resection suggests that pS2 may be related to invasive tumor behavior and may also play a role in tumor recurrence, although this latter association did not reach statistical significance in this study. HSP70 expression does not appear to be related to tumor invasiveness or tumor recurrence. 相似文献
107.
Sierra C Lascurain R Pereyra A Guevara J Martínez G Agundis C Zenteno E Vázquez L 《Developmental and comparative immunology》2005,29(2):113-121
Using a spectrophotometric NBT reduction assay and phagocytosis, we identified that production of superoxide anions and phagocytic activity of hemocytes from Macrobrachium rosenbergii were significantly higher in the presence of rat, rabbit, and chicken erythrocytes than with human, pig, or horse erythrocytes. Hemocytes stimulated with MrL, MrLMab, or PMA increased 4.7, 5.1, and 6.1 fold, respectively, the oxidative response as compared to non-stimulated hemocytes. MrLMab together with MrL increased 5.7 fold the oxidative capacity of hemocytes as compared to non-stimulated cells. These effects were inhibited with 100 mM GalNAc, GlcNAc, or Neu5Ac and 0.2 microM of sialylated submaxillary gland mucin and fetuin. Piroxicam inhibited (P < 0.05) the production of O(2)(-) induced by MrL, whereas iodoacetamide inhibited the effect of MrLMAb (P < 0.05) in a dose-dependent manner. Our results suggest that MrLMab might activate the oxidative burst through the metabolism of glucose as opposed to MrL which utilizes NADPH-independent mechanisms, very probably through pro-inflammatory metabolites. 相似文献
108.
Infant guinea-pigs born to mothers immunized against influenza virus by infection during pregnancy were reared from birth by non-immune foster mothers. As a control for the effects of fostering, a similar group were fostered to immune mothers. Fostering, regardless of the immune state of the foster-mother, increased the susceptibility of the infant to upper respiratory tract infection. Increased susceptibility was associated with ablation of the infants IgM and IgA antibody responses and reduced secretion of transplacentally acquired IgG antibody in nasal secretions. In the reciprocal experiment, infants of non-immune mothers fostered to immune mothers cleared virus more rapidly than their peers who were fed by their own mothers. This protective effect was associated with an enhanced nasal IgM and IgA antibody response. Infants of immune mothers separated from their mothers at birth and hand-reared on a cow's-milk-based formula feed suffered an increased susceptibility to the virus similar to that seen in fostered infants. Addition of a pool of expressed milk from a group of immune mothers, including their own, to the feed of hand-reared infants did not reduce their susceptibility. However, a further group of infants fed a non-cellular whey fraction of the same milk pool secreted significantly lower titres of virus. This increased protection was associated with elevated levels of IgG antibody secretion into nasal washes early in infection. 相似文献
109.
110.
Zagzag D Salnikow K Chiriboga L Yee H Lan L Ali MA Garcia R Demaria S Newcomb EW 《Laboratory investigation; a journal of technical methods and pathology》2005,85(3):328-341
Invasion into surrounding brain tissue is a fundamental feature of gliomas and the major reason for treatment failure. The process of brain invasion in gliomas is not well understood. Differences in gene expression and/or gene products between invading and noninvading glioma cells may identify potential targets for new therapies. To look for genes associated with glioma invasion, we first employed Affymetrix microarray Genechip technology to identify genes differentially expressed in migrating glioma cells in vitro and in invading glioma cells in vivo using laser capture microdissection. We observed upregulation of a variety of genes, previously reported to be linked to glioma cell migration and invasion. Remarkably, major histocompatiblity complex (MHC) class I and II genes were significantly downregulated in migrating cells in vitro and in invading cells in vivo. Decreased MHC expression was confirmed in migrating glioma cells in vitro using RT-PCR and in invading glioma cells in vivo by immunohistochemical staining of human and murine glioblastomas for beta2 microglobulin, a marker of MHC class I protein expression. To the best of our knowledge, this report is the first to describe the downregulation of MHC class I and II antigens in migrating and invading glioma cells, in vitro and in vivo, respectively. These results suggest that the very process of tumor invasion is associated with decreased expression of MHC antigens allowing glioma cells to invade the surrounding brain in a 'stealth'-like manner. 相似文献