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81.
1. Three cases of hereditary hemolytic disease secondary to G-6-PD deficiency are described. Two of the cases were first cousins of Scotch-Irish-English descent and the mode of inheritance was believed to be sex-linked.The third case was of Turkish origin; no family studies were availale.2. The mothers, who were heterozygous for G-6-PD deficiency, showed onlyminimal expression of the defect, which was manifested by a slightly decreasedred cell survival in both mothers and an abnormal methemoglobin reductiontest in one of them.3. All three cases showed a more pronounced fall in erythrocyte ATP afterincubation with phenylhydrazine than that observed in primaquine-sensitiveNegroes whose red cells were less deficient in G-6-PD.4. It is suggested that the inability of the G-6-PD-deficient erythrocyte tomaintain adequate levels of ATP may be an important factor in the pathogenesis of the hemolytic process. Submitted on August 26, 1963 Accepted on October 24, 1963 相似文献
82.
Interventions in saphenous vein grafts present some of the most challenging problems in preventing acute complications and limiting restenosis. Available options include repeat bypass surgery, balloon angioplasty, directional atherectomy, transluminal extraction atherectomy, rotational atherectomy, laser angioplasty, and stenting. Stenting appears to provide the best acute and long-term results. Debulking with directional atherectomy prior to stenting may be helpful but its role is unproven. With any device, it is essential to attain the lowest possible residual stenosis with the least amount of manipulation. Complications with vein graft interventions are most commonly related to distal embolization, which occurs most frequently in older vein grafts with diffuse disease, large plaque volume or thrombus, or those with total occlusion. Use of thrombolytics, glycoprotein Ilb/IIIa receptor inhibitors, and thrombectomy devices may be helpful when thrombus is present. Calcium channel blockers may be beneficial when embolization of plaque debris results in slow flow or no-flow during interventions. 相似文献
83.
恰如其分的外周髓鞘形成取决于雪旺细胞增殖与分化进程间的平衡。丝氨酸/苏氨酸激酶(mTOR)整合多种环境因素,是细胞生长、代谢、发挥作用的中枢调节者。本文报道了一种mTOR的负性调节剂——结节性硬化复合体(TSC1),通过控制细胞增殖和髓鞘稳态,建立了雪旺细胞谱系进展和髓鞘形成的阶段依赖性程序。小鼠雪旺细胞祖细胞中TSC1的解离导致mTOR信号通路激活,继而导致雪旺细胞过量增殖,分化受阻,髓鞘形成减少。转录组分析显示,TSC1突变体中的mTOR活化使得polo样激酶(PLK)依赖性通路和细胞周期调节剂上调。弱化mTOR或者对PLK进行药理抑制部分挽救了因TSC1缺失导致的外周神经发育过程中的髓鞘形成减少。相较之下,成年小鼠成熟雪旺细胞中TSC1缺失可导致髓鞘的过度增殖和过度生长。本文的发现提示了TSC1-mTOR-PLK信号轴在控制雪旺细胞的发育过程中,从增殖到分化和髓鞘内稳态中起到的阶段特异性功能。 相似文献
84.
Ogilvie's syndrome 总被引:6,自引:0,他引:6
Alan F. Sloyer MD Vincent S. Panella MD Barbara E. Demas MD Moshe Shike MD Charles J. Lightdale MD Sidney J. Winawer MD Robert C. Kurtz MD 《Digestive diseases and sciences》1988,33(11):1391-1396
We reviewed the clinical presentation, management, and outcome of 25 patients with Ogilvie's syndrome (acute colonic pseudoobstruction) at Memorial Sloan-Kettering Cancer Center from 1982 through 1985. All patients had cancer and severe associated medical problems. Abdominal x-rays uniformly showed cecal distension ranging between 9 and 18 cm. Twenty-four of the 25 patients were treated with conservative nonendoscopic management. One patient had an exploratory laparotomy for prophylactic cecostomy after only one day of conservative therapy. Of the 24 patients treated conservatively, 23 (96%) improved by both clinical and radiologic criteria in a mean of 3.0 days. The remaining patient died of multisystem failure not related to the acute colonic pseudoobstruction. Colonoscopic decompression was not attempted in any of the 25 patients. There were no colonic perforations, and there were no pseudoobstruction-related deaths. This study questions the need for early endoscopic or surgical treatment in cancer patients with acute colonic pseudoobstruction. 相似文献
85.
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88.
NA Hanchard DR Murdock PL Magoulas M Bainbridge D Muzny YQ Wu M Wang AL McGuire JR Lupski RA Gibbs CW Brown 《Clinical genetics》2013,83(5):457-461
The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future. 相似文献
89.
A. A. Belogurov JR. T. A. Zargarova V. I. Turobov N. I. Novikova O. O. Favorova N. A. Ponomarenko 《Autoimmunity》2013,46(4):362-364
Previously, we demonstrated that autoantibodies (AAb) in multiple sclerosis (MS) reveal site-specific binding and cleavage toward myelin basic protein (MBP) epitope library. We have found several fragments of MBP immunodominant in terms of AAb binding. Here, we applied these peptides to DA rats with induced protracted relapsing experimental allergic encephalomyelitis (EAE) most closely related to MS. DA rats with EAE induced by syngenic spinal cord homogenate in complete Freund's adjuvant were treated by nasal route with human MBP 46–62, 81–102, 124–139, 147–170, and Copaxone®. MBP 124–139 and 147–170 displayed only mild therapeutic effects but MBP 46–62 significantly reduced EAE, reflected by lower clinical scores and shorter EAE duration compared to controls. 相似文献
90.
EUS followed by EMR for staging of high-grade dysplasia and early cancer in Barrett's esophagus 总被引:5,自引:0,他引:5
Larghi A Lightdale CJ Memeo L Bhagat G Okpara N Rotterdam H 《Gastrointestinal endoscopy》2005,62(1):16-23
BACKGROUND: Accurate staging of high-grade dysplasia and of early cancer in Barrett's esophagus is important in the selection of patients for endoscopic therapy. METHODS: Patients with Barrett's esophagus and biopsy specimen proven high-grade dysplasia and adenocarcinoma in focal nodular lesions or in endoscopically unapparent flat lesions in short-segment Barrett's esophagus were initially staged with EUS. In patients with disease limited to the mucosa on EUS, cap-assisted EMR was performed. The depth of tumor invasion on EMR specimens was classified in a similar manner to squamous-cell cancer of the esophagus: m1 (epithelial layer, dysplasia), m2 (lamina propria invasion), m3 (muscularis mucosae invasion), sm (submucosal invasion). RESULTS: EUS was performed in 48 consecutive patients (27 with focal nodular lesions and 21 with microscopic lesions), and submucosal invasion was diagnosed in 8 (confirmed in 7/8 at surgery). EMR was carried out in the remaining 40 patients without significant complications. In the 25 patients with high-grade dysplasia on prior biopsy specimens, EMR confirmed m1 disease in 19; whereas in 6 (24%), invasive adenocarcinoma was detected (to m2 in 4; to m3 in 2). In the 15 patients with invasive cancer on prior biopsy specimens and staged as intramucosal cancer on EUS, intramucosal carcinoma was confirmed in 9 (m2 in 3; m3 in 6); whereas, in 6 patients (40%), submucosal invasion was found. Overall, EUS provided accurate staging in 41/48 patients (85%) with one patient overstaged and 6 patients understaged compared with pathologic staging obtained by surgery or EMR. Of the 34 patients with m1 to m3 staging after EMR, 29 were treated endoscopically and had no evidence of cancer after a mean follow-up of 22.9 months(standard deviation 9.2 months). CONCLUSIONS: EMR provides pathologic staging information that, in addition, may be helpful after EUS if a stage-determined approach is used in the management of high-grade dysplasia and of early cancer in Barrett's esophagus. EMR may be particularly useful for staging of focal nodules or in short-segment Barrett's esophagus with microscopic lesions when endoscopic therapy is an option. 相似文献