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11.
Watanabe O Tamari M Natori K Onouchi Y Shiomoto Y Hiraoka I Nakamura Y 《Journal of human genetics》2001,46(4):221-224
The NOA (Naruto Research Institute Otsuka Atrichia) mouse is an animal model of allergic or atopic dermatitis, a condition
characterized by ulcerative skin lesions with accumulation of mast cells and increased serum IgE. We reported earlier that
a major gene responsible for dermatitis in the NOA mouse lay in the middle of chromosome 14, and that the incidence of disease
clearly differed according to parental strain; the mode of inheritance was autosomal recessive with incomplete penetrance.
In the study reported here, we searched for genes that might modify the NOA phenotype, and we identified two candidate loci
that appeared to contain genes capable of modifying atopic or allergic dermatitis, one in the middle of chromosome 7 (χ2 = 14.66; P = 0.00013 for D7Mit62) and the other in the telomeric region of chromosome 13 (χ2 = 15.352; P = 0.000089 for D13Mit147). These loci correspond to regions of synteny in human chromosomes where linkages to asthma, atopy,
or related phenotypes, such as serum IgE levels, have been documented.
Received: December 18, 2000 / Accepted: January 19, 2001 相似文献
12.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. The prevalence of the
ADPKD genotype in the Caucasian and Latin populations has been reported. Here, we used linkage analysis to demonstrate the
prevalence of the genotype and the correlation between phenotypes and genotypes among 21 Japanese ADPKD families consisting
of 96 individuals and including 57 affected members. Six polymorphic markers, each linked to either the polycystic kidney
disease 1 (PKD1) or polycystic kidney disease 2 (PKD2) gene, were used for polymerase chain reaction analysis. Seventeen families (81%) showed linkage to PKD1, two families (10%) showed linkage to PKD2, and two families did not show linkage to either PKD1 or PKD2. One of the PKD1-linked families was indicated to have different mutations of PKD1 gene in the same family. PKD2-linked families did not have milder symptoms than PKD1-linked families.
Received: October 9, 2001 / Accepted: November 9, 2001 相似文献
13.
采用位于α3′HVR同侧与成人型多囊肾病基因(PKD1)更加接近的pGGG1及另一侧的24-1和218EP6等探针对正常人基因组DNA进行限制性片段长度多态性(RELP)分析,分别检测各等位片段的频率,在此基础上,应用这三个基因探针与3′HVR一起对2个成人型多囊肾病家系成员进行单体型分析,在这2个家系中,5个APKD患者的RFLP单体型被证明与PKD1基因相连锁,发现一个重组体,并检测出二个症状前个体。 相似文献
14.
Ohashi J Naka I Patarapotikul J Hananantachai H Brittenham G Looareesuwan S Clark AG Tokunaga K 《Journal of human genetics》2005,50(1):7-11
A binding site for the repressor protein BP1, which contains a tandem (AT)x(T)y repeat, is located approximately 530 bp 5 to the human -globin gene (HBB). There is accumulating evidence that BP1 binds to the (AT)9(T)5 allele more strongly than to other alleles, thereby reducing the expression of HBB. In this study, we investigated polymorphisms in the (AT)x(T)y repeat in 57 individuals living in Thailand, including three homozygotes for the hemoglobin E variant (HbE; 26Glu->Lys), 22 heterozygotes, and 32 normal homozygotes. We found that (AT)9(T)5 and (AT)7(T)7 alleles were predominant in the studied population and that the HbE variant is in strong linkage disequilibrium with the (AT)9(T)5 allele, which can explain why the E chain is inefficiently synthesized compared to the normal A chain. Moreover, the mildness of the HbE disease compared to other hemoglobinopathies in Thai may be due, in part, to the presence of the (AT)9(T)5 repeat on the HbE chromosome. In addition, a novel (AC)n polymorphism adjacent to the (AT)x(T)y repeat (i.e., (AC)3(AT)7(T)5) was found through the variation screening in this study.MIM and accession numbers and URLs for data presented herein are as follows: Online Mendelian Inheritance of Man (OMIM), (for HBB [MIM 141900]). GenBank, (accession number [NG_000007.2] reference sequence information). 相似文献
15.
Xia J Deng H Feng Y Zhang H Pan Q Dai H Long Z Tang B Deng H Chen Y Zhang R Zheng D He Y Xia K 《Journal of human genetics》2002,47(12):0635-0640
Hearing impairment is an extremely heterogeneous disorder. A total of 35 loci and 17 related genes for autosomal dominant
nonsyndromic hearing loss have been identified. In a Chinese pedigree characterized by autosomal dominant inheritance with
bilateral, postlingual, progressive, and sensorineural nonsyndromic hearing impairment, the putative disease gene locus was
localized to chromosome 5q31.1-32 by a genome-wide scan. Fine mapping indicated that the disease gene was located within an
8.8-cM region between markers D5S2056 and D5S638, with a maximum two-point logarithm of differences (LOD) score of 6.89 (θ = 0) at D5S2017. By the candidate gene approach, mutation screening of the DIAPH1 and POU4F3 genes at 5q31 was performed. No mutation was found, suggesting that this is a novel deafness locus, which has been named
DFNA42.
Received: May 8, 2002 / Accepted: October 1, 2002 相似文献
16.
Genomewide scan, as shown by recently published linkage studies on the behavior of mice or in psychiatry, provides evidence for replicated quantitative trait loci (QTL). Several studies of Alzheimer's disease have demonstrated the promise of moving from clinical diagnoses to biological signs for psychiatric investigations. Empirical studies also demonstrate that genetic background, differences in environment, epistatic effects, and definition of the phenotype (including psychiatric diagnosis) all actively contribute to limit the duplication of QTL. 相似文献
17.
18.
Locating human quantitative trait loci: Guidelines for the selection of sibling pairs for genotyping
Simulation studies were conducted to assess the relative merits of different nonrandom sampling strategies for the selection of sibling pairs for genotyping in the attempt to locate individual loci (QTLs) contributing to variation in human quantitative traits. For a constant amount of variation contributed by a QTL (25% of the total) the frequencies and dominance relationships of a trait increasing allele were varied. Three strategies for selection of pairs for genotyping were based on the phenotypic values of the siblings: Concordant sib pairs (CSP) are pairs in which both individuals exceed a given threshold value; discordant sib pairs (DSP) are pairs in which one member exceeds a given upper threshold and the other is below a specified lower threshold; and most similar pairs (MSP) are pairs selected for falling below a specified percentile ranking of the within-pair mean square for the quantitative trait. Tests for linkage with markers at 1, 2, 5, 10, and 20 cM from each of the QTLs were conducted for each of the selected samples and compared with tests based on the regression, in the entire sample, of within pair variation on the proportion of alleles identical by descent (IBD) at each marker locus. Tests for the effect of the increasing allele at the QTL (candidate gene) were also conducted for the DSP pairs. No single nonrandom selection procedure yields as much as half the information realized in the total sample. However, a combined strategy which involves genotyping the 5% of MSP and DSP for the upper and lower quintiles of values of the quantitative trait (a further 3% of the sample approximately) yields lod scores which are usually more than 65% of the values realized for the entire sample. Tests comparing the proportion of increasing alleles in high- and low-scoring siblings from DSP samples are uniformly very powerful for detecting candidate loci. Even when it is not possible to measure the entire range of the phenotype with uniform precision, some attempt to differentiate among individuals in a common unaffected class of individuals can lead to considerable increase in power. 相似文献
19.
P. Platz B. K. Jakobsen A. Svejgaard B. S. Thomsen K. B. Jensen K. Henningsen L. U. Lamm 《Diabetologia》1982,23(1):16-18
Summary Studies with 20 different genetic marker systems were performed in a large kindred including 18 members affected with maturity onset type of diabetes of young people. Linkage closer than 0.1 could be excluded for ABO and Gm, and linkage closer than 0.05 for HLA GLO, and haptoglobin. No significant positive lod scores were found. 相似文献
20.
Gene mapping of SEZ group genes and determination of pentylenetetrazol susceptible quantitative trait loci in the mouse chromosome 总被引:1,自引:0,他引:1
Wakana S Sugaya E Naramoto F Yokote N Maruyama C Jin W Ohguchi H Tsuda T Sugaya A Kajiwara K 《Brain research》2000,857(1-2):286-290
Gene mapping of the newly discovered SEZ genes (seizure-related genes) in the mouse was performed by linkage analysis. SEZ6 was on chromosome 11, SEZ12 on chromosome 16, SEZ15 on chromosome 3 and SEZ17 (PTZ17) on chromosome 18. The mouse chromosomal locus related to high susceptibility to pentylenetetrazol (PTZ) was also determined by linkage analysis using the recombinant inbred mouse, BXD (C57BLxDBA). A significant level of PTZ susceptibility was found on chromosome 2. Chromosomal loci of the newly discovered SEZ genes were not coincident with the significant chromosomal loci to PTZ susceptibility. Since epilepsy is assumed to be a disease syndrome which is probably manifested by abnormal expression of multifocal genes, determination of the role of each chromosomal locus in the provocation of seizure activity is important. 相似文献