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排序方式: 共有119条查询结果,搜索用时 203 毫秒
91.
Daniel S. Kim Amber A. Burt Jane E. Ranchalis Rebecca J. Richter Julieann K. Marshall Karen S. Nakayama Ella R. Jarvik Jason F. Eintracht Elisabeth A. Rosenthal Clement E. Furlong Gail P. Jarvik 《Journal of lipid research》2012,53(11):2450-2458
HDL-associated paraoxonase 1 (PON1) activity has been consistently associated with cardiovascular and other diseases. Vitamins C and E intake have previously been positively associated with PON1 in a subset of the Carotid Lesion Epidemiology and Risk (CLEAR) cohort. The goal of this study was to replicate these findings and determine whether other nutrient intake affected PON1 activity. To predict nutrient and mineral intake values, 1,402 subjects completed a standardized food frequency survey of their dietary habits over the past year. Stepwise regression was used to evaluate dietary and covariate effects on PON1 arylesterase activity. Five dietary components, cholesterol (P < 2.0 × 10−16), alcohol (P = 8.51 × 10−8), vitamin C (P = 7.97 × 10−5), iron (P = 0.0026), and folic acid (0.037) were independently predictive of PON1 activity. Dietary cholesterol was positively associated and predicted 5.5% of PON1 activity, second in variance explained. This study presents a novel finding of dietary cholesterol, iron, and folic acid predicting PON1 activity in humans and confirms prior reported associations, including that with vitamin C. Identifying and understanding environmental factors that affect PON1 activity is necessary to understand its role and that of HDL in human disease. 相似文献
92.
Ellen M. Wijsman Joseph H. Rothstein Robert P. Igo Jr. John D. Brunzell Arno G. Motulsky Gail P. Jarvik 《Human genetics》2010,127(6):705-719
Familial combined hyperlipidemia (FCHL) is a complex trait leading to cardiovascular disease (CVD) risk. Elevated levels and
size of apolipoprotein B (apoB) and low-density lipoprotein (LDL) are associated with FCHL, which is genetically heterogeneous
and is likely caused by rare variants. We carried out a linkage-based genome scan of four large FCHL pedigrees for apoB level
that is independent of LDL: apoB level that is adjusted for LDL level and size. Follow-up included SNP genotyping in the region
with the strongest evidence of linkage. Several regions with the evidence of linkage in individual pedigrees support the rare
variant model. Evidence of linkage was strongest on chromosome 4q, with multipoint analysis in one pedigree giving LOD = 3.1
with a parametric model, and a log Bayes Factor = 1.5 from a Bayesian oligogenic approach. Of the 293 SNPs spanning the implicated
region on 4q, rs6829588 completely explained the evidence of linkage. This SNP accounted for 39% of the apoB phenotypic variance,
with heterozygotes for this SNP having a trait value that was ~30% higher than that of the high-frequency homozygote, thus
identifying and considerably refining a strong candidate region. These results illustrate the advantage of using large pedigrees
in the search for rare variants: reduced genetic heterogeneity within single pedigrees coupled with the large number of individuals
segregating otherwise-rare single variants leads to high power to implicate such variants. 相似文献
93.
The Scientific Board of the California Medical Association presents the following inventory of items of progress in psychiatry. Each item, in the judgment of a panel of knowledgeable physicians, has recently become reasonably firmly established, both as to scientific fact and important clinical significance. The items are presented in simple epitome and an authoritative reference, both to the item itself and to the subject as a whole, is generally given for those who may be unfamiliar with a particular item. The purpose is to assist busy practitioners, students, research workers or scholars to stay abreast of these items of progress in psychiatry that have recently achieved a substantial degree of authoritative acceptance, whether in their own field of special interest or another.The items of progress listed below were selected by the Advisory Panel to the Section on Psychiatry of the California Medical Association and the summaries were prepared under its direction. 相似文献
94.
Summary A new variant of 1-antitrypsin has been detected with the aid of isoelectric fucosing on polyacrylamide slab gels. In contrast with many other variants this new 1-antitrypsin allele is found in 10–15% of the phenotypes examined. The electrophoretic properties of the new 1-antitrypsin variant in isofocusing polyacrylamide gels differ only silightly from the most common 1-antitrypsin allele M. On the basis of its electroforetic behaviour we propose the term MN to indicate this new protease inhibitor variant. The isofocusing technique employed, provides an easy to handle, very reproducible method for determining the 1-antitrypsin phenotype and can be employed for large scale screening. 相似文献
95.
96.
Szent-Gyorgyi C Schmidt BF Schmidt BA Creeger Y Fisher GW Zakel KL Adler S Fitzpatrick JA Woolford CA Yan Q Vasilev KV Berget PB Bruchez MP Jarvik JW Waggoner A 《Nature biotechnology》2008,26(2):235-240
Imaging of live cells has been revolutionized by genetically encoded fluorescent probes, most famously green and other fluorescent proteins, but also peptide tags that bind exogenous fluorophores. We report here the development of protein reporters that generate fluorescence from otherwise dark molecules (fluorogens). Eight unique fluorogen activating proteins (FAPs) have been isolated by screening a library of human single-chain antibodies (scFvs) using derivatives of thiazole orange and malachite green. When displayed on yeast or mammalian cell surfaces, these FAPs bind fluorogens with nanomolar affinity, increasing green or red fluorescence thousands-fold to brightness levels typical of fluorescent proteins. Spectral variation can be generated by combining different FAPs and fluorogen derivatives. Visualization of FAPs on the cell surface or within the secretory apparatus of mammalian cells can be achieved by choosing membrane permeant or impermeant fluorogens. The FAP technique is extensible to a wide variety of nonfluorescent dyes. 相似文献
97.
Targeted isolation of simple sequence repeat markers through the use of bacterial artificial chromosomes 总被引:11,自引:0,他引:11
P. B. Cregan J. Mudge E. W. Fickus L. F. Marek D. Danesh R. Denny R. C. Shoemaker B. F. Matthews T. Jarvik N. D. Young 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》1999,98(6-7):919-928
Simple sequence repeats (SSRs) are versatile DNA markers that are readily assayed and highly informative. Unfortunately,
non-targeted approaches to SSR development often leave large genomic regions without SSR markers. In some cases these same
genomic regions are already populated by other types of DNA markers, especially restriction fragment length polymorphisms
(RFLPs), random amplified polymorphic DNAs (RAPDs), and amplified fragment length polymorphisms (AFLPs). To identify SSR markers
in such regions, bacterial artificial chromosome (BAC) clones can be used as intermediaries. First, one or more BAC clones
in a region of interest are identified through the use of an existing DNA marker. BAC clones uncovered in this initial step
are then used to create a small insert DNA library that can be screened for the presence of SSR-containing clones. Because
BAC inserts are often 100-kb pairs or more in size, most contain one or more SSRs. This strategy was applied to two regions
of the soybean genome near genes that condition resistance to the soybean cyst nematode on molecular linkage groups G and
A2. This targeted approach to identifying new DNA markers can readily be extended to other types of DNA markers, including
single nucleotide polymorphisms.
Received: 13 August 1998 / Accepted: 13 October 1998 相似文献
98.
Jarvik JW Fisher GW Shi C Hennen L Hauser C Adler S Berget PB 《BioTechniques》2002,33(4):852-4, 856, 858-60 passim
A self-inactivating CD-tagging retroviral vector was used to introduce epitope and GFP tags into genes and proteins in NIH 3T3 cells. Several hundred cell clones, each expressing GFP fluorescence in a distinctive pattern, were isolated. Molecular analysis showed that a wide variety of genes and proteins, some known and some newly discovered, had been tagged. The analysis also revealed that, in the great majority of instances, the abundance and cellular location of the tagged protein mirrored that of its untagged counterpart. This approach provides a systematic means for the functional annotation of mammalian genomes and proteomes in living cells. 相似文献
99.
This investigation was undertaken to assess the sensitivity and specificity of the genotyping error detection function of the computer program SIMWALK2. We chose to examine chromosome 22, which had 7 microsatellite markers, from a single simulated replicate (330 pedigrees with a pattern of missing genotype data similar to the Framingham families). We created genotype errors at five overall frequencies (0.0, 0.025, 0.050, 0.075, and 0.100) and applied SIMWALK2 to each of these five data sets, respectively assuming that the total error rate (specified in the program), was at each of these same five levels. In this data set, up to an assumed error rate of 10%, only 50% of the Mendelian-consistent mistypings were found under any level of true errors. And since as many as 70% of the errors detected were false-positives, blanking suspect genotypes (at any error probability) will result in a reduction of statistical power due to the concomitant blanking of correctly typed alleles. This work supports the conclusion that allowing for genotyping errors within likelihood calculations during statistical analysis may be preferable to choosing an arbitrary cut-off. 相似文献
100.
Sumit Punj Yassmine Akkari Jennifer Huang Fei Yang Allison Creason Christine Pak Amiee Potter Michael O. Dorschner Deborah A. Nickerson Peggy D. Robertson Gail P. Jarvik Laura M. Amendola Jennifer Schleit Dana Kostiner Simpson Alan F. Rope Jacob Reiss Tia Kauffman Marian J. Gilmore C. Sue Richards 《American journal of human genetics》2018,102(6):1078-1089