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51.
Shinichi Nakamura Kenji Hoshi Shutaro Onda Shunji Kamiya 《The Journal of dermatology》1984,11(5):482-486
Clinical, laboratory and pathologic findings from a case of IgA (λ-type) secreting extramedullary plasmacytoma of the skin are presented. The tumors were found first in the skin of the right upper extremity and then in the left maxillary sinus one year later. Materials were examined by peroxidase-anti peroxidase method (PAP method) and the immunofluorescence method. 相似文献
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T. Suzuki N. Miyake Y. Tsurusaki N. Okamoto A. Alkindy A. Inaba M. Sato S. Ito K. Muramatsu S. Kimura D. Ieda S. Saitoh M. Hiyane H. Suzumura K. Yagyu H. Shiraishi M. Nakajima N. Fueki Y. Habata Y. Ueda Y. Komatsu K. Yan K. Shimoda Y. Shitara S. Mizuno K. Ichinomiya K. Sameshima Y. Tsuyusaki K. Kurosawa Y. Sakai K. Haginoya Y. Kobayashi C. Yoshizawa M. Hisano M. Nakashima H. Saitsu S. Takeda N. Matsumoto 《Clinical genetics》2016,90(6):526-535
Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and a deep interpeduncular fossa which is defined by neuroimaging and is termed the ‘molar tooth sign’. JS is genetically highly heterogeneous, with at least 29 disease genes being involved. To further understand the genetic causes of JS, we performed whole‐exome sequencing in 24 newly recruited JS families. Together with six previously reported families, we identified causative mutations in 25 out of 30 (24 + 6) families (83.3%). We identified eight mutated genes in 27 (21 + 6) Japanese families, TMEM67 (7/27, 25.9%) and CEP290 (6/27, 22.2%) were the most commonly mutated. Interestingly, 9 of 12 CEP290 disease alleles were c.6012‐12T>A (75.0%), an allele that has not been reported in non‐Japanese populations. Therefore c.6012‐12T>A is a common allele in the Japanese population. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). BBS1 is the causative gene in Bardet–Biedl syndrome. These concomitant mutations led to severe and/or complex clinical features in the patients, suggesting combined effects of different mutant genes. 相似文献
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Hayakawa K Mishima K Irie K Hazekawa M Mishima S Fujioka M Orito K Egashira N Katsurabayashi S Takasaki K Iwasaki K Fujiwara M 《Neuropharmacology》2008,55(8):1280-1286
We examined the cerebroprotective mechanism of cannabidiol, the non-psychoactive component of marijuana, against infarction in a 4-h mouse middle cerebral artery (MCA) occlusion model. Cannabidiol was intraperitoneally administrated immediately before and 3 h after cerebral ischemia. Infarct size and myeloperoxidase (MPO) activity, a marker of neutrophil, monocyte/macropharge, were measured at 24 h after cerebral ischemia. Activated microglia and astrocytes were evaluated by immunostaining. Moreover, high-mobility group box1 (HMGB1) was also evaluated at 1 and 3 days after MCA occlusion. In addition, neurological score and motor coordination on the rota-rod test were assessed at 1 and 3 days after cerebral ischemia. Cannabidiol significantly prevented infarction and MPO activity at 20 h after reperfusion. These effects of cannabidiol were not inhibited by either SR141716 or AM630. Cannabidiol inhibited the MPO-positive cells expressing HMGB1 and also decreased the expression level of HMGB1 in plasma. In addition, cannabidiol decreased the number of Iba1- and GFAP-positive cells at 3 days after cerebral ischemia. Moreover, cannabidiol improved neurological score and motor coordination on the rota-rod test. Our results suggest that cannabidiol inhibits monocyte/macropharge expressing HMGB1 followed by preventing glial activation and neurological impairment induced by cerebral ischemia. Cannabidiol will open new therapeutic possibilities for post-ischemic injury via HMGB1-inhibiting mechanism. 相似文献
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Nakagawa K Hirai T Takashima S Fukuda N Ohara K Sasahara E Taguchi Y Dougu N Nozawa T Tanaka K Inoue H 《The American journal of cardiology》2011,(6):912-916
Chronic kidney disease is a risk factor for cardiovascular events, but how it relates to the prognosis associated with clinical risk factors for thromboembolism in patients with nonvalvular atrial fibrillation (AF) is not well known. Estimated glomerular filtration rate (eGFR), score for congestive heart failure, hypertension, age ≥75 years, diabetes mellitus, and stroke/transient ischemic attack (CHADS(2)), and clinical outcomes of cardiovascular events were determined in 387 patients with nonvalvular AF (mean age 66 years, 289 men, mean follow-up 5.6 ± 3.2 years). Decreased eGFR (<60 ml/min/1.73 m(2)) combined with CHADS(2) score ≥2 was associated with higher all-cause (12.9% vs 1.4% per year, hazard ratio [HR] 6.9, p <0.001) and cardiovascular (6.5% vs 0.2% per year, HR 29.7, p <0.001) mortalities compared to preserved eGFR (≥60 ml/min/1.73 m(2)) combined with CHADS(2) score <2. This was also true for rates of cardiac events (cardiac death, nonfatal myocardial infarction, or hospitalization for worsening of heart failure, 10.4% vs 1.3% per year, HR 8.9, p <0.001), ischemic stroke (3.6% vs 0.2% per year, HR 11.0, p <0.001), and cardiovascular events (cardiac events and ischemic stroke, 13.6% vs 1.5% per year, HR 8.3, p <0.001). On multivariate analysis, CHADS(2) score ≥2, decreased eGFR, and male gender independently predicted all-cause mortality. In conclusion, combined eGFR and CHADS(2) score could be an independent powerful predictor of cardiovascular events and mortality in patients with nonvalvular AF. Long-term mortality, cardiac events, and stroke risk were >8 times higher when decreased eGFR (<60 ml/min/1.73 m(2)) was present with higher CHADS(2) score (≥2). 相似文献
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Saliva is known to protect the oral cavity and contains glycoproteins and antimicrobial substances. The distribution of these salivary secretions was studied in the labial glands of the Japanese miniature (Shiba) goat using lectin histochemical and immunohistochemical methods. The mucous acinar cells of the labial glands exhibited glycoconjugates with different saccharide residues, such as GalNAcα1-3GalNAc, Galβ1-4GalNAc, β-d-GlcNAc and sialic acid linked to α2-6Gal/GalNAc. Furthermore, α-d-Man, α-l-Fuc, α-d-GalNAc, β-d-Gal and sialic acid residues were present, in particular, in the serous demilunar cells. Antimicrobial substances (lysozyme, IgA, lactoferrin and β-defensin) were shown to be mainly immunolocalized in the serous demilunes and duct cells. The results obtained are discussed with regard to the functional role of labial glands. The secretory compounds demonstrated may play an important role in the maintenance of oral health with regard to saliva. 相似文献