全文获取类型
收费全文 | 434篇 |
免费 | 67篇 |
出版年
2024年 | 1篇 |
2023年 | 4篇 |
2022年 | 1篇 |
2021年 | 4篇 |
2020年 | 3篇 |
2019年 | 7篇 |
2018年 | 10篇 |
2017年 | 12篇 |
2016年 | 9篇 |
2015年 | 17篇 |
2014年 | 26篇 |
2013年 | 30篇 |
2012年 | 16篇 |
2011年 | 24篇 |
2010年 | 21篇 |
2009年 | 20篇 |
2008年 | 17篇 |
2007年 | 31篇 |
2006年 | 21篇 |
2005年 | 21篇 |
2004年 | 20篇 |
2003年 | 26篇 |
2002年 | 19篇 |
2001年 | 9篇 |
2000年 | 10篇 |
1999年 | 18篇 |
1998年 | 8篇 |
1997年 | 10篇 |
1996年 | 6篇 |
1995年 | 4篇 |
1994年 | 5篇 |
1993年 | 3篇 |
1992年 | 11篇 |
1991年 | 8篇 |
1990年 | 4篇 |
1989年 | 8篇 |
1988年 | 8篇 |
1987年 | 6篇 |
1986年 | 4篇 |
1985年 | 1篇 |
1984年 | 3篇 |
1983年 | 1篇 |
1982年 | 2篇 |
1981年 | 2篇 |
1978年 | 6篇 |
1977年 | 1篇 |
1976年 | 1篇 |
1972年 | 1篇 |
1957年 | 1篇 |
排序方式: 共有501条查询结果,搜索用时 31 毫秒
1.
2.
3.
Erythrocyte samples from 101 individuals, originally from Punjab and living at the time of investigation in England, were screened for glucose-6-phosphate dehydrogenase (G6PD) variants by Beutler’s fluorescent spot test and standard cellulose acetate gel (Cellogel) electrophoresis. All but 2 of the 40 males in the study were found to be indistinguishable from normal G6PD B. One of the variants had 2% of the normal activity and resembled G6PD Mediterranean in electrophoretic behaviour. The other variant showed 52% of the normal activity and migrated slower than G6PD B in Cellogel with about half of the normal band intensity. A set of physicochemical characteristics of the variant determined by conventional methods distinguished it from the variants reported so far. It was designated as G6PD Punjab, and the corresponding allele asG6PD PUN. The most striking feature of G6PD Punjab is a remarkable alteration in its electrophoretic behaviour after dialysis. 相似文献
4.
5.
6.
G L van Rens J M Raats H P Driessen M Oldenburg J T Wijnen P M Khan W W de Jong H Bloemendal 《Gene》1989,78(2):225-233
The organization of a number of crystallin genes has already been resolved. One of the remaining genes of which the structure was hitherto unknown is the gamma s gene (formerly beta s). We determined the complete sequence of the bovine gamma s-crystallin-coding gene, apart from the middle region of the first intron. Since it contains three exons and two introns, we conclude that the former beta s, also at the gene level is gamma-crystallin-like. However, it is located on chromosome 3, in contrast to other gamma genes which occur in tandem on the human chromosome 2. 相似文献
7.
8.
E. J. Breslau-Siderius J. Th. Wijnen J. G. Dauwerse J. M. de Pater F. A. Beemer P. Meera Khan 《Human genetics》1993,92(5):481-485
A de novo duplication of the proximal part of the long arms of chromosome 5 was found in a male born with craniostenosis, ear tags and kidney dysplasia. The nature of the chromosomal aberration was defined by fluorescence in situ hybridization and the orgin of the duplication was traced by polymorphic DNA markers. A comparison is made with the published cases showing similar duplications in the long arm of chromosome 5. 相似文献
9.
Seven New Mutations in hMSH2, an HNPCC Gene, Identified by Denaturing Gradient-Gel Electrophoresis 总被引:21,自引:3,他引:18
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)
Juul Wijnen Hans Vasen P. Meera Khan Fred H. Menko Heleen van der Klift Claus van Leeuwen Marianne van den Broek Inge van Leeuwen-Cornelisse Fokko Nagengast Anne Meijers-Heijboer Dick Lindhout Gerrit Griffioen Annemieke Cats Jan Kleibeuker Liliana Varesco Lucio Bertario Marie Luise Bisgaard Jan Mohr Riccardo Fodde 《American journal of human genetics》1995,56(5):1060-1066
Hereditary nonpolyposis colorectal cancer (HNPCC) is a relatively common autosomal dominant cancer-susceptibility condition. The recent isolation of the DNA mismatch repair genes (hMSH2, hMLH1, hPMS1, and hPMS2) responsible for HNPCC has allowed the search for germ-line mutations in affected individuals. In this study we used denaturing gradient-gel electrophoresis to screen for mutations in the hMSH2 gene. Analysis of all the 16 exons of hMSH2, in 34 unrelated HNPCC kindreds, has revealed seven novel pathogenic germ-line mutations resulting in stop codons either directly or through frameshifts. Additionally, nucleotide substitutions giving rise to one missense, two silent, and one useful polymorphism have been identified. The proportion of families in which hMSH2 mutations were found is 21%. Although the spectrum of mutations spread at the hMSH2 gene among HNPCC patients appears extremely heterogeneous, we were not able to establish any correlation between the site of the individual mutations and the corresponding tumor spectrum. Our results indicate that, given the genomic size and organization of the hMSH2 gene and the heterogeneity of its mutation spectrum, a rapid and efficient mutation detection procedure is necessary for routine molecular diagnosis and presymptomatic detection of the disease in a clinical setup. 相似文献
10.
Proton-nuclear-magnetic-resonance studies of serum, plasma and urine from fasting normal and diabetic subjects. 总被引:7,自引:0,他引:7
下载免费PDF全文
![点击此处可从《The Biochemical journal》网站下载免费的PDF全文](/ch/ext_images/free.gif)
J K Nicholson M P O'Flynn P J Sadler A F Macleod S M Juul P H S?nksen 《The Biochemical journal》1984,217(2):365-375
Resonances for the ketone bodies 3-D-hydroxybutyrate, acetone and acetoacetate are readily detected in serum, plasma and urine samples from fasting and diabetic subjects by 1H n.m.r. spectroscopy at 400 MHz. Besides the simultaneous observation of metabolites, the major advantage of n.m.r. is that little or no pretreatment of samples is required. N.m.r. determinations of 3-D-hydroxybutyrate, acetoacetate, lactate, valine and alanine were compared with determinations made with conventional assays at six 2-hourly intervals after insulin withdrawal from a diabetic subject. The n.m.r. results closely paralleled those of other assays although, by n.m.r., acetoacetate levels continued to rise rather than reaching a plateau 4h after insulin withdrawal. The 3-D-hydroxybutyrate/acetoacetate ratio in urine during withdrawal gradually increased to the value observed in plasma (3.0 +/- 0.2) as determined by n.m.r. The acetoacetate/acetone ratio in urine (17 +/- 6) was much higher than in plasma (2.5 +/- 0.7). Depletion of a mobile pool of fatty acids in plasma during fasting, as seen by n.m.r., paralleled that seen during insulin withdrawal. These fatty acids were thought to be largely in chylomicrons, acylglycerols and lipoproteins, and were grossly elevated in plasma samples from a non-insulin-dependent diabetic and in cases of known hyperlipidaemia. 相似文献