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Rationale:Nonconvulsive status epilepticus (NCSE) is a heterogeneous disease with multiple subtypes. NCSE poses great diagnostic and therapeutic challenges due to the lack of typical symptoms. Here, we report a case of NCSE manifesting as rapidly progressive dementia (RPD) and infarction in the splenium of the corpus callosum. Additionally, the relevant literature was reviewed.Patient concerns:A 63-year-old man presented with RPD. Electroencephalogram (EEG) revealed NCSE, and brain magnetic resonance imaging (MRI) showed an isolated infarction in the splenium of the corpus callosum. Mini-mental state examination showed moderate cognitive impairment (14/30 points).Diagnosis:A diagnosis of NCSE with RPD and infarction in the splenium of the corpus callosum was made.Interventions:The patient was treated with intravenous diazepam (10 mg), oral levetiracetam (1.0g twice daily), oral sodium valproate (0.2g twice daily), and intramuscular phenobarbital sodium (0.2g once daily).Outcomes:After the treatment, the symptoms were improved. The patient could answer questions. Repeated EEG showed that the background a rhythm was slightly overdeveloped, and no clinical or electrical seizures were observed. After discharge, the patient was treated with oral levetiracetam (1.0g twice daily) and oral sodium valproate (0.2g twice daily) for 6 months. At the last follow-up, the patient had clear consciousness, sensitive response, and fluent answering ability. Repeated mini-mental state examination showed that his cognitive function was significantly improved (28/30 points); nevertheless, the lesion in the splenium of corpus callosum remained unchanged on MRI.Lessons:NCSE manifesting as RPD and infarction in the splenium of the corpus callosum is extremely rare. Epileptic events and focal infarction are usually overlooked in patients with dementia, and the diagnostic value of MRI and EEG should be highlighted 相似文献
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在哺乳动物卵巢中,黄体是一个重要的内分泌组织,在生殖周期调控与早期妊娠建立的过程中具有举足轻重的作用。在研究黄体发育及其分子调控过程中,我们发现多种类型的免疫细胞存在于黄体,如T淋巴细胞、巨噬细胞、中性粒细胞和嗜酸性粒细胞。这些免疫细胞在黄体发育阶段中积累、支持血管生成和孕激素生产,从而参与黄体功能调节。在黄体退化过程中,前列腺素F2α可以刺激细胞炎性因子和趋化因子的产生,这些因子使免疫细胞进入黄体,并通过炎症反应,增强黄体分解,参与黄体退化过程。因此,本文根据课题组前期研究结果,综述了不同类型的免疫细胞在哺乳动物黄体发育及退化过程中的作用,旨在进一步理解卵巢黄体生物学,同时为临床黄体功能操控提供参考。 相似文献
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Keiko Yamamoto‐Shimojima Taichi Imaizumi Hiroyuki Akagawa Hitoshi Kanno Toshiyuki Yamamoto 《American journal of medical genetics. Part A》2020,182(3):521-526
Primrose syndrome is a congenital malformation syndrome characterized by intellectual disability, developmental delay, progressive muscle wasting, and ear lobe calcification. Mutations in the ZBTB20 gene have been established as being accountable for this syndrome. In this study, a novel de novo ZBTB20 mutation, NM_001164342.2:c.1945C>T (p.Leu649Phe), has been identified through whole exome sequencing (WES) in a female patient presenting a typical Primrose phenotype. Because the present patient exhibited recurrent otitis media, detailed immunological examinations were performed in this study and subnormal immunoglobulin levels were firstly identified in a Primrose patient. Anatomical anomaly of the inner ear has never been reported in this patient and WES data did not include any relevant variants causally linked with the immunologic defect. Thus, there is a possibility of a relation between an unclassified immunodeficiency with selective IgG2 deficiency and Primrose syndrome and this may be the reason of recurrent otitis media frequently observed in Primrose patients. Because subnormal levels of IgG2 in this patient might be caused by an unrelated and still uncharacterized genetic cause, further studies are required to prove the causal link between aberrant ZBTB20 function and immunodeficiency. 相似文献
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《European journal of medical genetics》2020,63(4):103776
Chromoanagenesis represents an extreme form of genomic rearrangements involving multiple breaks occurring on a single or multiple chromosomes. It has been recently described in both acquired and rare constitutional genetic disorders. Constitutional chromoanagenesis events could lead to abnormal phenotypes including developmental delay and congenital anomalies, and have also been implicated in some specific syndromic disorders. We report the case of a girl presenting with growth retardation, hypotonia, microcephaly, dysmorphic features, coloboma, and hypoplastic corpus callosum. Karyotype showed a de novo structurally abnormal chromosome 14q31qter region. Molecular characterization using SNP-array revealed a complex unbalanced rearrangement in 14q31.1-q32.2, on the paternal chromosome 14, including thirteen interstitial deletions ranging from 33 kb to 1.56 Mb in size, with a total of 4.1 Mb in size, thus suggesting that a single event like chromoanagenesis occurred. To our knowledge, this is one of the first case of 14q distal deletion due to a germline chromoanagenesis. Genome sequencing allowed the characterization of 50 breakpoints, leading to interruption of 10 genes including YY1 which fit with the patient's phenotype. This precise genotyping of breaking junction allowed better definition of genotype-phenotype correlations. 相似文献
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目的研究β-石竹烯(β-caryophyllene,BCP)对小鼠脑缺血/再灌注(cerebral ischemia-reperfusion,CIR)白质损伤的保护作用。方法随机将C57BL/6小鼠分为正常对照组(Control)、模型组(CIR)、治疗组(36、72、144 mg·kg^-1)。线栓法建立小鼠大脑中动脉栓塞(middle cerebral artery oc-clusion,MCAO)模型。缺血1 h,再灌注24 h,TTC染色确定脑梗死体积,并进行神经行为学评分;干湿重法测脑含水量;HE染色及透射电镜观察胼胝体损伤情况;Luxol Fast Blue(LFB)染色标记脑神经髓鞘;Western blot测胼胝体髓鞘碱性蛋白(mbp)、神经丝蛋白(NF)、Bcl-2、Bax和caspase-3的表达。结果与模型组比较,BCP可降低神经行为学评分,减小脑梗死体积,减轻脑水肿和胼胝体髓鞘损伤,升高髓鞘染色光密度(optical density,OD),上调mbp、NF、Bcl-2表达,降低Bax和caspase-3表达。结论BCP对小鼠脑缺血/再灌注白质损伤有保护作用,可能与Bax/Bcl-2凋亡通路有关。 相似文献
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