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排序方式: 共有740条查询结果,搜索用时 15 毫秒
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目的 探讨1例肾上腺嗜铬细胞瘤(PCC)伴双侧颈动脉体瘤(CBT)的临床特征和影像学特点,以提高对此类病例的认识。 方法 回顾性分析1例经手术病理证实为肾上腺PCC伴双侧CBT的CT、MRI表现及临床病理特征,并复习相关文献。 结果 病人临床表现无特异性。右侧肾上腺PCC于平扫CT上密度较均一,增强后明显强化,内见低强化区。CBT于头颈部血管CT(CTA)上呈明显不均匀强化团块影,高分辨MRI(HR-MRI)呈混杂信号团块影,其内有多发血管流空信号。病理结果显示线粒体琥珀酸脱氢酶B(SDHB)(+)。 结论 肾上腺PCC合并双侧CBT临床罕见,其影像表现具有一定特征,SDHB(+)可能与病灶的多发性有关。 相似文献
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目的探究抑制微小 RNA-199a-5p(miR-199a-5p)表达对体外脑缺血再灌注( I/R)损伤大鼠模型氧 -葡萄糖剥夺 /再灌注(OGD/R)诱导的肾上腺嗜铬瘤细胞( PC12)损伤的保护作用,并进一步探讨 Klotho在该过程中的作用。方法将 PC12细胞分为 Control组、 OGD/R组、 miR-NC inhibitor组、 miR-199a-5p inhibitor组、 miR-199a-5p inhibitor+shRNA-pLKO.1组和 miR-199a-5p inhibitor+shRNA-Klotho组。 RT-qPCR或蛋白质印迹法( Western blotting)确定各组 PC12细胞转染效率;胆囊收缩素 /缩胆囊素八肽( CCK-8)和流式细胞术确定各组 PC12细胞活力和凋亡率;试剂盒测量各组 PC12细胞中活性氧( ROS)释放量、丙二醛(MDA)含量以及超氧化物歧化酶( SOD)和谷胱甘肽过氧化物酶( GSH-Px)活性;酶联免疫吸附试验( ELISA)法检测各组 PC12细胞中肿瘤坏死因子 -α(TNF-α)、白细胞介素 -1β(IL-1β)、单核细胞趋化蛋白 -1(MCP-1)和白细胞介素 -6(IL-6)水平;双荧光素酶报告基因实验检测 miR-199a-5p与 Klotho靶向关系。结果在 OGD/R诱导的 PC12细胞中, miR-199a-5p表达增高, Klotho表达降低;细胞活力降低,凋亡率增高; ROS释放量和 MDA含量以及 TNF-α、IL-1β、MCP-1和 IL-6水平升高, SOD和 GSH-Px活性降低( P<0.05)。转染 miR-199a-5p抑制物减弱了 OGD/R的诱导 PC12细胞活力下降和细胞凋亡率增高;削弱了暴露于 OGD/R的 PC12细胞中 ROS释放量和 MDA含量以及 TNF-α、IL-1β、MCP-1和 IL-6水平,并提高了 SOD与 GSH-Px活性(P<0.05)而 miR-199a-5p抑制物对 OGD/R诱导 PC12细胞的这些作用可被敲低的 Klotho逆转( P<0.05)。另外, miR-199a-5p负靶向调控,Klotho表达(P<0.05)。结论抑制 miR-199a-5p通过靶向 Klotho减轻氧化应激和炎症反应来改善 OGD/R诱导的 PC12细胞损伤。 相似文献
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《European journal of medical genetics》2022,65(11):104609
BackgroundGastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors.ObjectivesEvaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations.MethodsCohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department.ResultsEight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives).ConclusionsAlthough currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations [c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*)] have been associated with family aggregation of abdominal tumors in NF1 patients. 相似文献
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The purpose of this work was to expound on the postulated pathological mechanisms through which pheochromocytoma/paraganglioma (PPGL) can cause seizures by conducting a comprehensive review of ten cases and several pathogenic mechanisms. The goal was to enhance awareness amongst doctors and researchers about patients with PPGL presenting with seizures. This would help decrease the risk of misdiagnosis and mismanagement in future clinics. Additionally, this review was written with the purpose to attract more attention to etiological explorations, particularly concerning rare causes of seizures, which is consistent with the idea that League Against Epilepsy (ILAE) has emphasized in the new version of the ILAE position paper published in 2017. It is of great importance to keep in mind the fact that seizures can constitute an atypical presentation of PPGL and to establish early diagnosis and accurate cure for these patients, especially in the presence of paroxysmal hypertension or other suggestive symptoms of PPGL. 相似文献
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Succinate Dehydrogenase Complex Iron Sulfur Subunit B (SDHB) Immunohistochemistry in Pheochromocytoma,Head and Neck Paraganglioma,Thoraco-Abdomino-Pelvic Paragangliomas: Is It a Good Idea to Use in Routine Work? 下载免费PDF全文
Aylin Ege GulSevinc Hallac KeserNagehan Ozdemir BarisikYesim Saliha GurbuzSibel SensuNusret Erdogan 《Asian Pacific journal of cancer prevention》2021,22(6):1721-1729
Background: In this study, we aimed to detect Succinate Dehydrogenase Complex Iron Sulfur Subunit B (SDHB) frequency in paragangliomas and pheochromocytomas (PPGL) with immunohistochemistry; compare with Pheochromacytoma of the Adrenal Gland Scaled Score (PASS) classification and analyse the differences between pheochromocytoma (Pheo), head-neck paragangliomas (HNPGL) and thoraco-abdominal-pelvic paraganglioma (TAPPGL) sub-groups. Methods: A total 114 PPGL cases (73 HNPGL, 15 TAPPGL and 27 Pheo belonging to 112 cases) are included. Immunohistochemically, SDHB and Ki-67 are investigated and malignancy risks are determined by PASS classification. Results are assessed statistically with chi-square test and p <0,01 is considered significant.Results: SDHB mutations are observed in 20 of 114 (17.54 %) PPGL cases, 3 (11,12%) of which is Pheo, 12 (16,44) is HNPGL, and 5 (35,71%) is TAPPGL (P <0,02). While 15/82 (18,29%) cases with SDHB mutations do not have a malignancy potential according to PASS classification, 5/32 (15,63%) cases has (p=0,73). TAPPGL, HNPGL and Pheo sub-groups have a significant difference between SDHB expression (p <0,02), malignancy potential according to PASS classification (p <0,0001) and Ki-67 proliferation index (p <0,0001). Conclusion: To identify patients for molecular pathological examination, routine application of SDHB immunohistochemistry to PPGL tumors are suggested especially in HNPGLs. 相似文献
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