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41.
Andreas Büttner Bilge Bavbek Peter A. Winkler Parviz Mehraein Serge Weis 《Neuropathology》1997,17(2):94-100
The clinical, radiological, and pathological features in 10 cases of ganglioglioma are described. The clinical data were derived from the patients' medical records, including a review of the age, sex, details of the presenting symptoms, radiological imagings, surgical intervention, and the clinical outcome. Age ranged from 1 to 66 years (mean 29); there were five males and five females. The tumors were located in the fronto-medial, bifrontal, temporal, temporo-basal, temporo-parieto-occipital, and parietal lobes; the 3rd ventricle; the cervicothoracic spinal cord; and the conus medullaris. The presenting symptoms were focal seizures, headaches, hemiparesis, paraparesis, and tetraparesis. In four patients, gross total resection was achieved and in the remaining six patients only subtotal resection was possible. Tumor recurrence occurred in three patients, 1 year, 14 months, and 2 years after the first operation. The histopathologic appearance of gangliogliomas showed a broad variation of the neuronal, glial, and stromal component. Studying proliferation characteristics, labeling for Ki-67 ranged from 0 to 13.7% (mean 4.1) and for PCNA from 0 to 32.1% (mean 20.4). Due to their favorable prognosis, early recognition and correct diagnosis are important in order to avoid progressive neurological deficits and unnecessary aggressive therapy. The application of immunohistochemistry for both neuronal (synaptophysin, NSE, NFP) and astrocytic (GFAP) cell markers, as well as proliferation markers, are recommended in the diagnostic setting for gangliogliomas. The treatment of choice is total surgical resection. The role of radio- and chemotherapy is still controversial. 相似文献
42.
尖锐湿疣中乳头瘤病毒感染与P53和ki-67表达的关系 总被引:2,自引:0,他引:2
目的 探讨尖锐湿疣中乳头瘤病毒 (HPV)感染与 P5 3和 ki- 6 7的关系。 方法 采用免疫组织化学方法对 82例尖锐湿疣的 HPV感染、P5 3和 ki- 6 7的表达进行观察。 结果 HPV阳性者 2 4例 (2 9.3% ) ,P5 3阳性表达 2 0例 (2 4 .4 % ) ,ki- 6 7阳性表达 2 1例 (2 5 .6 % )。2 4例 HPV阳性者中 ,P5 3阳性表达 10例 (41.7% ) ,ki- 6 7阳性表达 11例 (45 .8% ) ,经关联分析 ,皮损中 HPV感染与 P5 3(χ2 =4 .2 4 7,P<0 .0 5 )和 ki- 6 7(χ2 =5 .6 8,P<0 .0 5 )阳性表达均有显著关联 ;而 P5 3与 ki- 6 7两者均阳性者仅有 6例 (χ2 =0 .98,P>0 .0 5 ) ,无明显关联。 结论 在尖锐湿疣中 HPV感染伴随 P5 3和 ki- 6 7表达的增加 相似文献
43.
毛细管电泳技术快速检测p53基因点突变 总被引:1,自引:0,他引:1
目的:探讨利用毛细管电泳技术快速检测p53基因点突变的临床应用价值。方法:采用毛细管电泳作SSCP分析,检测20例结肠癌肿瘤标本p53基因第7外显子PCR扩增产物,并与传统的聚丙烯酰胺凝胶电泳结果进行比较,最后用DNA序列测定判断其准确性。结果:20例结肠癌标本中,毛细管电泳技术检测出5例标本(Ca4,Ca6,Ca7,Ca8,Ca14)有突变,而凝胶电泳结合银染技术仅检出4例标本(Ca4,Ca6,Ca7,Cal4)有突变,测序证实经毛细管电泳所检出的5例标本均存在点突变。结论:对于PCR产物的单链构象多态性分析,毛细管电泳技术是一种更加快速、简便、敏感的方法,可应用于临床筛查基因点突变。 相似文献
44.
本文采用中和试验、沉降反应和解离试验对135例已知血型人精液中ABH血型物质的分泌强度进行了检验,并将其分为强、中、弱三型。这对区别个人血型物质含量及性犯罪的法医学鉴定均有重要意义。并证明了AB型人精液中A、B血型物质含量不均等现象,并且绝大多数人B型物质高于A型物质。 相似文献
45.
《Movement disorders》2003,18(11):1240-1249
The identification of disease genes using family‐based approaches has provided important insights into the pathogenesis of Parkinson's disease (PD) demonstrating the importance of genetic studies on monogenic forms of the disease. We studied a large Cuban family with typical, late‐onset PD and probable autosomal dominant inheritance. Mean age at onset was 61.2 years (±12.53, 45–76). Other phenotypes such as essential tremor and atypical parkinsonism were observed in this family. We carried out a genome‐wide scan and linkage analyses. The genetic data were analyzed using a conservative model in which only patients with clinically definite or likely PD were considered affected, other phenotypes were regarded as “unknown.” Multipoint analyses yielded a maximum LOD of 2.26 between markers D19S221 and D19S840. Haplotype analysis showed a region on chromosome 19 shared by six of seven PD patients. The essential tremor phenotype and the atypical parkinsonism do not segregate with this haplotype, suggesting a different etiology. Our findings suggest the presence of a novel locus for PD on chromosome 19p13.3–q12. We propose that an oligogenic model with moderate contribution of two or three genes rather than a “pure” monogenic model might explain better the wide range in age at onset, the reduced penetrance and the phenotypical variability observed in PD families. © 2003 Movement Disorder Society 相似文献
46.
48例非霍奇金淋巴瘤中的p53基因突变 总被引:1,自引:0,他引:1
采用ABC和PCR-SSCP法在48例NHL中研究p53基因外显子5~8中发生突变的类型、频率与突变型p53蛋白的表达以及它们与病理分型、恶性程度的相关性。结果:突变型p53蛋白在NHL中的阳性率为41.7%,其中在弥漫型大细胞性淋巴瘤(DLCL)为75%,在非DLCL为35%,两者差异显著(P<0.05);在p53蛋白表达阳性的NHL中PCRSSCP阳性主要见于DLCL,检出率为15%,在非DLCL中PCR-SSCP均为阴性(P<0.05)。表明国人NHL,尤其在恶性程度很高的DLCL中存在p53基因突变,各型NHL都有不同程度的突变型p53蛋白表达 相似文献
47.
癌基因c-fos、c-jun蛋白在鳞状细胞癌皮损中的表达及意义 总被引:3,自引:0,他引:3
目的 探讨癌基因c fos、c jun的表达与皮肤鳞癌发生和发展的关系。 方法 采用免疫组化法对 6 0例皮肤鳞癌的c fos、c jun的表达情况进行检测 ,并与正常皮肤组织进行对照。 结果 c fos、c jun在正常皮肤组织不表达 ,在皮肤鳞癌中的表达阳性率分别为 6 1.7%和 4 8.3% ,其表达水平与癌组织的分化程度有关 (P <0 .0 5 ) ,肿瘤的分化程度越高其表达水平越高。 结论 c fos、c jun的表达水平可作为判定皮肤鳞癌分化的指标。 相似文献
48.
S H Jee S Y Won J E Yun J E Lee J S Park S S Ji 《International journal of gynaecology and obstetrics》2004,85(3):301-308
OBJECTIVES: Although some studies have reported that the arginine isoform on codon 72 of p53 increases the susceptibility to invasive cervical cancer, such data remain controversial. The objective of this study was to quantitatively summarize the evidence for such a relationship. METHODS: Our data sources consisted of a MEDLINE search of the literature published before December 2002, bibliography review, and expert consultation. Thirty-seven studies met the inclusion criteria. Information on sample size, study design, Hardy-Weinberg equilibrium, and method of genotype determination was abstracted by two reviewers using a standardized protocol. The overall odds ratio (OR) of the p53 gene on invasive cervical cancer was estimated using the Mantel-Haenzel method. RESULTS: The overall OR (95% confidence interval) for cervical cancer among those with the homozygous mutant (Arg/Arg) was 1.2 (1.1-1.3, P=0.001) compared with those with the heterozygous mutant (Arg/Pro). By a cellular type of cervical cancer, the overall OR among those with Arg/Arg was statistically significant in adenocarcinomas (1.7, 1.1-2.6, P=0.024), but not in squamous cell carcinomas (1.1, 0.9-1.2, P=0.960), compared with Pro/Pro. Compared with Arg/Pro, the OR among those with Arg/Arg was statistically significant in HPV types 16 (1,5, 1.2-2.0, P=0.002). CONCLUSIONS: Overall, the p53 gene was associated with increased risk for invasive cervical cancer. However, the risk varied by country, cellular, and HPV type. 相似文献
49.
检测25例脑肿瘤中抑制癌基因P53突变情况。突用复合PCR,聚合酶链反应-=单链构象多态性分析法,统计学处理采用X^2检验。结果:P53基因总的突变率为44.0%,其中第5外显子突变率为28.0%,第6外显子突变率12.0%,第7外显子突变率为12.0%,第8外显子突变率16.0%;病理分级Ⅱ级及其以上突变为72.7%, 相似文献
50.
石棉相关肿瘤p53基因突变的免疫组化及PCR—SSCP研究 总被引:3,自引:0,他引:3
为了分析石棉相关肿瘤p53基因的突变特点,对石蜡包埋的石棉相关肿瘤p53基因突变体蛋白的表达进行了免疫组化观察,提取染色体DNA,对p53基因的第5、7、8外显子进行PCR-SSCP及测序分析。免疫组化观察发现:在分析的10例病例中有5例阳性。PCR-SSCP分析发现7例(8处)发生突变,其中4处集中在第8外显子上。5例腺癌中有4例发生p53基因突变。测序发现热点区突变。提示:石棉相关肿瘤p53基因突变率高。 相似文献