全文获取类型
收费全文 | 4748篇 |
免费 | 466篇 |
国内免费 | 1篇 |
出版年
2024年 | 11篇 |
2023年 | 59篇 |
2022年 | 133篇 |
2021年 | 272篇 |
2020年 | 122篇 |
2019年 | 152篇 |
2018年 | 170篇 |
2017年 | 150篇 |
2016年 | 227篇 |
2015年 | 371篇 |
2014年 | 350篇 |
2013年 | 361篇 |
2012年 | 504篇 |
2011年 | 437篇 |
2010年 | 238篇 |
2009年 | 179篇 |
2008年 | 288篇 |
2007年 | 255篇 |
2006年 | 205篇 |
2005年 | 201篇 |
2004年 | 158篇 |
2003年 | 118篇 |
2002年 | 92篇 |
2001年 | 22篇 |
2000年 | 11篇 |
1999年 | 11篇 |
1998年 | 15篇 |
1997年 | 9篇 |
1996年 | 4篇 |
1995年 | 7篇 |
1994年 | 4篇 |
1993年 | 3篇 |
1992年 | 6篇 |
1991年 | 2篇 |
1989年 | 7篇 |
1987年 | 7篇 |
1986年 | 5篇 |
1985年 | 3篇 |
1984年 | 9篇 |
1982年 | 5篇 |
1981年 | 2篇 |
1980年 | 7篇 |
1978年 | 2篇 |
1977年 | 2篇 |
1976年 | 3篇 |
1973年 | 2篇 |
1963年 | 2篇 |
1926年 | 1篇 |
1912年 | 1篇 |
1907年 | 1篇 |
排序方式: 共有5215条查询结果,搜索用时 15 毫秒
1.
Emily Olfson Catherine E. Cottrell Nicholas O. Davidson Christina A. Gurnett Jonathan W. Heusel Nathan O. Stitziel Li-Shiun Chen Sarah Hartz Rakesh Nagarajan Nancy L. Saccone Laura J. Bierut 《PloS one》2015,10(9)
The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. Our goal was to apply a systematic, stringent approach consistent with clinical standards to estimate the prevalence of pathogenic variants associated with such conditions using a diverse sequencing reference sample. Candidate variants in the 56 ACMG genes were selected from Phase 1 of the 1000 Genomes dataset, which contains sequencing information on 1,092 unrelated individuals from across the world. These variants were filtered using the Human Gene Mutation Database (HGMD) Professional version and defined parameters, appraised through literature review, and examined by a clinical laboratory specialist and expert physician. Over 70,000 genetic variants were extracted from the 56 genes, and filtering identified 237 variants annotated as disease causing by HGMD Professional. Literature review and expert evaluation determined that 7 of these variants were pathogenic or likely pathogenic. Furthermore, 5 additional truncating variants not listed as disease causing in HGMD Professional were identified as likely pathogenic. These 12 secondary findings are associated with diseases that could inform medical follow-up, including cancer predisposition syndromes, cardiac conditions, and familial hypercholesterolemia. The majority of the identified medically actionable findings were in individuals from the European (5/379) and Americas (4/181) ancestry groups, with fewer findings in Asian (2/286) and African (1/246) ancestry groups. Our results suggest that medically relevant secondary findings can be identified in approximately 1% (12/1092) of individuals in a diverse reference sample. As clinical sequencing laboratories continue to implement the ACMG recommendations, our results highlight that at least a small number of potentially important secondary findings can be selected for return. Our results also confirm that understudied populations will not reap proportionate benefits of genomic medicine, highlighting the need for continued research efforts on genetic diseases in these populations. 相似文献
2.
3.
4.
5.
Emily L. Germain John W. Littlefield 《In vitro cellular & developmental biology. Plant》1986,22(2):107-112
Summary Stem cells of the embryonal carcinoma cell line called H6 can be induced to differnetiate to endoderm-like cells by retinoic
acid (3×10−6
M). We have detected a diffusible and stable factor which is secreted by H6 endoderm-like cells and stimulates the growth of
H6 stem cells. The stimulation by the endoderm-like cells is considereably greater than that by mouse fibroblasts or H6 stem
cells themselves. No reciprocal stimulation of endoderm-like cells by stem cells occurs. Part but not all of the stimulation
might be due to extracellular matrix proteins or to insulin-like growth factor type 2, each of which also stimulates the growth
of H6 stem cells. Insulin causes no such stimulation.
This work was supported by research rant no. CA-16754 from the National Cancer Institute to J. W. L. E. L. G. was supported
by an American Heart Association Medical Student Research Award.
Editor's Statement This paper presents a good example of cooperativity between undifferentiated teratoma stem cells and differentiated
parietal endoderm-derived countrparts in terms of growth support. It raises the interesting question of the relationship between
factors produced by paprietal and visceral endoderm cells. Gordon H. Sato 相似文献
6.
Sicyos motozintlensis is described from the vicinity of Motozintla de Mendoza, Chiapas. It shows a strong similarity toS. chiriquensis Hammel & D’Arcy from Panama. 相似文献
7.
8.
Cloning of a higher-plant plastid omega-6 fatty acid desaturase cDNA and its expression in a cyanobacterium. 总被引:4,自引:0,他引:4
下载免费PDF全文
![点击此处可从《Plant physiology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
W D Hitz T J Carlson J R Booth Jr A J Kinney K L Stecca N S Yadav 《Plant physiology》1994,105(2):635-641
Oligomers based on amino acids conserved between known plant omega-3 and cyanobacterium omega-6 fatty acid desaturases were used to screen an Arabidopsis cDNA library for related sequences. An identified clone encoding a novel desaturase-like polypeptide was used to isolate its homologs from Glycine max and Brassica napus. The plant deduced amino acid sequences showed less than 27% similarity to known plant omega-6 and omega-3 desaturases but more than 48% similarity to cyanobacterial omega-6 desaturase, and they contained putative plastid transit sequences. Thus, we deduce that the plant cDNAs encode the plastid omega-6 desaturase. The identity was supported by expression of the B. napus cDNA in cyanobacterium. Synechococcus transformed with a chimeric gene that contains a prokaryotic promoter fused to the rapeseed cDNA encoding all but the first 73 amino acids partially converted its oleic acid fatty acid to linoleic acid, and the 16:1(9c) fatty acid was converted primarily to 16:2(9c, 12) in vivo. Thus, the plant omega-6 desaturase, which utilizes 16:1(7c) in plants, can utilize 16:1(9c) in the cyanobacterium. The plastid and cytosolic homologs of plant omega-6 desaturases are much more distantly related than those of omega-3 desaturases. 相似文献
9.
Andreas Meinke Neil R. Gilkes Emily Kwan Douglas G. Kilburn R. Antony J. Warren Robert C. Miller Jr 《Molecular microbiology》1994,12(3):413-422
The gene cbhA from the cellulolytic bacterium Cellulomonas fimi encodes a protein of 872 amino acids designated cellobiohydrolase A (CbhA). Mature CbhA contains 832 amino acid residues and has a predicted molecular mass of 85 349 Da. It is composed of five domains: an N-terminal catalytic domain, three repeated sequences of 95 amino acids, and a C-terminal cellulose-binding domain typical of other C. fimi glycanases. The structure and enzymatic activities of the CbhA cataiytic domain are closely related to those of CBH ll, an exocelloblohydrolase in the glycosyl hydrolase family B from the fungus Trichoderma reesel. CbhA is the first such enzyme to be characterized in bacteria. The data support the proposal that extended loops around the active site distinguish exohydrolases from endohydrolases in this enzyme family. 相似文献
10.
N S Yadav A Wierzbicki M Aegerter C S Caster L Prez-Grau A J Kinney W D Hitz J R Booth Jr B Schweiger K L Stecca et al. 《Plant physiology》1993,103(2):467-476
Arabidopsis thaliana T-DNA transformants were screened for mutations affecting seed fatty acid composition. A mutant line was found with reduced levels of linolenic acid (18:3) due to a T-DNA insertion. Genomic DNA flanking the T-DNA insertion was used to obtain an Arabidopsis cDNA that encodes a polypeptide identified as a microsomal omega-3 fatty acid desaturase by its complementation of the mutation. Analysis of lipid content in transgenic tissues demonstrated that this enzyme is limiting for 18:3 production in Arabidopsis seeds and carrot hairy roots. This cDNA was used to isolate a related Arabidopsis cDNA, whose mRNA is accumulated to a much higher level in leaf tissue relative to root tissue. This related cDNA encodes a protein that is a homolog of the microsomal desaturase but has an N-terminal extension deduced to be a transit peptide, and its gene maps to a position consistent with that of the Arabidopsis fad D locus, which controls plastid omega-3 desaturation. These Arabidopsis cDNAs were used as hybridization probes to isolate cDNAs encoding homologous proteins from developing seeds of soybean and rapeseed. The high degree of sequence similarity between these sequences suggests that the omega-3 desaturases use a common enzyme mechanism. 相似文献