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81.
Ki CS Lee WY Han DH Sung DH Lee KB Lee KA Cho SS Cho S Hwang H Sohn KM Choi YJ Kim JW 《Journal of human genetics》2002,47(9):473-477
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized
by slowly progressive spasticity and weakness of the lower extremities. Among eight loci linked with autosomal-dominant (AD)-HSP,
the SPG4 locus on chromosome 2p22 accounts for about 40% of all patients. Recently, mutations in a new member of the AAA protein family,
called spastin, have been identified as responsible for SPG4-linked AD-HSP. Here, we describe a novel missense mutation (c.1031T>A; I344K) in exon 7 of the SPG4 gene identified in a Korean family with typical clinical features of pure AD-HSP. The mutation affects the third amino acid
of the highly conserved AAA cassette domain, which is the most fore part of the domain altered by a missense mutation reported
so far. Clinical presentations of affected individuals carrying the I344K mutation were not different from those of pure AD-HSP
with SPG4 mutations reported previously. However, it is noteworthy that neither urinary dysfunction nor involvement of upper extremities
was noticed in this family. To our knowledge, this is the first report of genetically confirmed AD-HSP in Korea.
Received: February 20, 2002 / Accepted: May 21, 2002 相似文献
82.
Galactosylated chitosan as a synthetic extracellular matrix for hepatocytes attachment 总被引:10,自引:0,他引:10
Galactose moiety as the hepatocyte anchorage was covalently coupled with chitosan for the development of synthetic extracellular matrix. Hepatocytes adhesion to galactosylated chitosan (GC)-coated polystyrene (PS) dish became as high as 94.7% after 2 h incubation whereas the hepatocytes adhesion to chitosan-coated PS dish was 69.1%, indication of galactose-specific recognition between GC molecules and asialoglycoprotein receptors of hepatocytes. The DNA synthesis of the hepatocytes adhered to GC-coated dish was increased in the presence of epidermal growth factor (EGF) at low concentration of GC (0.05 microg/ml) whereas the DNA synthesis of the hepatocytes adhered to GC-coated dish was decreased in the presence of EGF at high concentration of GC (5 microg/ml). The spreading shapes of the hepatocytes adhered to the surface in the presence of EGF at low concentration of GC (0.05 microg/ml) were enhanced than in the absence of EGF. The hepatocytes adhered to the surface at high concentration of GC (5 microg/ml) showed round shapes and exhibited many spheroid formation after 24 h in the presence of EGF. 相似文献
83.
Hong KE Ock SM Kang MH Kim CE Bae JN Lim MK Suh CH Chung SJ Cho SC Lee JS 《Journal of Korean medical science》2002,17(4):530-536
Neuropathological deficits are an etiological factor in Tourette syndrome (TS), and implicate a network linking the basal ganglia and the cerebrum, not a particular single brain region. In this study, the volumes of 20 cerebral and cerebellar regions and their symmetries were measured in normal boys and TS boys by brain magnetic resonance imaging. Brain magnetic resonance images were obtained prospectively in 19 boys with TS and 17 age-matched normal control boys. Cerebral and cerebellar regions were segmented to gray and white fractions using algorithm for semi-automated fuzzy tissue segmentation. The frontal, parietal, temporal, and the occipital lobes and the cerebellum were defined using the semiautomated Talairach atlas-based parcellation method. Boys with TS had smaller total brain volumes than control subjects. In the gray matter, although the smaller brain volume was taken into account, TS boys had a smaller right frontal lobe and a larger left frontal lobe and increased normal asymmetry (left>right). In addition, TS boys had more frontal lobe white matter. There were no significant differences in regions of interest of the parietal, temporal, or the occipital lobes or the cerebellum. These findings suggest that boys with TS may have neuropathological abnormalities in the gray and the white matter of the frontal lobe. 相似文献
84.
85.
Yoshino H Futakuchi M Cho YM Ogawa K Takeshita F Imai N Tamano S Shirai T 《Clinical & experimental metastasis》2005,22(5):441-447
Previously, we established the in vivo lung metastasis model of rat HCC induced by two hepatocarcinogens, diethylnitrosamine (DEN) and N-nitrosomorpholine (NMOR)
at a dose of 120 ppm. This model allows us to investigate modifying factors leading to the inhibition of metastasis formation.
However, low survival rates made the evaluation of metastasis formation difficult. The current experiments were conducted
to modify the experimental protocol to improve survival and to establish a better animal metastasis model. Lower doses of
NMOR (80 or 40 ppm in drinking water) were given to F344 rats for 14 weeks after DEN treatment. Survival rates in the 80 ppm
group and in the 40 ppm group were 57% and 81%, respectively and these values were significantly higher than that in 120 ppm.
Incidences of lung metastasis in the 40 ppm group steadily increased up to 67% by week 36 while that in the 80 ppm increased
sharply up to 86% by week 24. Severity of lung metastases in the 40 ppm group at week 36 was mild compared with the 80 ppm
group at week 24. In the second experiment, in order to characterize HCC development and lung metastasis in the 40 ppm group,
rats given DEN and then followed with 40 ppm NMOR were killed sequentially. Development of HCC was observed at week 14 and
reached 100% incidence at week 20. First lung metastatic lesions were evident at week 22, and incidence of lung metastasis
reached 100%. Tumor cells were identified in the blood at week 20 by RT-PCR. The current study revealed that 40 ppm NMOR for
14 weeks after DEN treatment developed HCC without lung metastases at week 22, then HCC with a frequent lung metastasis at
week 40. Thus, it can be said that this system is a more appropriate model for elucidation of mechanisms of metastasis and
also for analysis of factors to inhibit natural metastasis. 相似文献
86.
Silver sulfadiazine (Ag-SD) is a useful antibacterial agent for wound treatment. However, recent findings indicate that the compound delays the wound-healing process. That delay may be reversed by treatment with growth factors. The purpose of this study, was to evaluate the cyto-protective effect of epidermal growth factor (EGF) against Ag-SD treated keratinocytes and to investigate the reversibility of the impaired wound-healing process by the co-supplementation of EGF. Four types of drug-loaded collagen sponge dressings with different concentrations of Ag-SD, EGF and Ag-SD + EGF were prepared. An immortalized keratinocyte, HaCaT cells, were cultured in 35-mm Petri-dish using Dulbecco's Modified Eagle's Minimal Essential Medium (DMEM) with 10% FBS. Cultures were treated with the samples submerged, and viabilities of cultures were evaluated using MTT assay. The wound heal efficacy was evaluated in a partial thickness burn mouse model. Cells treated with EGF showed a cyto-protective effect on 1% Ag-SD treated cells with significant increase in viable cell numbers at concentrations ranging from 1 to 50 microg/ml. The cytotoxicity of Ag-SD impaired wound healing, while the addition of EGF could reverse the impairment. This evidence suggests that EGF is a useful agent in the retardation of wound healing caused by Ag-SD. Therefore, a drug delivery system containing both EGF and Ag-SD, such as that used in the study, may be clinically relevant. 相似文献
87.
Kim YS Cheon KA Kim BN Chang SA Yoo HJ Kim JW Cho SC Seo DH Bae MO So YK Noh JS Koh YJ McBurnett K Leventhal B 《Yonsei medical journal》2004,45(1):81-89
In order to develop a structured and objective diagnostic instrument, authors completed: (1) the translation and back translation of the Korean version of the Kiddie-Schedule for Affective Disorders and Schizophrenia - Present and Lifetime Version (K-SADS-PL) and (2) the examination of its validity and reliability of the K-SADS-PL-Korean version (K-SADS- PL) when used with Korean children. A total of 91 study subjects were recruited from child and adolescent psychiatry outpatient clinics. Clinical diagnoses were used as a gold standard for the examination of validity of K-SADS-PL-K. Consensual validity of threshold and sub-threshold diagnoses were good to excellent for attention-deficit/hyperactivity disorder (ADHD), fair for tic and oppositional defiant disorders, and poor to fair for anxiety and depressive disorders. Inter-rater and test-retest reliabilities were fair to excellent for ADHD and tic disorder. The significant correlations between the K-SADS-PL-K and Korean Child Behavior Checklist (K-CBCL) were found, which provided additional support for the concurrent validity of the K-SADS-PL-K. Sensitivities varied according to the diagnostic categories, but specificities remained high over all diagnoses, suggesting that the K-SADS-PL-K is a desirable confirmatory diagnostic tool. The results of this study suggest that the K-SADS-PL-K is an effective instrument for diagnosing major child psychiatric disorders, including ADHD, behavioral disorders and tic disorders in Korean children. Future studies will examine the validity and reliability of the K-SADS-PL-K in larger samples, including adolescents and community samples on a variety of child and adolescent psychiatric disorders. 相似文献
88.
Porous PLGA/PVA scaffolds were fabricated by blending poly(lactic-co-glycolic acid) (PLGA) with polyvinyl alcohol (PVA) to improve the hydrophilicity and cell compatibility of the scaffolds for tissue engineering applications. PLGA/PVA blend scaffolds with different PVA compositions up to 20wt% were fabricated by a melt-molding particulate-leaching method (non-solvent method). The prepared scaffolds were investigated by scanning electron microscopy (SEM), mercury intrusion porosimetry, the measurements of water contact angles and bi-axial tensile strengths, etc. for their surface and bulk characterizations. The scaffolds exhibited highly porous and open-cellular pore structures with almost same surface and interior porosities (pore size, 200-300 microm; porosity, about 90%). The PLGA/PVA blend scaffolds with PVA compositions more than 5% were easily wetted in cell culture medium without any prewetting treatments, which is highly desirable for tissue engineering applications. In vitro cell compatibility of the control hydrophobic PLGA and hydrophilized PLGA/PVA (5wt%) blend scaffolds was compared by the culture of human chondrocytes in the scaffolds and the following analyses by MTT assay and SEM observation. It was observed that the PLGA/PVA blend scaffold had better cell adhesion and growth than the control PLGA scaffold. For in vivo evaluation of tissue compatibility, the scaffolds were implanted into the skull defects of rabbits. The results were evaluated by histology examinations. The PLGA/PVA (5wt%) blend scaffold showed better bone ingrowth into the scaffold and new bone formation inside the scaffold than the PLGA scaffold. It seems that 5% addition of PVA to PLGA to fabricate PLGA/PVA blend scaffolds is enough for improving the hydrophilicity and cell compatibility of the scaffolds. 相似文献
89.
90.
Molecular and genetic characterizations of five pathogenic and two non-pathogenic monoclonal antiphospholipid antibodies 总被引:3,自引:0,他引:3
Chukwuocha RU Zhu M Cho CS Visvanathan S Hwang KK Rahman A Chen PP 《Molecular immunology》2002,39(5-6):299-311
Antiphospholipid syndrome (APS) is an autoimmune disease that is characterized by thrombosis, recurrent fetal loss and thrombocytopenia. Antiphospholipid antibodies, detected by enzyme-linked immunoabsorbent assays (aCL) and/or in vitro blood clotting assays (LAC) are strongly associated with APS. Both the molecular structures used by pathogenic antiphospholipid antibodies and the genetic mechanisms leading to their production are unknown. We describe here the variable region genes of seven IgG antiphospholipid antibodies derived from two APS patients. Of these, five are pathogenic as defined in a mouse model of thrombosis and two are not. Analyses of the expressed variable region genes show no preferential V gene usage. However, similar to anti-DNA antibodies, pathogenic antiphospholipid antibodies contain an increased number of arginine residues in the third complimentarity-determining region (CDR3) of their H chains. The increased accumulation of arginine residues in the V(H) CDR3 may act to enhance antigen binding, promote disease and point to the importance of the H chain in the pathogenic potential of certain antiphospholipid antibodies. 相似文献