全文获取类型
收费全文 | 485篇 |
免费 | 24篇 |
出版年
2023年 | 5篇 |
2022年 | 9篇 |
2021年 | 21篇 |
2020年 | 14篇 |
2019年 | 4篇 |
2018年 | 14篇 |
2017年 | 11篇 |
2016年 | 12篇 |
2015年 | 14篇 |
2014年 | 29篇 |
2013年 | 40篇 |
2012年 | 41篇 |
2011年 | 47篇 |
2010年 | 27篇 |
2009年 | 23篇 |
2008年 | 23篇 |
2007年 | 13篇 |
2006年 | 25篇 |
2005年 | 24篇 |
2004年 | 18篇 |
2003年 | 22篇 |
2002年 | 14篇 |
2001年 | 4篇 |
2000年 | 3篇 |
1999年 | 1篇 |
1998年 | 6篇 |
1997年 | 6篇 |
1996年 | 7篇 |
1995年 | 5篇 |
1994年 | 3篇 |
1993年 | 4篇 |
1992年 | 2篇 |
1991年 | 1篇 |
1990年 | 1篇 |
1989年 | 1篇 |
1988年 | 1篇 |
1987年 | 2篇 |
1986年 | 1篇 |
1985年 | 1篇 |
1981年 | 5篇 |
1979年 | 2篇 |
1978年 | 1篇 |
1977年 | 2篇 |
排序方式: 共有509条查询结果,搜索用时 431 毫秒
61.
Meena Lall Ratna Puri Pushpa Saviour Ishwar Verma 《Indian journal of human genetics》2012,18(2):238-240
Chromosome inversions are intra-chromosomal rearrangements formed when the chromosome breaks occur at two places, and in the process of repair the intervening segments are joined in an inverted or opposite manner. Inversions themselves do not appear to cause clinical anomalies, if balanced. Abnormal phenotypes can occur due to gene disruption at the point of breakage and reunion or due to duplication/deficiency recombinants formed during crossover at meiosis. We report a case with familial deletion 4q syndrome in a 1-year-old female child with dysmorphism and congenital abnormalities. The deletion was an outcome of a paracentric inversion 4q31.2q35.2. The deletion was confirmed by fluorescence in situ hybridization using telomeric DNA probes for chromosome No. 4. An attempt was made to correlate the genotype with the phenotype. The father had the same rearrangement with a milder phenotype. The recurrence risk in such cases is high. 相似文献
62.
Ramavatar Meena Kamalesh Prasad M. Ganesan A. K. Siddhanta 《Journal of applied phycology》2008,20(4):397-402
Gracilaria edulis, G. crassa, G. foliifera, and G. corticata are naturally occurring agarophytes of Indian waters. These agarophytes were evaluated for their agar contents using an improved
process recently reported by us (US Patent 2005/0267296A1). The effect of different concentrations of NaOH in the alkali treatment
was studied for optimizing the extraction conditions. These Gracilaria species of Indian waters produced agars, both native and alkali treated, with different properties confirming the heterogeneity
of the agar polymers in this genera, as one would expect. Among these, G. edulis and G. crassa produced agar polymers having high gel strengths of 490 ± 8.16 and 800 ± 15.4 g cm−2, respectively, with 8% NaOH treatment as opposed the low gel strength agars that have been reported in the literature to
date. 相似文献
63.
64.
65.
Murthy M Cope G O'Shaughnessy KM 《Biochemical and biophysical research communications》2008,375(4):651-654
WNK kinases have rapidly emerged as important regulators of Na+ and K+ homoeostasis in the mammalian kidney where they regulate the trafficking of proteins such as the NaCl-cotransporter (NCCT) and K+ channel, ROMK. However, an increasing number of WNK effects are kinase-independent, including their interaction with ROMK, and involve instead protein-protein interactions. Outside of their kinase domain all WNKs contain a unique run of predominantly negatively charged amino acids dubbed the acidic motif, where the WNK4 disease mutations causing Gordon’s syndrome also cluster. To look further at the role of this motif we studied the effects of WNK4 fragments, including one with a deleted acidic motif (ΔAM) and a 10-mer acidic motif peptide on ROMK expression in Xenopus oocytes. We found that an N-terminal fragment of WNK4 (1-620 WNK4) containing the acidic motif retains full activity in inhibiting ROMK currents. However, ΔAM WNK4 is completely inactive and the effect of WNK4 or 1-620 WNK4 can be completely blocked by co-injection of the 10-mer acidic motif peptide. The blocking action of the peptide was sequence specific as a peptide with a randomised sequence was inactive. These results on ROMK currents were paralleled by changes in membrane expression of fluorescent EGFP-ROMK. Finally, we show that 1-620 WNK4 can pull down ROMK and this interaction can be blocked with the acidic motif peptide. These results confirm the important role of the acidic motif of WNK4 in its protein-protein interaction with the ROMK channel. 相似文献
66.
67.
The identification of mutations in the NF1 gene causing type 1 neurofibromatosis (NF1) has presented a considerable challenge because of the large size of the gene, the lack of significant mutational clustering, the diversity of the underlying pathological lesions and the presence of NF1 pseudogenes. Denaturing high performance liquid chromatography (DHPLC), a high throughput, non-hazardous and largely automated heteroduplex-based technique, is in many ways ideally suited to mutation detection in this condition. DHPLC was therefore optimised for the rapid screening of the 60 exons and splice junctions of the NF1 gene in patients with NF1. The sensitivity of DHPLC was evaluated in a retrospective study of a cohort of 111 unrelated NF1 patients with known germline mutations; 97% of mutations were detected. In a subsequent prospective analysis of 50 unrelated NF1 patients, germline mutations were identified in 34 individuals (68%), 22 of these alterations being novel. This represents the highest rate of mutation detection so far reported for the NF1 gene with a single screening technique and genomic DNA as a target. 相似文献
68.
Spliceosome-targeted therapies trigger an antiviral immune response in triple-negative breast cancer
Elizabeth A. Bowling Jarey H. Wang Fade Gong William Wu Nicholas J. Neill Ik Sun Kim Siddhartha Tyagi Mayra Orellana Sarah J. Kurley Rocio Dominguez-Vidaña Hsiang-Ching Chung Tiffany Y.-T. Hsu Julien Dubrulle Alexander B. Saltzman Heyuan Li Jitendra K. Meena Gino M. Canlas Srinivas Chamakuri Thomas F. Westbrook 《Cell》2021,184(2):384-403.e21
69.
70.