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21.
Wang Tao Liang Zhihou Sun Shenggang Cao Xuebing Peng Hai Cao Fei Liu Hongjin Tong E-tang 《华中科技大学学报(医学英德文版)》2003,23(2):145-147
Summary To investigate the distribution of possible novel mutations from parkin gene in variant subset of patients with Parkinson’s
disease (PD) in China and explore whether parkin gene plays an important role in the pathogenesis of PD, 70 patients were
divided into early-onset group and late-onset group; 70 healthy subjects were included as controls. Genomic DNA from 70 normal
controls and from those of PD patients were extracted from peripheral blood leukocytes by using standard procedures. Mutations
of parkin gene (exon 1–12) in all the subjects were screened by PCR-single strand conformation polymorphism (SSCP), and further
sequencing was performed in the samples with abnormal SSCP results, in order to confirm the mutation and its location. A new
missense mutation Gly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 patients were
found. All the DNA variants were sourced from the samples of the patients with early-onset PD. It was concluded that Parkin
point mutation also partially contributes to the development of early-onset Parkinson’s disease in Chinese.
WANG Tao, male, born in 1961, Associate Professor
This work was supported by grants from the key program of the special scientific project of Scientific & Technologic Agency
of Hubei Province (Serial No. 2001AA308B01) and the Hygienic Research Project of Hygienic Agency of Hubei province (Serial
No. WJ 01529). 相似文献
22.
慢性乙型肝炎表面抗原携带者前S1基因的高度异质性 总被引:1,自引:0,他引:1
应用半巢式聚合酶链式反应(PCR)从一例慢性HBsAg携带者血清中扩增出HBV前S1基因,将其克隆于噬菌体M13mp19中进行序列分析。结果发现:与同源性最好的HBVadr野生林相比,所测的10个克隆均有替代和插入突变,9个克隆有缺失突变,10个克隆的核苷酸变异率为5.0%-17.0%,氨基酸的变异率为13.0-60.0%;10个克隆之间的核苷酸变异率为2.3%-24.3%,氨基酸的变异率为14. 相似文献
23.
应用非同位素标记PCR-SSCP技术对34例大肠癌组织p53基因第五外显子突变进行了检测。结果:50%(11/22)结肠癌,8.3%(1/12)直肠癌存在p53基因突变,低分化腺癌高于高、中分化腺癌(P<0.05),DukesB、C期高于DukesA期(P<0.05),p53基因第五外显子突变在已发生淋巴转移的大肠癌组织中呈现较强的趋势。提示:检测结肠癌原发灶p53基因第五外显子突变,对指导结肠癌的诊断、治疗及预后判断具有一定意义 相似文献
24.
Multiplex PCR analysis of in vivo-arising deletion mutations in the hprt gene of human T-lymphocytes
James C. Fuscoe Lisa J. Zimmerman Karen Harrington-Brock Martha M. Moore 《Environmental and molecular mutagenesis》1994,23(2):89-95
A multiplex polymerase chain reaction (PCR) procedure was adapted for the rapid and efficient evaluation of deletions of the hypoxanthine guanine phosphoribosyltransferase (hprt) gene in human T-lymphocytes. The hprt clonal assay was used to isolate in vivo-arising hprt-deficient T-cells from six healthy males. Mutant frequencies ranged from 9-27 × 10?6. Simple crude cellular extracts from 223 mutants were analyzed for hprt gene deletion. Sixteen (7.2%) were found to be due to total gene deletion and 22 (9.9%) were due to partial gene deletion. The relatively high frequency of total gene deletions was caused by replicate isolates of a single mutational event as shown by single-strand conformation polymorphism (SSCP) analysis of rearranged T-cell receptor (TCR)-γ genes. Eighteen of the 22 partial hprt gene deletion mutants were determined to be of independent origin based on a unique hprt mutation or SSCP-TCR-γ pattern. One-half (9/18) of the partial deletion mutants involved all or part of exon 4 alone, suggesting that this region of the hprt gene is prone to deletion. The small deletions effecting exon 1 (1 mutant), exon 2 (2 mutants), and exon 4 (6 mutants) would not have been detected by conventional Southern blot analysis and may represent a new, previously unrecognized class of mutations. The ready isolation of such intragenic deletions will allow the characterization of breakpoint junctions and may provide insights into the important processes of DNA breakage and rejoining. © 1994 Wiley-Liss, Inc. 相似文献
25.
目的:探讨GPC4基因与中国山东Smith-Fineman-Myers综合征(SFMS)的关系,并分析SFMS患者GPC4基因突变。方法:利用primer3设计扩增GPC4全部编码序列及内含子和外显子接头序列的引物,采用PCR扩增结合PCR产物直接测序方法检测GPC4基因开放性阅读框架区域基因突变。结果:在GPC4基因开放性阅读框架区域内并未检测到导致疾病的基因突变。结论:山东SFMS家系患者不是由于GPC4基因编码区域基因突变所致。 相似文献
26.
A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations 总被引:3,自引:0,他引:3
M. Al Jumah R. Majumdar S. Al Rajeh A. Awada A. Al Zaben I. Al Traif A. R. Al Jumah Z. Rehana 《European journal of neurology》2004,11(2):121-124
Wilson disease (WD) is a hereditary disorder, with recessive transmission and genetic heterogeneity. Several mutations of ATP7B, the gene underlying WD, were reported in many ethnic groups. In this study, mutation screening in ATP7B of 56 Saudi Arabian WD patients was undertaken. The clinical data of all patients were recorded. The entire ATP7B coding sequence, including intron-exon boundaries were screened for mutation by the polymerase chain reaction (PCR)-based mutation detection technique and DNA sequencing. Thirty-nine patients were symptomatic at presentation and 17 subjects were pre-symptomatic siblings of affected patients. Fourteen patients had neurological, 11 patients had mixed (hepatic and neurological), and 14 patients had hepatic presentations. Family history suggestive of WD was present in 72% of cases and 68% had consanguineous parents. Genetic analysis showed disease-causing mutations in three exons (exons 8, 19 and 21) of the ATP7B gene in 28 patients (50%). Mutations in exons 21 (18 cases) and 19 (one case) were unique for Saudis. This large series of Saudi patients with WD has shown wide variability in the genomic substrate of WD. There is no correlation between genotype and clinical presentation. 相似文献
27.
目的:建立简便、灵敏的HBV DNA序列中BCP双突变点的检测方法.方法:采用终点终止法和偏振光检测技术进行点突变的检测.首先对HBV C区基因进行PCR扩增,然后用特异探针与扩增产物中待测核苷酸的下游序列杂交,使探针的3’端可以在DNA聚合酶的催化下,依据其互补链上的待测核苷酸连接上一个标有特定荧光素的ddNTP,然后检测该3’端带有荧光素的探针,根据检测到的荧光素种类和偏振光的强度可以判定待测点是何种核苷酸.结果:该方法可以检测出HBV基因序列中BCP双突变核苷酸类型以及检测1个拷贝的模板,并且可以从BCP野性株DNA序列中检出5%BCP双突变DNA序列.结论:该技术可以检测血清中HBV DNA C区BCP双突变. 相似文献
28.
Sofya N Pchelina Andrei F Yakimovskii Olga N Ivanova Anton K Emelianov Andrei H Zakharchuk Alexander L Schwarzman 《Movement disorders》2006,21(12):2234-2236
Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group. 相似文献
29.
Inhibition of hepatitis B virus DNA replicative intermediate forms by recombinant interferon-γ 总被引:1,自引:0,他引:1
AIM: To evaluate the in vitro anti-HBV activity of recombinant human IFN-γ, alone and in combination with lamivudine. METHODS: A recombinant baculovirus-HBV/HepG2 culture system was developed which could support productive HBV infection in vitro. Expression of HBsAg and HBeAg in infected HepG2 culture medium was detected by commercial enzyme immunoassays. HBV DNA replication intermediates were detected in infected cells by Southern hybridization and viral DNA load was determined by dot hybridization. RESULTS: IFN-γat 0.1 to 5μg/L efficiently down regulated HBsAg expression in transduced HepG2 cells. At 5μg/L, IFN-γalso suppressed HBV DNA replication in these cells. While treatment with a combination of lamivudine and IFN-γshowed no additive effect, sequential treatment first with lamivudine and then IFN-γwas found to be promising. In this culture system the best HBV suppression was observed with a pulse of 2μmol/L lamivudine for two days, followed by 1μg/L IFN-γfor another four days. Compared to treatment with lamivudine alone, the sequential use of 0.2μmol/L lamivudine for two days, followed by 5μg/L IFN-γfor six days showed a 72% reduction in HBV cccDNA pool. CONCLUSION: This in vitro study warrants further evaluation of a combination of IFN-γand lamivudine, especially in IFN-αnon-responder chronic hepatitis B patients. A reduced duration of lamivudine treatment would also restrict the emergence of drug-resistant HBV mutants. 相似文献
30.
从1985年4月到1986年4月对361名孕妇进行的乙型肝炎流行病学横断面研究以及196名产妇一年随访研究的结果表明,361例孕妇的HBsAg阳性率为2.5%,抗-HBs阳性率为23.8%,抗-HBc阳性率为22.1%,HBV总感染率为31.3%;抗-HBs阳性、抗-HBs和抗-HBc共存阳性者占总阳性者的76.1%,说明人群感染HBV后大多产生了免疫力.1986年4月复查了196例产妇,133名在1985年HBV标记阴性者中有6人获得了HBV标记,HBV新感染率为4.5%;1例为急性乙型肝炎病人,5例为亚临床感染.HBV新感染者的感染途径不明,但医源性传播不能排除.1986年检查的148对夫妇中,男性HBsAg阳性率是女性的3.1倍(6.1%对2.0%),男性单独抗-HBc阳性率是女性的2.3倍(6.1%对2.7%),抗-HBs、抗-HBs和抗-HBc共存以及HBV感染率男女性间都无显著差异. 相似文献