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51.
Carlos R Ferreira Kristina Kintzinger Mary E Hackbarth Ulrike Botschen Yvonne Nitschke M Zulf Mughal Genevieve Baujat Dirk Schnabel Eric Yuen William A Gahl Rachel I Gafni Qing Liu Pedro Huertas Gus Khursigara Frank Rutsch 《Journal of bone and mineral research》2021,36(11):2193-2202
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the natural course and possible differences between the causative genes remain unknown. In all, 247 individual records for patients with GACI (from birth to 58.3 years of age) across 19 countries were reviewed. Overall mortality was 54.7% (13.4% in utero or stillborn), with a 50.4% probability of death before the age of 6 months (critical period). Contrary to previous publications, we found that bisphosphonate treatment had no survival benefit based on a start-time matched analysis and inconclusive results when initiated within 2 weeks of birth. Despite a similar prevalence of GACI phenotypes between ENPP1 and ABCC6 deficiencies, including arterial calcification (77.2% and 89.5%, respectively), organ calcification (65.8% and 84.2%, respectively), and cardiovascular complications (58.4% and 78.9%, respectively), mortality was higher for ENPP1 versus ABCC6 variants (40.5% versus 10.5%, respectively; p = 0.0157). Higher prevalence of rickets was reported in 70.8% of surviving affected individuals with ENPP1 compared with that of ABCC6 (11.8%; p = 0.0001). Eleven affected individuals presenting with rickets and without a GACI diagnosis, termed autosomal recessive hypophosphatemic rickets type 2 (ARHR2), all had confirmed ENPP1 variants. Approximately 70% of these patients demonstrated evidence of ectopic calcification or complications similar to those seen in individuals with GACI, which shows that ARHR2 is not a distinct condition from GACI but represents part of the spectrum of ENPP1 deficiency. Overall, this study identified an early mortality risk in GACI patients despite attempts to treat with bisphosphonates, high prevalence of rickets almost exclusive to ENPP1 deficiency, and a spectrum of heterogenous calcification and multiple organ complications with both ENPP1 and ABCC6 variants, which suggests an overlapping pathology. © 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR). This article has been contributed to by US Government employees and their work is in the public domain in the USA. 相似文献
52.
Dhruva Sharma Ganapathy Subramaniam Neha Sharma 《Indian Journal of Thoracic and Cardiovascular Surgery》2021,37(3):323
Cardiac surgeries especially involving crux of the heart as performed in tetralogy of Fallot (TOF) and pulmonary stenosis are mainly responsible for junctional ectopic tachycardia (JET). Diversified antiarrhythmic agents have been used in an impressive way to treat JET but showed suboptimal efficacy and varied associated adverse effects. But, ivabradine has proved as final crusader for its treatment. We report our initial experience of 4 cases in last 6 months with ivabradine in the management of postoperative JET. Encouraged by various reports and our increasing experience with ivabradine in heart failure population, we have moved to ivabradine as the first drug of choice for postoperative JET. Bradycardia was the only significant adverse effect in our series. The availability of atrial and ventricular pacing wires or at least transvenous temporary pacing should be ensured before starting ivabradine. 相似文献
53.
IntroductionPRECICE intramedullary magnetic lengthening nails, introduced in 2011, have changed the landscape of long bone limb lengthening. The implants have a stroke ranging from 5 to 8 cm, but it may be desirable to perform part of the lengthening at one treatment, allow bone healing, leave the implant in place, dormant, and then return one or more years later to re-lengthen with the same implant. We call this the “sleeper” nail concept. This strategy may be gentler for the joints and soft tissues. Would the nail mechanism still be functional one or more years later?MethodsWe tested 102 intact, consecutively explanted nails. Using a “fast magnet,” the male part was lengthened to 5 mm short of its maximum stroke capacity and retracted back to 35 mm (all nails start with the male part exposed 30 mm). The nails passed the test if the male part succeeded in lengthening to 5 mm short of the maximum stroke capacity and back to 35 mm (or only retract in case fully deployed at testing). During our testing, the nails were prevented from reaching their full capacity of lengthening/retraction to avoid jamming the gears. Failure was defined as the inability or partial ability to complete the process.ResultsEighty-six nails (84.3%) performed successfully according to our testing standard. When comparing successful and failed nails in terms of nail type, generation, diameter, length and in vivo interval, there was no statistical significance. Comparing both groups in terms of status at testing (fully deployed or not) showed statistical significance with 9 of the 16 failed nails fully deployed at testing (p < 0.001).ConclusionDormant PRECICE nails can be reactivated for further lengthening. The results imply that full deployment may damage the mechanism, making future re-use by retracting and then re-lengthening unsuccessful. The candidate nails for this purpose should not have any signs of clear damage (bending or breakage) and should not have been fully deployed. However, surgeons and patients should be aware of the need for possible nail exchange if the “sleeper” nail fails to wake up.Level of evidenceLevel IV case series analysis of retrieved surgical implants. 相似文献
54.
顺行交锁髓内钉治疗肱骨骨折 总被引:1,自引:0,他引:1
目的探讨顺行交锁髓内钉治疗肱骨骨折的手术要点和治疗效果。方法回顾性分析2003年10月~2005年10月23例顺行肱骨交锁髓内钉治疗肱骨干中上段骨折。结果全部病例随访6个月~1年3个月,平均11个月。所有病例均骨性愈合,平均临床愈合时间为2.4个月。所有关节活动度均可。结论顺行交锁髓内钉治疗肱骨中段或中上段骨折,效果良好。 相似文献
55.
[背景 ]探讨卵巢黄体破裂易误诊为异位妊振的主要原因 .[病例报告 ]对 2 0例术前误诊为异位妊娠的病例资料进行回顾性分析 ,月经周期延长或后穹窿 (腹腔 )穿刺抽出不凝血时易误诊为异位妊娠 .[讨论 ]卵巢黄体破裂与异位妊娠的临床表现极为相似 ,应注意鉴别诊断 相似文献
56.
交锁髓内钉治疗胫骨不稳定性骨折 总被引:1,自引:0,他引:1
目的 探讨交锁髓内钉治疗胫骨不稳定骨折的效果。方法 本研究38例中不扩髓法31例,扩髓法7例;闭合穿针33例,开放穿针5例;静力性固定32例,动力性固定6例。结果 平均随访时间10月(3~22月)采用Johner-Wruh评分标准,对治疗的最终结果证定:优31例,良5例,中1例,差1例。骨折平均愈合时间;闭合性骨折16周(11~24周),开放性骨折18周(12~26周),2例延迟愈合(闭合性骨折、开放性骨折各1例)。无感染及骨不连。结论 文锁髓内钉是治疗胫骨不稳定骨折的较好方法之一。 相似文献
57.
58.
[目的 ]探讨氨甲喋呤单次肌肉注射治疗异位妊娠的效果及适应症 .[方法 ]对 2 1例异位妊娠患者单次肌肉注射氨甲喋呤 ,剂量为 5 0mg/m2 ,每周检测绒毛膜促性腺激素水平 .[结果 ]17例 (80 % )成功 ,4例失败 ,成功与否与首次检测时的血绒毛膜促性腺激素值高低有关 .[结论 ]肌肉注射氨甲喋呤是简便而有效的治疗早期异位妊娠的方法之一 ,但应严格掌握适应症 .适用于异位妊娠包块直径小于 5cm、无内出血、血绒毛膜促性激素低于 16 0 0 μg/L者 相似文献
59.
The clinical usefulness of measuring serum concentrations ofprogesterone, human chorionic gonadotrophin (HCG) and the free-subunit of HCG in distinguishing between early viable and non-viablepregnancy, before an accurate ultrasound diagnosis is possible,was evaluated in a prospective study of patients presentingto our emergency gynaecology service with a clinical suspicionof ectopic pregnancy. Patients were selected on the basis ofinitial HCG concentrations; samples with HCG 2510 000IU/I were later analysed for progesterone and free HCG. Of the181 patients studied, 38 (21%) had an ectopic pregnancy, 108(60%) had a spontaneous abortion and 35 (19%) had a viable intra-uterinepregnancy. Concentrations of HCG and free HCG in the group withviable pregnancies were significantly higher than in the groupwith ectopic pregnancy (P < 0.001) and than those destinedto miscarry (P < 0.01). Progesterone concentrations werealso significantly higher in the viable versus the ectopic andthe spontaneous abortion groups (P < 0.001 in each case).Despite these highly significant differences there was a degreeof overlap such that it was impossible to devise a cut-off levelfor any hormone analysed, either singly or in combination, whichwould offer a clinically useful predictor of outcome. 相似文献
60.
About 30% of patients who have a Roux-en-Y gastrojejunostomy after gastrectomy suffer from abdominal pain, nausea, vomiting
of food and bloating made worse by eating. This syndrome, called the Roux stasis syndrome, is caused, in part, by a motility
disorder of the Roux limb. Transection of the jejunum during the construction of the limb separates the limb from the natural
small intestinal pacemaker located in the duodenum. Ectopic pacemakers then appear in the limb and trigger retrograde contractions
in its proximal portion. These contractions slow transit through the limb and result in Roux stasis. Current nonsurgical treatment
of the syndrome includes the use of prokinetic agents and intestinal pacing, neither of which has demonstrated long-term benefits.
A near-total gastrectomy may speed upper gastrointestinal transit somewhat, but stasis in the Roux limb often persists. Our
current approach aims at preventing the syndrome by the use of an ‘uncut’ Roux limb, an operation which preserves myoneural
continuity between the duodenal pacemaker and the Roux limb and so prevents the appearance of ectopic pacemakers and stasis
in the limb. 相似文献