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971.
972.
Takefumi Uemura Masaya Yamamoto Ai Kametaka Yu-shin Sou Atsuko Yabashi Akane Yamada Hiromichi Annoh Satoshi Kametaka Masaaki Komatsu Satoshi Waguri 《Molecular and cellular biology》2014,34(9):1695-1706
Recent findings have suggested that the autophagic isolation membrane (IM) might originate from a domain of the endoplasmic reticulum (ER) called the omegasome. However, the morphological relationships between ER, omegasome, and IM remain unclear. In the present study, we found that hybrid structures composed of a double FYVE domain-containing protein 1 (DFCP1)-positive omegasome and the IM accumulated in Atg3-deficient mouse embryonic fibroblasts (MEFs). Moreover, correlative light and electron microscopy and immunoelectron microscopy revealed that green fluorescent protein (GFP)-tagged DFCP1 was localized on tubular or vesicular elements adjacent to the IM rims. Through detailed morphological analyses, including optimization of a fixation method and electron tomography, we observed a cluster of thin tubular structures between the IM edges and ER, part of which were continuous with IM and/or ER. The formation of these thin tubular clusters was observed in several cell lines and MEFs deficient for Atg5, Atg7, or Atg16L1 but not in FIP200-deficient cells, suggesting that they were relevant to the earlier events in autophagosome formation. Taken together, our findings indicate that these tubular profiles represent a part of the omegasome that links the ER with the IM. 相似文献
973.
Jafar Mohseni Chia Boon Hock Che Abdul Razak Syah Nor Iman Othman Fatemeh Hayati Winnie Ong PeiTee Muzhirah Haniffa Bin Alwi Zilfalil Rowani Mohd. Rawi Lock-Hock Ngu Teguh Haryo Sasongko 《Gene》2014
Background
Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most reported mutations were point mutations and a few others deletions or insertions.Objective
This study aims at identifying the disease-causing mutation in the ARG1 gene of Malaysian patients with hyperargininemia.Methodology
We employed a series of PCR amplifications and direct sequencing in order to identify the mutation. We subsequently used quantitative real-time PCR to determine the copy number of the exons flanking the mutation. We blasted our sequencing data with that of the reference sequence in the NCBI in order to obtain positional insights of the mutation.Results
We found a novel complex re-arrangement involving insertion, inversion and gross deletion of ARG1 (designated g.insIVS1 + 1899GTTTTATCAT;g.invIVS1 + 1933_ + 1953;g.delIVS1 + 1954_IVS2 + 914;c.del116_188;p.Pro20SerfsX4) commonly shared by 5 patients with hyperargininemia, each originating from different family. None of the affected families share known relationship with each other, although four of the five patients were known to have first-cousin consanguineous parents.Conclusion
This is the first report of complex re-arrangement in the ARG1. Further analyses showing that the patients have shared the same geographic origin within the northeastern part of Malaysia prompted us to suggest a simple molecular screening of hyperargininemia within related ethnicities using a long-range PCR. 相似文献974.
Zhiwei Chen Dazhi SuLuoyan Ai Xiaoke JiangChangwei Wu Qingqing XuXiaohan Wang Zhuping Fan 《Gene》2014
Backgrounds and Aims
UDP-glucuronosyltransferase 1 A1 (UGT1A1) is an enzyme that transforms small lipophilic molecules into water-soluble and excretable metabolites. UGT1A1 polymorphisms contribute to hyperbilirubinemia. This study quantitatively associated UGT1A1 variants in patients with hyperbilirubinemia and healthy subjects.Methods
A total of 104 individuals with hyperbilirubinemia and 105 healthy controls were enrolled for genotyping and DNA sequencing UGT1A1 sequence variants, including the Phenobarbital Response enhancer module (PBREM) region, the promoter region (TATA box), and the 5 exons for quantitative association with hyperbilirubinemia.Results
Eleven UGT1A1 variants were revealed in the case and control subjects, four of which were novel coding variants. A variant of PBREM (UGT1A1*60) was found in 47.6% of the patients, a TA repeat motif in the 5-primer promoter region [A(TA)7TAA,UGT1A1*28] was found in 27.9% of the patients, and p.G71R (UGT1A1*6) was in 33.2% of the patients. For the healthy controls, the frequency of UGT1A1*60, UGT1A1*28 and UGT1A1*6 was 26.7%, 9.0% and 15.7%, respectively. Homozygous UGT1A1*28 and homozygous UGT1A1*6 were significantly associated with the risk of adult hyperbilirubinemia, with an odds ratio (OR) of 17.79 (95% CIs, 2.11–133.61) and 14.93 (95% CIs, 1.83–121.88), respectively. Quantitative analysis showed that sense mutation (including UGT1A1*6) and UGT1A1*28/*28, but not UGT1A1*60/*60 or UGT1A1*1/*28, was associated with increased serum total bilirubin (TB) levels. High linkage disequilibrium occurred between UGT1A1*60 and UGT1A1*28 (D′ = 0.964, r2 = 0.345).Conclusions
This study identified four novel UGT1A1 coding variants, some of which were associated with increased serum TB levels. A quantitative approach to evaluate adult hyperbilirubinemia provides a more vigorous framework for better understanding of adult hyperbilirubinemia genetics. 相似文献975.
Arezo Judaki Mohamadreza Hafeziahmadi Atefe Yousefi Mohamad Reza Havasian Jafar Panahi Koroush Sayehmiri Sajjad Alizadeh 《Bioinformation》2014,10(11):693-696
The intestine is the largest mucosal organ of the body and also the first line immune homeostasis. Inflammatory bowel disease or
IBD is divided into ulcerative colitis and Crohn''s disease. One of the problems that can occur with UC is dietary allergy to some
foods. This study aimed to evaluated the dairy allergy among patients with ulcerative colitis. This study is a Case - control study,
that studied 72 patients with Ulcerative Colitis, after recording history of the disease, colonoscopy and confirmed by biopsy and 72
person without history of colitis. In this study, in order to investigate of food allergy, used of the EUROMMUM kit with an
international code number DP3420-1601-11E. We used chi-square and Monte Carlo method for analysis of data. Among UC
patients, 30.6% mild, 52.8% moderate and 16.6% of cases were in sever stage. 9.7% of them reported a history of abdominal surgery
due to disease. According to the chi-square and Monte Carlo methods, dairy allergy (including: cow milk, cow milk UHT and
casein) in UC group was significant (P=0.00). This study indicated that there is significant relationship between UC and cow milk,
cow milk UHT and casein. UC patients who are allergic to dairy products and the use of dairy products can increase the severity of
UC. 相似文献
976.
977.
978.
Yan Ping Chen Jeffery S. Pettis Miguel Corona Wei Ping Chen Cong Jun Li Marla Spivak P. Kirk Visscher Gloria DeGrandi-Hoffman Humberto Boncristiani Yan Zhao Dennis vanEngelsdorp Keith Delaplane Leellen Solter Francis Drummond Matthew Kramer W. Ian Lipkin Gustavo Palacios Michele C. Hamilton Barton Smith Shao Kang Huang Huo Qing Zheng Ji Lian Li Xuan Zhang Ai Fen Zhou Li You Wu Ji Zhong Zhou Myeong-L. Lee Erica W. Teixeira Zhi Guo Li Jay D. Evans 《PLoS pathogens》2014,10(7)
979.
Background
The Tibetan pig is one of domestic animals indigenous to the Qinghai-Tibet Plateau. Several geographically isolated pig populations are distributed throughout the Plateau. It remained an open question if these populations have experienced different demographic histories and have evolved independent adaptive loci for the harsh environment of the Plateau. To address these questions, we herein investigated ~ 40,000 genetic variants across the pig genome in a broad panel of 678 individuals from 5 Tibetan geographic populations and 34 lowland breeds.Results
Using a series of population genetic analyses, we show that Tibetan pig populations have marked genetic differentiations. Tibetan pigs appear to be 3 independent populations corresponding to the Tibetan, Gansu and Sichuan & Yunnan locations. Each population is more genetically similar to its geographic neighbors than to any of the other Tibetan populations. By applying a locus-specific branch length test, we identified both population-specific and -shared candidate genes under selection in Tibetan pigs. These genes, such as PLA2G12A, RGCC, C9ORF3, GRIN2B, GRID1 and EPAS1, are involved in high-altitude physiology including angiogenesis, pulmonary hypertension, oxygen intake, defense response and erythropoiesis. A majority of these genes have not been implicated in previous studies of highlanders and high-altitude animals.Conclusion
Tibetan pig populations have experienced substantial genetic differentiation. Historically, Tibetan pigs likely had admixture with neighboring lowland breeds. During the long history of colonization in the Plateau, Tibetan pigs have developed a complex biological adaptation mechanism that could be different from that of Tibetans and other animals. Different Tibetan pig populations appear to have both distinct and convergent adaptive loci for the harsh environment of the Plateau.Electronic supplementary material
The online version of this article (doi:10.1186/1471-2164-15-834) contains supplementary material, which is available to authorized users. 相似文献980.
Xin‐Yuan Sun Liang‐Wu Lin Guang‐Yao Liu Xin‐Gen Liu Ai‐Jin Wu Shi‐Ming Huang 《Luminescence》2014,29(2):132-137
Red‐emitting Li2Sr1‐3x/2EuxSiO4 0≤x≤0.5) phosphors were synthesized at 900°C in air by a solid‐state reaction. The synthesized phosphors were characterized by X‐ray powder diffraction, photoluminescence (PL) excitation (PLE) and PL spectra. The results from the PLE spectra suggest that the strong 394 nm excitation peak associated with the 5L6 state of Eu3+ ions is of significance for near ultraviolet pumped white light‐emitting diodes and solid‐state lighting. It is also noted that the position of the charge transfer state of Eu3+ ions shifts towards the higher energy side (blue shift) by increasing the content of Eu3+ ions. The predominant emissions of Eu3+ ions under 394 nm excitation are observed at 580, 593, 614, 656 and 708 nm, which are attributed to the 5D0 → 7FJ (J = 0, 1, 2, 3 and 4), respectively. The PL results reveal that the optimal content of the red‐emitting Li2Sr1‐3x/2EuxSiO4 phosphors is x = 0.475. Simulation of the white light excited by 394 nm near ultraviolet light has also been carried out for its potential white light‐emitting diode applications. Copyright © 2013 John Wiley & Sons, Ltd. 相似文献