全文获取类型
收费全文 | 14613篇 |
免费 | 1417篇 |
国内免费 | 5篇 |
出版年
2023年 | 47篇 |
2022年 | 183篇 |
2021年 | 350篇 |
2020年 | 193篇 |
2019年 | 244篇 |
2018年 | 308篇 |
2017年 | 252篇 |
2016年 | 438篇 |
2015年 | 767篇 |
2014年 | 783篇 |
2013年 | 892篇 |
2012年 | 1190篇 |
2011年 | 1151篇 |
2010年 | 707篇 |
2009年 | 616篇 |
2008年 | 869篇 |
2007年 | 848篇 |
2006年 | 828篇 |
2005年 | 742篇 |
2004年 | 699篇 |
2003年 | 682篇 |
2002年 | 593篇 |
2001年 | 117篇 |
2000年 | 69篇 |
1999年 | 139篇 |
1998年 | 201篇 |
1997年 | 115篇 |
1996年 | 119篇 |
1995年 | 108篇 |
1994年 | 98篇 |
1993年 | 114篇 |
1992年 | 94篇 |
1991年 | 71篇 |
1990年 | 77篇 |
1989年 | 62篇 |
1988年 | 72篇 |
1987年 | 53篇 |
1986年 | 50篇 |
1985年 | 54篇 |
1984年 | 64篇 |
1983年 | 74篇 |
1982年 | 66篇 |
1981年 | 61篇 |
1980年 | 64篇 |
1979年 | 42篇 |
1978年 | 43篇 |
1977年 | 41篇 |
1976年 | 43篇 |
1975年 | 40篇 |
1974年 | 54篇 |
排序方式: 共有10000条查询结果,搜索用时 250 毫秒
191.
Clinical and Molecular Characterization of Patients with Distal 11q Deletions 总被引:10,自引:0,他引:10
下载免费PDF全文
![点击此处可从《American journal of human genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Laura A. Penny Marie Dell'Aquila Marilyn C. Jones JoAnn Bergoffen Christopher Cunniff Jean-Pierre Fryns Elizabeth Grace John M. Graham Boris Kousseff Teresa Mattina James Syme Lucille Voullaire Leopoldo Zelante Julie Zenger-Hain Oliver W. Jones Glen A. Evans 《American journal of human genetics》1995,56(3):676-683
Jacobsen syndrome is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. To define the critical regions responsible for these abnormalities, we studied 17 individuals with de novo terminal deletions of 11q. The patients were characterized in a loss-of-heterozygosity analysis using polymorphic dinucleotide repeats. The breakpoints in the complete two-generation families were localized with an average resolution of 3.9 cM. Eight patients with the largest deletions extending from 11q23.3 to 11qter have breakpoints, between D11S924 and D11S1341. This cytogenetic region accounts for the majority of 11q− patients and may be related to the FRA11B fragile site in 11q23.3. One patient with a small terminal deletion distal to D11S1351 had facial dysmorphism, cardiac defects, and thrombocytopenia, suggesting that the genes responsible for these features may lie distal to D11S1351. Twelve of 15 patients with deletion breakpoints as far distal as D11S1345 had trigonocephaly, while patients with deletions distal to D11S912 did not, suggesting that, if hemizygosity for a single gene is responsible for this dysmorphic feature, the gene may lie distal to D11S1345 and proximal to D11S912. 相似文献
192.
193.
Leslie A. Kuhn Craig A. Swanson Michael E. Pique John A. Tainer Elizabeth D. Getzoff 《Proteins》1995,23(4):536-547
Water-protein interactions drive protein folding, stabilize the folded structure, and influence molecular recognition and catalysis. We analyzed the closest protein contacts of 10,837 water molecules in crystallographic structures to define a specific hydrophilicity scale reflecting specific rather than bulk solvent interactions. The tendencies of different atom and residue types to be the nearest protein neighbors of bound water molecules correlated with other hydrophobicity scales, verified the relevance of crystallographically determined water positions, and provided a direct experimental measure of water affinity in the context of the folded protein. This specific hydrophilicity was highly correlated with hydrogen-bonding capacity, and correlated better with experimental than computationally derived measures of partitioning between aqueous and organic phases. Atoms with related chemistry clustered with respect to the number of bound water molecules. Neutral and negatively charged oxygen atoms were the most hydrophilic, followed by positively-charged then neutral nitrogen atoms, followed by carbon and sulfur atoms. Agreement between observed side-chain specific hydrophilicity values and values derived from the atomic hydrophilicity scale showed that hydrophilicity values can be synthesized for different functional groups, such as unusual side or main chains, discontinuous epitopes, and drug molecules. Two methods of atomic hydrophilicity analysis provided a measure of complementarity in the interfaces of trypsin:pancreatic trypsin inhibitor and HIV protease:U-75875 inhibitor complexes. © 1995 Wiley-Liss, Inc. 相似文献
194.
Production of Viscous Dextran-Containing Whey-Sucrose Broths by Leuconostoc mesenteroides ATCC 14935
下载免费PDF全文
![点击此处可从《Applied microbiology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Viscous broths were produced by growing Leuconostoc mesenteroides on a medium containing whey supplemented with sucrose. When combined with similarly produced xanthan-containing broths, a synergistic increase in viscosity was observed. 相似文献
195.
Acid hydrolases are present in normal human urine in appreciable amounts. Their source appears to be lysosomes released by kidney proximal tubule epithelial cells. For a given lysosomal enzyme the total amount excreted is the product of two parameters, a general one describing the rate of lysosome secretion and a specific one describing the relative concentration of that enzyme in lysosomes. There is considerable population variation in both parameters. Studies of -glucuronidase, -galactosidase, -hexosaminidase, and -galactosidase in monozygotic and dizygotic twins show that an appreciable part of this variation is genetic in origin. This appears to be true for both total enzyme excretion and lysosome composition. Although it was not possible to test directly whether this is also true for the rate of lysosome secretion, the fact that the two former parameters are both heritable strongly suggests that the rate of lysosome excretion is also a heritable trait. Taken together with previous data, the results suggest polygenic control of these biochemical traits. It is particularly significant that -glucuronidase excretion in normal individuals is a heritable trait since the excretion of this enzyme has frequently been used as a measure of normal and pathological physiological changes.This study was supported by grants from the National Institutes of Health (GM-19521) and the Council for Tobacco Research—U.S.A., Inc. (1080). The work was done while the authors were in the Department of Molecular Biology, Roswell Park Memorial Institute, Buffalo, New York 14263. 相似文献
196.
Trichoderma reesei was grown using purified cell walls ofNeurospora crassa as a primary source of carbon. The resulting culture medium contained an undefined mixture ofN. crassa cell-wall digesting enzymes. Protoplasts (cell lacking wall) were formed when youngN. crassa hyphae were treated withTrichoderma mixture. The vast majority of protoplasts resynthesized cell-wall material when washed free of cell-wall digesting enzyme; of these, about 40% regenerated a mycelium. 相似文献
197.
198.
199.
Summary A family is presented in which there were three different chromosome abnormalities in the children although the parents were cytogenetically normal. The proband had the karyotype 46,XX,r(18)(p11q23), a phenotypically normal brother was 47,XY,+mar, and another brother was a typical case of Down's syndrome, karyotype 47,XY,+21. There is nothing in the parents' history that provides grounds for a hypothesis to explain the coincidence of the abnormalities. 相似文献
200.