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目的探讨伴岛叶三层现象(TA)的急性坏死性脑病(ANE)临床及遗传学特征。方法回顾分析1个确诊为ANE家系的临床资料。结果先证者为男性,4.5岁时以惊厥、意识障碍起病,1岁时有热性惊厥史;头颅磁共振示对称性多灶性损害,岛叶存在TA。家系中有6例患者,起病年龄6月龄至50岁,主要以发热后惊厥或惊厥持续状态及意识障碍起病,3例因惊厥持续状态死亡;免疫治疗及能量支持可改善预后。基因检测发现家系RANBP2基因变异(NM_006267;c.1754 CT[p.T585M])。结论首次报道TA可出现于岛叶。 相似文献
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《Journal of Clinical Orthopaedics and Trauma》2019,10(2):401-405
IntroductionIn Plantar Fasciitis, the main concern of the patients is the pain that disturbs their day to day activities. Different modalities of treatments are being used for its pain management. This study seeks to investigate and compare decrease in level of pain following treatment with Methylprednisolone injections (DMP) Vs Extra-Corporeal Shock Wave Therapy (ESWT) in plantar fasciitis.MethodsThis prospective comparative non randomized study was conducted in 60 patients of any age presenting with Plantar Fasciitis at B&B Hospital, Kathmandu. Patients were divided into 2 groups (30 each) based on patients preference. Methylprednisolone injection was given to one group and another group received ESWT. Follow up of both groups were carried out at 6 weeks, 3 months and 6 months and the outcome was measured with Visual Analogue Pain Scale (VAS). Statistical analysis wasdone using SPSS software, version 13. Chi-square and Independent t-test were applied to look for significant variations in outcome.ResultsFollow-up at 6 weeks revealed 26 (86.7%) patients attaining VAS < 5 in ESWT group in comparison to 16 (53.3%) patients of DMP group (p = 0.005). At the end of 6 months, 5 patients in DPM group still had significant pain (VAS ≥ 5) compared to 2 patients in ESWT group (p = 0.02). However 11 patients of DMP group and 23 of ESWT group received single episode of treatment only and had persistent symptomatic pain relief (VAS < 5) during all follow ups at 6 weeks, 3 months and 6 months (p = 0.004).ConclusionsPlantar fasciitis was more prevalent in overweight population and females. Significant improvement in pain was observed with both ESWT and DMP Injections. However, ESWT was found to be more effective than DMP Injections for treatment of Plantar Fasciitis. 相似文献
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目的探讨针刺京骨穴联合推拿治疗背肌筋膜炎的临床疗效。方法将2016年10月—2018年10月收治的背肌筋膜炎患者86例纳入研究,采用随机数字表法分组。对照组43例予以推拿治疗,观察组43例予以针刺京骨穴联合推拿治疗。比较2组患者的治疗总有效率、VAS评分及Oswestry功能障碍指数、痊愈所用时间。结果观察组治疗总有效率为95.3%,而对照组仅为81.4%,差异有统计学意义(P<0.05);2组治疗后VAS评分、Oswestry功能障碍指数均有下降,观察组上述指标低于对照组,差异有统计学意义(P<0.05);观察组痊愈所用时间短于对照组,差异有统计学意义(P<0.05)。结论针刺京骨穴联合推拿治疗背肌筋膜炎的临床疗效突出,可缓解背部疼痛、恢复功能活动,并缩短了愈合时间,提高了生活质量,值得一定的临床推广。 相似文献
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The diagnosis of hemophagocytic lymphohistiocytosis (HLH) with cerebral involvement is challenging given the rarity of HLH and its resemblance to the much more common severe sepsis. Timely diagnosis and treatment may be lifesaving. We report two cases demonstrating different and rare forms of severe brain involvement in adult patients with HLH: acute necrotizing encephalopathy, and diffuse hemorrhagic disease due to disseminated intravascular coagulation. Severe HLH with brain involvement in adults is rare. HLH with cerebral involvement should be considered in patients presenting with severe systemic inflammatory response syndrome (SIRS) but negative cultures and unusual or unexpectedly severe clinical and/or radiologic signs of cerebral dysfunction. Similar brain injury may occur in patients with cytokine storm syndrome due to COVID-19.BackgroundHemophagocytic lymphohistiocytosis (HLH) presents with fevers, rash, organomegaly, cytopenia, and increased triglycerides and ferritin (Ramos-Casals et al., 2014) [1]. Neurologic abnormalities are reported in about one-third of patients (Cai et al., 2017), including a few cases of acute necrotizing encephalopathy (ANE) (Xiujuan et al., 2015). Coagulation abnormalities are frequent in HLH patients (Valade et al., 2015).ObjectiveTo raise awareness about the importance of early diagnosis and treatment of HLH with neurological involvement to prevent serious complications and demise. 相似文献
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Advait Prakash Bhavesh Doshi Sangram Singh Tanmay Vyas Anvesh Jain 《African Journal of Paediatric Surgery》2015,12(1):82-85
Intussusception is a very rare cause of intestinal obstruction in neonates. It is of extremely rare occurrence among premature neonates. We present a case of 11-day-old premature neonate who presented with abdominal distension, intolerance to feeds, vomiting, significant bilious aspirate and bleeding per rectum. The initial diagnosis of necrotizing enterocolitis (NEC) led to a delay in the diagnosis. On exploratory laparotomy, it turned out to be a case of ileo-colic intussusception with Meckel''s diverticulum as a lead point. This site of intussusception (ileo-colic) and presence of a lead point among premature neonate is of exceedingly rare occurrence and very few such cases have been reported.In this article, the published work about clinical features and management on intussusceptions in premature neonates has been reviewed. The authors intend to highlight the difficulty in distinguishing the NEC and intussusception. Subtle clinical and radiological features which can help in differentiating the two conditions have been emphasized. This can avoid the delay in diagnosis and management which can prove critical. High index of suspicion with timely intervention is the key for optimizing outcome. A diagnosis of intussusception should always be considered in any preterm infant with suspected NEC. 相似文献
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Erica Kumar Nimesh R. Patel Elizabeth G. Demicco Judith V.M.G. Bovee Andre M. Olivera Dolores H. Lopez‐Terrada Steven D. Billings Alexander J. Lazar Wei‐Lien Wang 《Journal of cutaneous pathology》2016,43(12):1143-1149
Nodular fasciitis is a benign self‐limited myofibroblastic neoplasm, which usually involves the upper extremities and trunk of young patients. These tumors have been shown to harbor a translocation involving the MYH9 and USP6 genes, leading to overexpression of the latter. We report seven cases of nodular fasciitis with cutaneous presentations. All cases involved the dermis, with six involving the superficial subcutis, and one auricular tumor extending into cartilage. All cases showed USP6 rearrangement by fluorescence in situ hybridization; in two of three cases, the characteristic MYH9‐USP6 fusion was shown by RT‐PCR. All patients underwent conservative resection. Nodular fasciitis is an uncommon mesenchymal neoplasm that can occasionally present in superficial locations and is sometimes mistaken for a malignant process. Molecular testing can be useful to distinguish this entity from other cutaneous spindle cell tumors. 相似文献