全文获取类型
收费全文 | 265篇 |
免费 | 1篇 |
国内免费 | 5篇 |
专业分类
教育与普及 | 1篇 |
理论与方法论 | 5篇 |
现状及发展 | 37篇 |
研究方法 | 45篇 |
综合类 | 174篇 |
自然研究 | 9篇 |
出版年
2019年 | 1篇 |
2018年 | 2篇 |
2017年 | 2篇 |
2016年 | 5篇 |
2015年 | 1篇 |
2014年 | 3篇 |
2013年 | 5篇 |
2012年 | 23篇 |
2011年 | 38篇 |
2010年 | 5篇 |
2009年 | 2篇 |
2008年 | 21篇 |
2007年 | 16篇 |
2006年 | 24篇 |
2005年 | 33篇 |
2004年 | 22篇 |
2003年 | 26篇 |
2002年 | 18篇 |
1999年 | 1篇 |
1993年 | 1篇 |
1990年 | 1篇 |
1989年 | 1篇 |
1987年 | 1篇 |
1986年 | 2篇 |
1984年 | 4篇 |
1983年 | 1篇 |
1982年 | 2篇 |
1981年 | 1篇 |
1980年 | 2篇 |
1971年 | 1篇 |
1969年 | 1篇 |
1966年 | 3篇 |
1965年 | 1篇 |
1961年 | 1篇 |
排序方式: 共有271条查询结果,搜索用时 812 毫秒
191.
192.
Vreugde S Erven A Kros CJ Marcotti W Fuchs H Kurima K Wilcox ER Friedman TB Griffith AJ Balling R Hrabé De Angelis M Avraham KB Steel KP 《Nature genetics》2002,30(3):257-258
Despite recent progress in identifying genes underlying deafness, there are still relatively few mouse models of specific forms of human deafness. Here we describe the phenotype of the Beethoven (Bth) mouse mutant and a missense mutation in Tmc1 (transmembrane cochlear-expressed gene 1). Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref. 1), for which Bth and deafness (dn) are mouse models, respectively. 相似文献
193.
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function 总被引:15,自引:0,他引:15
Kurima K Peters LM Yang Y Riazuddin S Ahmed ZM Naz S Arnaud D Drury S Mo J Makishima T Ghosh M Menon PS Deshmukh D Oddoux C Ostrer H Khan S Riazuddin S Deininger PL Hampton LL Sullivan SL Battey JF Keats BJ Wilcox ER Friedman TB Griffith AJ 《Nature genetics》2002,30(3):277-284
Positional cloning of hereditary deafness genes is a direct approach to identify molecules and mechanisms underlying auditory function. Here we report a locus for dominant deafness, DFNA36, which maps to human chromosome 9q13-21 in a region overlapping the DFNB7/B11 locus for recessive deafness. We identified eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), in a DFNA36 family and eleven DFNB7/B11 families. We detected a 1.6-kb genomic deletion encompassing exon 14 of Tmc1 in the recessive deafness (dn) mouse mutant, which lacks auditory responses and has hair-cell degeneration. TMC1 and TMC2 on chromosome 20p13 are members of a gene family predicted to encode transmembrane proteins. Tmc1 mRNA is expressed in hair cells of the postnatal mouse cochlea and vestibular end organs and is required for normal function of cochlear hair cells. 相似文献
194.
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes 总被引:25,自引:0,他引:25
Kondo S Schutte BC Richardson RJ Bjork BC Knight AS Watanabe Y Howard E de Lima RL Daack-Hirsch S Sander A McDonald-McGinn DM Zackai EH Lammer EJ Aylsworth AS Ardinger HH Lidral AC Pober BR Moreno L Arcos-Burgos M Valencia C Houdayer C Bahuau M Moretti-Ferreira D Richieri-Costa A Dixon MJ Murray JC 《Nature genetics》2002,32(2):285-289
195.
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene 总被引:8,自引:0,他引:8
Suzuki T Li W Zhang Q Karim A Novak EK Sviderskaya EV Hill SP Bennett DC Levin AV Nieuwenhuis HK Fong CT Castellan C Miterski B Swank RT Spritz RA 《Nature genetics》2002,30(3):321-324
Hermansky-Pudlak syndrome (HPS) is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding and pulmonary fibrosis result from defects of melanosomes, platelet dense granules and lysosomes. HPS is common in Puerto Rico, where it is caused by mutations in the genes HPS1 and, less often, HPS3 (ref. 8). In contrast, only half of non-Puerto Rican individuals with HPS have mutations in HPS1 (ref. 9), and very few in HPS3 (ref. 10). In the mouse, more than 15 loci manifest mutant phenotypes similar to human HPS, including pale ear (ep), the mouse homolog of HPS1 (refs 13,14). Mouse ep has a phenotype identical to another mutant, light ear (le), which suggests that the human homolog of le is a possible human HPS locus. We have identified and found mutations of the human le homolog, HPS4, in a number of non-Puerto Rican individuals with HPS, establishing HPS4 as an important HPS locus in humans. In addition to their identical phenotypes, le and ep mutant mice have identical abnormalities of melanosomes, and in transfected melanoma cells the HPS4 and HPS1 proteins partially co-localize in vesicles of the cell body. In addition, the HPS1 protein is absent in tissues of le mutant mice. These results suggest that the HPS4 and HPS1 proteins may function in the same pathway of organelle biogenesis. 相似文献
196.
197.
The mosaic structure of variation in the laboratory mouse genome 总被引:56,自引:0,他引:56
Wade CM Kulbokas EJ Kirby AW Zody MC Mullikin JC Lander ES Lindblad-Toh K Daly MJ 《Nature》2002,420(6915):574-578
Most inbred laboratory mouse strains are known to have originated from a mixed but limited founder population in a few laboratories. However, the effect of this breeding history on patterns of genetic variation among these strains and the implications for their use are not well understood. Here we present an analysis of the fine structure of variation in the mouse genome, using single nucleotide polymorphisms (SNPs). When the recently assembled genome sequence from the C57BL/6J strain is aligned with sample sequence from other strains, we observe long segments of either extremely high (approximately 40 SNPs per 10 kb) or extremely low (approximately 0.5 SNPs per 10 kb) polymorphism rates. In all strain-to-strain comparisons examined, only one-third of the genome falls into long regions (averaging >1 Mb) of a high SNP rate, consistent with estimated divergence rates between Mus musculus domesticus and either M. m. musculus or M. m. castaneus. These data suggest that the genomes of these inbred strains are mosaics with the vast majority of segments derived from domesticus and musculus sources. These observations have important implications for the design and interpretation of positional cloning experiments. 相似文献
198.
199.
The teachers/practitioners corner the effects of indexing ARMA series using the consumer price index
The authors demonstrate that indexing a time series with an ARMA representation using the Consumer Price Index does not materially alter the ARMA form of the model. They further demonstrate that the forecasting error of the indexed series and of the product of the forecasts of the index and the time series are, for practical purpose, the same. Simulation results are reported for five model classes. 相似文献
200.
The 111 series of the Makridakis competition are used to address a number of questions pertaining to use of the Box–Jenkins technique. The ARIMA models developed are compared to the ARIMA models developed independently by Andersen for the Makridakis competition. The time required to perform the analysis for each series is discussed in terms of model complexity. Forecast accuracy, measured as the MAPE for the one step ahead forecast, is discussed for different series lengths. 相似文献