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《Neuro-Chirurgie》2021,67(5):495-499
BackgroundSpinal schwannomas that arise from spinal nerve root sheaths are the most common intradural extramedullary spinal tumours and are often accompanied by nerve roots or spinal cord irritation symptoms. The phenomenon of spinal schwannoma causing subarachnoid haemorrhage (SAH) is rare, with ependymoma of the conus medullaris accounting for most cases.Case reportA 45-year-old man was admitted to our hospital due to progressive lower limb weakness and sudden back pain after hard physical work. The patient had not been able to walk for 2 hours upon admission. An emergency magnetic resonance imaging (MRI) scan showed that the spinal cord at the C6-T4 level was severely compressed by a subdural mass. During the emergency operation, exploration of the dura and arachnoid mater revealed a fresh blood clot covering a tumour located on the ventral side of the spinal cord. The size of the tumour was approximately 3 × 2 × 1 cm without adhesion to the surrounding tissue, but the drainage vein was ruptured. Postoperative pathology showed that the tumour was a schwannoma with areas of fresh haemorrhage and focal necrosis.ConclusionsSpinal schwannomas presenting with SAH are rare events. In our opinion, spinal pathology with rapid progression of neurological symptoms requires early diagnosis and emergency management. Complete excision of haemorrhagic tumours is the goal of treatment to prevent recurrence, which can effectively avoid irreversible damage to the spinal cord resulting from spinal cord compression. 相似文献
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《European journal of medical genetics》2023,66(1):104673
Heritable thoracic aortic diseases (HTAD) are rare pathologies associated with thoracic aortic aneurysms and dissection, which can be syndromic or non-syndromic. They may result from genetic defects. Associated genes identified to date are classified into those encoding components of the (a) extracellular matrix (b) TGFβ pathway and (c) smooth muscle contractile mechanism. Timely diagnosis allows for prompt aortic surveillance and prophylactic surgery, hence improving life expectancy and reducing maternal complications as well as providing reassurance to family members when a diagnosis is ruled out. This document is an expert opinion reflecting strategies put forward by medical experts and patient representatives involved in the HTAD Rare Disease Working Group of VASCERN. It aims to provide a patient pathway that improves patient care by diminishing time to diagnosis, facilitating the establishment of a correct diagnosis using molecular genetics when possible, excluding the diagnosis in unaffected persons through appropriate family screening and avoiding overuse of resources. It is being recommended that patients are referred to an expert centre for further evaluation if they meet at least one of the following criteria: (1) thoracic aortic dissection (<70 years if hypertensive; all ages if non-hypertensive), (2) thoracic aortic aneurysm (all adults with Z score >3.5 or 2.5–3.5 if non-hypertensive or hypertensive and <60 years; all children with Z score >3), (3) family history of HTAD with/without a pathogenic variant in a gene linked to HTAD, (4) ectopia lentis without other obvious explanation and (5) a systemic score of >5 in adults and >3 in children. Aortic imaging primarily relies on transthoracic echocardiography with magnetic resonance imaging or computed tomography as needed. Genetic testing should be considered in those with a high suspicion of underlying genetic aortopathy. Though panels vary among centers, for patients with thoracic aortic aneurysm or dissection or systemic features these should include genes with a definitive or strong association to HTAD. Genetic cascade screening and serial aortic imaging should be considered for family screening and follow-up. In conclusion, the implementation of these strategies should help standardise the diagnostic work-up and follow-up of patients with suspected HTAD and the screening of their relatives. 相似文献
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【摘要】 目的:评价经后路凸侧椎板楔形截骨经肋椎关节松解胸椎间隙矫形治疗青少年重度脊柱侧后凸畸形的安全性和早期临床效果。方法:2014年5月~2016年12月对我院15例青少年重度脊柱侧后凸患者行经后路凸侧椎板楔形截骨经肋椎关节松解胸椎间隙手术治疗,术前仅1例严重脊柱侧后凸患者行头盆环牵引。男6例,女9例,年龄13~18岁(16.1±1.6岁)。其中先天性脊柱侧后凸3例,特发性11例,神经纤维瘤病性1例。术前侧凸Cobb角82°~144°(102.5°±17.6°),侧凸的柔韧性为6.4%~28.5%[(21.56±5.70)%];后凸50°~95°(68.1°±15.3°),冠状位躯干偏移距离(C7中垂线与骶骨中垂线距离)2.0~6.8cm(3.40±1.37cm)。术前四肢肌力及感觉均正常。观察治疗效果。结果:椎板楔形截骨5.20±0.56个(4~6个),松解椎间隙5.20±0.56个(4~6个),手术时间6.1~7.9h(7.00±0.51h),术中出血量1050~2500ml(1450.0±521.3ml)。术后侧凸Cobb角18°~40°(28.0°±6.6°),矫正率72.5%;后凸22°~42°(27.8°±6.1°),矫正率58.4%;冠状位躯干偏移距离0~2cm(0.85±0.74cm),矫正率72.8%。随访25~41个月(33.1±5.4个月)。末次随访时侧凸Cobb角19°~43°(30.0°±6.9°),矫正率70.6%;后凸22°~42°(28.6°±6.5°),矫正率57.2%;冠状位躯干偏移距离0.2~2.3cm(1.10±0.72cm),矫正率71.3%。无胸膜破裂,无假关节形成,无内固定断裂及松动,矫正度无显著丢失。1例患者术前骨盆牵引发生钉道感染,经局部换药及抗生素应用,2周后感染控制;1例术后第3天发生十二指肠系膜上动脉综合征,采取禁食水、持续胃肠减压、维持水电解质平衡、左侧卧位,术后2周痊愈;1例T4左侧椎弓根螺钉侵入椎管压迫神经,术后5h发生左下肢不完全性瘫痪,术后8h去除T4左侧椎弓根螺钉,术后5个月左下肢功能完全恢复。结论:采用后路凸侧椎板楔形截骨经肋椎关节松解胸椎间隙治疗青少年重度脊柱侧后凸畸形,不需要剥离椎体侧方胸膜,手术解剖层次表浅和创伤小,不仅有助于增加脊柱柔韧性,而且可提供足够的压缩和闭合空间来矫正脊柱侧后凸,能获得良好的脊柱三维矫正。 相似文献
79.
Hümeyra Kulluku Albayrak Atilla Kazanc Ahmet Gürhan Güray Mehmet
zgür
zate Oktay Gürcan 《Acta orthopaedica et traumatologica turcica》2021,55(1):76
Spinal osteochondromas are very rare, and they present with nonspecific localized pain owing to bone involvement. Diagnosis is made based on direct X-ray and computed tomography (CT) imaging of the exophytic bone lesion with pedunculated or sessile structure. Although asymptomatic patients can be observed, surgical excision is the main treatment modality. We present the case of a 34-year-old man with solitary thoracic osteochondroma. The patient presented with complaints of pain in the legs, numbness, and inability to walk. The diagnosis was confirmed with CT imaging showing calcified heterogeneous bone lesion originating from the left side of T1-2 facet joint. After total excision, histopathological examination revealed the diagnosis of osteochondroma. No new clinical or radiological findings were detected in the 10-month follow-up. 相似文献
80.