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排序方式: 共有469条查询结果,搜索用时 843 毫秒
51.
Bustamante-Aragonés A Rodríguez de Alba M Perlado S Trujillo-Tiebas MJ Arranz JP Díaz-Recasens J Troyano-Luque J Ramos C 《Gene》2012,504(1):144-149
Prenatal diagnosis (PD) is available for pregnancies at risk of monogenic disorders. However, PD requires the use of invasive obstetric techniques for fetal-sample collection and therefore, involves a risk of fetal loss. Circulating fetal DNA in the maternal bloodstream is being used to perform non-invasive prenatal diagnosis (NIPD). NIPD is a challenging discipline because of the biological features of the maternal blood sample. Maternal blood is an unequal mixture of small (and fragmented) amounts of fetal DNA within a wide background of maternal DNA. For this reason, initial NIPD studies have been based on the analysis of specific paternally inherited fetal tracts not present in the maternal genome so as to ensure their fetal origin. Following this strategy, different NIPD studies have been carried out, such as fetal-sex assessment for pregnancies at risk of X-linked disorders, RhD determination, and analysis of single-gene disorders with a paternal origin. The study of the paternal mutation can be used for fetal diagnosis of dominant disorders or to more accurately assess the risk of an affected child in case of recessive diseases. Huntington's disease, cystic fibrosis, or achondroplasia are some examples of diseases studied using NIPD. New technologies are opening NIPD to the analysis of maternally inherited fetal tracts. NIPD of trisomy 21 is the latest study derived from the use of next-generation sequencing (NGS). 相似文献
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I Ben Charfeddine FG Riepe E Clauser A Ayedi S Makni MT Sfar H Sboui N Kahloul H Ben Hamouda S Chouchane S Trimech N Zouari S M'rabet F Amri A Saad PM Holterhus M Gribaa 《Gene》2012,507(1):20-26
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease of steroid biosynthesis in humans. More than 90% of all CAH cases are caused by mutations of the 21-hydroxylase gene (CYP21A2), and approximately 75% of the defective CYP21A2 genes are generated through an intergenic recombination with the neighboring CYP21A1P pseudogene. In this study, the CYP21A2 gene was genotyped in 50 patients in Tunisia with the clinical diagnosis of 21-hydroxylase deficiency. CYP21A2 mutations were identified in 87% of the alleles. The most common point mutation in our population was the pseudogene specific variant p.Q318X (26%). Three novel single nucleotide polymorphism (SNP) loci were identified in the CYP21A2 gene which seems to be specific for the Tunisian population. The overall concordance between genotype and phenotype was 98%. With this study the molecular basis of CAH has been characterized, providing useful results for clinicians in terms of prediction of disease severity, genetic and prenatal counseling. 相似文献
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1. We assessed the relative importance of different scales of spatial and temporal variability on benthic macroinvertebrate assemblage structure in six unpolluted streams in monsoonal Hong Kong using ordination and complementary multivariate analyses. The spatial scales were regions, sites (streams) and sections (riffles) within sites. The temporal scales were years (three, including one with unusually high rainfall), seasons (dry versus wet) and days within seasons. 2. Significant differences in assemblage structure were manifested at all temporal scales. Those at the site scale were most obvious, whereas demarcation of assemblage structure at the section (riffle) scale was smaller, and there was no significant regional differentiation in assemblage structure. Seasonal variability in assemblage structure was greater than that among years or days. 3. Inter‐year differences in assemblage structure were recorded at all sites, and were noted among all years at some sites but not at others. They were recorded more frequently during the dry season, although their occurrence (in pair‐wise comparisons between years) appeared to be related to differences in the monsoonal (wet season) rainfall. 4. Seasonal differences in assemblage structure were strongly evident at all sites. Inter‐site differences were more apparent during the dry season when local (site‐scale) influences on assemblages were stronger. By contrast, wet‐season samples were more variable because of spate‐induced disturbance, and inter‐site differentiation was less distinct. 5. Differences among days at all sites were relatively minor, but shifts attributable to repeated spate‐induced disturbance were evident at some sites during the wet season. 6. Differences at the section scale were recorded more frequently during the dry season, when the extent of within‐site variability among sections was higher, reflecting increased patchiness within sections resulting from increased substratum heterogeneity and/or greater intensity of biotic interactions. 7. Seasonal shifts in macroinvertebrate assemblage structure at a variety of scales in Hong Kong streams are likely to be attributable to monsoonal rains affecting the relative intensity of abiotic disturbance and biotic interactions in accordance with the harsh‐benign hypothesis. 相似文献
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目的:观察分析经尿道前列腺电切(TURP)联合输尿管镜钬激光碎石术治疗前列腺增生症(BPH)合并膀胱结石的效果。方法:本组61例患者先行膀胱结石钬激光碎石,然后采用经尿道前列腺电切术(TURP)治疗前列腺增生症。结果:61例一次性治疗成功,术后结石无残留,排尿情况较前明显改善,IPSS评分均分由24.4分降到9.4分,最大尿流率由7.2 mL/s上升到19.5 mL/s。结论:钬激光碎石及TURP同期治疗前列腺增生合并膀胱结石是安全有效的方法。 相似文献
58.
研究了热作用下的良性前列腺增生(BPH)组织对532 nm的KTP和1064 nm的Nd:YAG激光的吸收和散射特性的变化及其差异,实验采用双积分球测量系统以及反向倍增法获取BPH组织的吸收和散射特性。结果表明:热作用下的BPH组织对532 nm和1064 nm的吸收系数和约化散射系数都是随着加热温度的变化而变化的,在20℃到80℃的温度范围内,BPH组织对532 nm的吸收系数和约化散射系数都分别显著地较其对1064 nm的吸收系数和约化散射系数要大,其对532 nm和1064 nm的吸收系数的最大值都在20℃,其值分别为1.663 mm-1和0.127 mm-1,最小值分别在50℃和70℃,其值分别为0.864 mm-1和0.034 mm-1,其对532 nm和1064 nm的吸收系数的最大差异在70℃,其值为2647%,其对532 nm和1064 nm的约化散射系数的最大值都在80℃,其值分别为2.036 mm-1和1.421 mm-1,最小值分别在50℃和70℃,其值分别为1.499 mm-1和0.246 mm-1,其对532 nm和1064 nm的约化散射系数的最大差异在70℃,其值为555%,在70℃的热作用下BPH组织达到完全热凝固,其对532 nm和1064 nm的吸收和散射特性的差异达到最大值。 相似文献
59.
BPH-1通过分泌PGE2上调前列腺间质细胞ERRα的表达 总被引:1,自引:1,他引:0
摘要 雌激素受体相关受体α(estrogen receptor-related receptor α,ERRα)是一类可以直接或间接参与雌激素应答反应的孤儿核受体,它与雌激素受体(estrogen receptor)在结构上有很强的同源性.雌激素效应在良性前列腺增生(benign prostatic hyperplasis,BPH)的发生和发展中起着重要的作用.通常,孤儿核受体的转录活性多受一些非经典激素如维生素A衍生物、前列腺素类、固醇的调控.本文研究前列腺上皮细胞分泌的活性因子对间质细胞ERRα表达调控的分子机制.收集前列腺增生上皮细胞系BPH-1和前列腺癌上皮细胞系DU-145的条件培养液(condition medium,CM)培养的间质细胞,采用实时定量RT-PCR和Western 印迹法检测前列腺间质细胞(prostate stromal cells,PrSCs)中ERRα的表达,筛选CM中影响ERRα表达的活性因子.研究结果显示,BPH-1的CM可以上调ERRα的表达,而DU-145的CM对ERRα的表达没有影响;BPH-1中合成前列腺素E2 (prostaglandin E2, PGE2)的限速酶——环氧合酶2(cyclooxygenase-2, COX-2)的mRNA表达水平和PGE2的分泌水平明显高于DU-145中COX-2表达水平和PGE2分泌水平;用经添加COX-2抑制剂NS-398的培养液处理BPH-1,其CM中PGE2的浓度明显下降,并失去了对ERRα表达的上调作用;添加PGE2可上调间质细胞中ERRα的表达.结果表明,BPH-1通过分泌PGE2促进间质细胞ERRa的表达,提示:在良性前列腺增生的发生和发展中,上皮细胞的旁分泌作用可促进间质细胞由ERRα介导的雌激素效应. 相似文献
60.
已经证明,前列腺特异性抗原(PSA)是一种有价值的前列腺癌(PCa)肿瘤标记物,血清PSA的广泛使用提高了前列腺癌的检出率,使晚期癌患得明显减少。然而,PSA对PCa的检测缺乏特异性,由于其高的假阳性率,引起许多不必要的活检。为了提高PSA对PCa诊断的特异性,降低不必要的活检,众多学正在探讨与PSA相关的几项参数的临床应用价值,本就此作一综述。 相似文献