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71.
《European journal of medical genetics》2017,60(1):2-11
In the 30 years since the Chornobyl nuclear power plant disaster, there is evidence of persistent levels of incorporated ionizing radiation in adults, children and pregnant women in the surrounding area. Measured levels of Cesium-137 vary by region, and may be influenced by dietary and water sources as well as proximity to nuclear power plants. Since 2000, comprehensive, population-based birth defects monitoring has been performed in selected regions of Ukraine to evaluate trends and to generate hypotheses regarding potential causes of unexplained variations in defect rates. Significantly higher rates of microcephaly, neural tube defects, and microphthalmia have been identified in selected regions of Ukraine collectively known as Polissia compared to adjacent regions collectively termed non-Polissia, and these significantly higher rates were evident particularly in the years 2000–2009. The Polissia regions have also demonstrated higher mean whole body counts of Cesium-137 compared to values in individuals residing in other non-Polissia regions. The potential causal relationship between persistent ionizing radiation pollution and selected congenital anomaly rates supports the need for a more thorough, targeted investigation of the sources of persistent ionizing radiation and the biological plausibility of a potential teratogenic effect. 相似文献
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V. E. Marqués-Fernández H. Sánchez-Tocino M.T. Escudero-Caro R. Cancho-Candela M. García-Zamora 《Neuro-ophthalmology (Aeolus Press)》2016,40(5):229-233
Lissencephaly is a rare disorder due to abnormal neural migration, causing neurological impairment and clinically characterised by mental retardation and epilepsy. Any disturbance of the visual pathway can cause loss of vision. The authors describe a case of a 6-year-old boy referred to the ophthalmologist presenting poor bilateral vision. This child had no other known medical conditions, and neurological examination was completely normal. Only when a magnetic resonance imaging was made that a lissencephaly-pachygyria with band heterotopia mostly occipital was noted. Cortical defects should be considered in order to diagnosis some visual defects in children. 相似文献
74.
楼建义 《中国妇幼健康研究》2015,(3)
子宫动静脉畸形( uterine arteriovenous malformations, UAVMs)在临床上是较为少见的疾病,但常常导致不明原因阴道流血,有时可出现大出血,危及生命。现对在金华市中心医院诊治的2例UAVMs病例进行回顾性分析,并复习相关文献,报道如下。 相似文献
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目的探讨CT血管造影(CTA)在诊断脑动静脉畸形(AVM)中的应用价值。方法选择2010年1月至2013年5月入住连云港市第二人民医院21例AVM患者的影像资料,分析其CT平扫、增强扫描的影像表现,并与手术结果进行比较。结果 21例患者检测出21处AVM,均进行病灶手术切除。三维CTA影像结果和患者手术所见AVM结果进行对比显示:①CTA影像对AVM位置的诊断与手术结果一致,符合率高达100%。②CTA对供血动脉显示率为95.3%(41/43),对引流静脉的显示率为72.7%(24/33)。③21处畸形血管团采用三维CTA检测显示其累及范围与手术结果测量,比较差异无统计学意义(P>0.05)。结论 CTA是一种安全可靠的诊断AVM的影像手段,具有良好的临床诊断及手术指导应用价值。 相似文献
76.
Joshua R. Labott Cody C. Wyles Matthew T. Houdek Megha M. Tollefson David J. Driscoll William J. Shaughnessy Rafael J. Sierra 《The Journal of arthroplasty》2019,34(4):682-685
Background
Klippel-Trénaunay syndrome (KTS) is a severe vascular malformation that can lead to hypertrophic osteoarthritis. Total knee arthroplasty (TKA) performed in extremities affected with KTS is challenging given the high-risk vascular considerations and occasionally poor bone quality.Methods
We identified 12 patients with KTS who underwent TKA between 1998 and 2017. There were 7 men, mean age 42 years, and mean follow-up was 7 years. Before arthroplasty, 2 patients (17%) had preoperative sclerotherapy. Preoperative vascular studies were done for 9 patients (75%) and included magnetic resonance imaging (n = 7), magnetic resonance angiography (n = 1), and computed tomography angiography (n = 1). A preoperative blood conservation protocol was used for all operations and included the use of tranexamic acid (TXA) in later years. Posterior-stabilized TKA was used in 10 cases and cruciate-retaining TKA was used in 2 cases.Results
At final follow-up, 2 patients (17%) had undergone revision surgery: 1 for infection and 1 for tibial loosening with subsequent arthrofibrosis. Knee Society Scores (36-83, P < .0001) and functional scores (48-84, P = .0007) significantly increased between the preoperative and postoperative period. Likewise at last follow-up, the mean knee range of motion significantly increased (82°-104°, P = .04). Median blood loss for patients who received TXA was 200 mL compared to 275 mL in patients who did not receive TXA (P = .66). Likewise there was no difference (P = .5) in the proportion of patients who required a transfusion between those who received TXA (2/6, 33%) and those who did not (3/6, 50%).Conclusion
In this small series, TKA can lead to significant clinical improvement for patients with KTS. Modern blood management techniques and a careful multidisciplinary care approach render TKA a reasonable option for select patients with KTS.Level of Evidence
Level IV case series, therapeutic. 相似文献77.
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Manuel J. Amador-Patarroyo Mario A. Pérez-Rueda Carlos H. Tellez 《Saudi Journal of Ophthalmology》2015,29(1):32-38
Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause congenital visual impairment and blindness. Each entity in this group of optic nerve anomalies has individually become more prevalent as our ability to differentiate between them has improved due to better characterization of cases. Access to better medical technology (e.g., neuroimaging and genetic analysis advances in recent years) has helped to expand our knowledge of these abnormalities. However, visual impairment may not be the only problem in these patients, some of these entities will be related to ophthalmologic, neurologic and systemic features that will help the physician to identify and predict possible outcomes in these patients, which sometimes may be life-threatening. Herein we present helpful hints, associations and management (when plausible) for them. 相似文献