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41.
Okamoto T Jeong SY Takahashi Y Baughman KW Ogata K Goto J Kanazawa I 《International journal of molecular medicine》2001,8(4):413-416
Calcium channel blocker is useful for a variety of purposes and is effective for preventing hepatitis elicited by different inducers, suggesting its possible clinical application for treating hepatitis. The alpha1-subunit of the dihydropyridine-sensitive L-type calcium channel is a target of calcium channel blocker. For clinical application of calcium channel blocker, it is important to analyze the expression of the L-type calcium channel in the liver. However, the subtype of the L-type calcium channel alpha1-subunit expressed in the liver was not known. In the present study, the alpha1-subunit of the calcium channel expressed in human liver was systematically analyzed. The alpha1D subunit of the dihydropyridine-sensitive L-type voltage gated calcium channel is expressed relatively strongly in the liver and may play an important role in the liver. 相似文献
42.
Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s).
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Adult height was compared between published cases of patients with XX gonadal dysgenesis (XXGD) and those with XY gonadal dysgenesis (XYGD). The mean adult height of XYGD patients (171.0 cm (SD 7.8), n = 27) was significantly greater than that of XXGD patients (164.4 cm (7.7), n = 27) (p less than 0.01). This finding supports the existence of a Y specific growth gene(s) which promotes statural growth independently of the effects of gonadal sex steroids. 相似文献
43.
Ogata T 《Medical molecular morphology》2005,38(4):243-250
Brush cells are widely distributed in the digestive and respiratory apparatus, but their function is still unknown. Because
brush cells (BC) are found in organs secreting NaHCO3, it was hypothesized that these cells may secrete NaHCO3. To test this possibility, rat common bile duct epithelia were examined by ultrastructural cytochemical methods for localizing
HCO3−, Cl−, and Na+ ions. All three ion precipitates were few in or on BCs of rats without stimulation. Lead carbonate precipitates, which localized
HCO3− ions by the lead nitrate-osmium method, increased markedly on the surface of the microvilli (MV) of BCs after secretin or
meal stimulation, but similar precipitates were few on the luminal surface of principal cells (PCs). Silver chloride precipitates,
which indicate the presence of Cl− ions by the silver-osmium method, increased in the apical cytoplasm and in MV of BCs after secretin or meal stimulation,
but they were few in PCs. Sodium pyroantimonate precipitates, which localize Na+ ions by the potassium pyroantimonate-osmium method, increased on the surface of the MV, along the basolateral membrane, and
in the apical cytoplasm of BCs after secretin or meal stimulation, but they were few in PCs. These results strongly suggest
that BCs may be a significant source of NaHCO3 secretion. 相似文献
44.
Muroya K Hasegawa T Ito Y Nagai T Isotani H Iwata Y Yamamoto K Fujimoto S Seishu S Fukushima Y Hasegawa Y Ogata T 《Journal of medical genetics》2001,38(6):374-380
We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) (MIM 146255). Fluorescence in situ hybridisation and microsatellite analyses showed heterozygous gross deletions including GATA3 in four families. Sequence analysis showed heterozygous novel mutations in three families: a missense mutation within the first zinc finger domain at exon 4 (T823A, W275R), an unusual mutation at exon 4 (900insAA plus 901insCCT or C901AACCCT) resulting in a premature stop at codon 357 with loss of the second zinc finger domain, and a nonsense mutation at exon 6 (C1099T, R367X). No GATA3 abnormalities were identified in the remaining two families. The triad of HDR syndrome was variably manifested by patients with GATA3 abnormalities. The results suggest that HDR syndrome is primarily caused by GATA3 haploinsufficiency and is associated with a wide phenotypic spectrum.
Keywords: GATA3; HDR syndrome; phenotypic spectrum; mutation analysis 相似文献
Keywords: GATA3; HDR syndrome; phenotypic spectrum; mutation analysis 相似文献
45.
Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region.
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This report describes a Japanese girl with short stature and a rearranged X chromosome. Her height remained below the 3rd centile growth curve for Japanese girls, and her predicted adult height (148.5 cm) was below her target height (163 cm) and target range (155 to 171 cm). Cytogenetic studies showed that the rearranged X chromosome was formed by a breakage at q26 and a transfer of the Xq fragment onto the tip of Xp. The abnormal X was always late replicating. No mosaicism was detected. Molecular analysis showed an Xp terminal deletion distal to DXYS15. Biochemical and radiological studies for short stature disclosed no abnormality. On the basis of height analysis of previous reports and a genotype-phenotype correlation of this patient, we propose that a growth gene(s) is present in the distal part of the pseudoautosomal region. 相似文献
46.
Satoshi Mochida Itsuro Ogata Yasuhiko Ohta Teruaki Oka Kenji Fujiwara 《Pathology international》1991,41(3):217-220
In order to investigate superoxide production by pulmonary macrophages in the rat, a route was created by ligating both the inferior and superior venae cavae and resecting the aorta after cannulation through the inferior vena cava into the right atrium of the heart. Lung perfusion was performed via this route with nitro blue tetrazolium. Although there was no formazan deposition throughout the lung, it became detectable in both alveolar and interstitial macrophages when phorbol myristate acetate was added to the perfusate. This deposition was markedly enhanced by previous injection of Corynebacterium parvum. The deposition disappeared after further addition of Cu(Lys)2 , a scavenger of superoxide anions. This procedure may be useful for estimating in situ the ability of pulmonary macrophages to produce superoxide in the rat. 相似文献
47.
48.
Mycobacterium avium-M. intracellulare binds to the integrin receptor alpha v beta 3 on human monocytes and monocyte-derived macrophages. 总被引:1,自引:4,他引:1
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Mycobacterium avium-M. intracellulare is an intracellular pathogen responsible for the highest incidence of disseminated bacterial infection in patients with AIDS. Treatment of the infection is difficult and has been of limited efficacy. Attachment of the organism to macrophages is a critical early step in the establishment of the disease. In the present study, we isolated and identified a receptor that mediates attachment of M. avium-M. intracellulare to human peripheral blood monocytes and monocyte-derived macrophages. On Western blotting, (immunoblotting), the receptor was found to cross-react with antibodies against a human vitronectin receptor (alpha v beta 3). The receptor could be purified from monocyte extracts by using monoclonal antibodies (MAbs) against the alpha v subunit of vitronectin receptor coupled to CNBr-Sepharose 4B, as well as with the adhesive tripeptide sequence arginine-glycine-aspartic acid (RGD) coupled to CNBr-Sepharose 4B. Surface-bound MAbs directed against alpha v beta 3 were found to inhibit the attachment of M. avium-M. intracellulare to monocyte-derived macrophages in an in vitro inhibition assay, while MAbs directed against CD14, CD18, alpha 2 beta 1 and platelet glycoprotein gpIIb/IIIa receptors did not inhibit this attachment. These observations suggest that alpha v beta 3 on the surface of human monocytes and monocyte-derived macrophages may function as a receptor for M. avium-M. intracellulare. Identification of a receptor for M. avium-M. intracellulare on macrophages may offer new approaches to the prevention and control of M. avium-M. intracellulare infection at the cellular level. 相似文献
49.
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions 总被引:2,自引:0,他引:2
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50.