全文获取类型
收费全文 | 3631篇 |
免费 | 355篇 |
国内免费 | 1篇 |
出版年
2023年 | 9篇 |
2022年 | 21篇 |
2021年 | 54篇 |
2020年 | 40篇 |
2019年 | 49篇 |
2018年 | 76篇 |
2017年 | 68篇 |
2016年 | 108篇 |
2015年 | 153篇 |
2014年 | 194篇 |
2013年 | 205篇 |
2012年 | 262篇 |
2011年 | 242篇 |
2010年 | 187篇 |
2009年 | 173篇 |
2008年 | 212篇 |
2007年 | 215篇 |
2006年 | 176篇 |
2005年 | 176篇 |
2004年 | 167篇 |
2003年 | 181篇 |
2002年 | 159篇 |
2001年 | 52篇 |
2000年 | 42篇 |
1999年 | 47篇 |
1998年 | 46篇 |
1997年 | 44篇 |
1996年 | 39篇 |
1995年 | 47篇 |
1994年 | 33篇 |
1993年 | 50篇 |
1992年 | 49篇 |
1991年 | 35篇 |
1990年 | 33篇 |
1989年 | 37篇 |
1988年 | 31篇 |
1987年 | 19篇 |
1986年 | 21篇 |
1985年 | 22篇 |
1984年 | 24篇 |
1983年 | 14篇 |
1982年 | 15篇 |
1981年 | 20篇 |
1980年 | 15篇 |
1979年 | 19篇 |
1978年 | 12篇 |
1977年 | 14篇 |
1971年 | 8篇 |
1970年 | 8篇 |
1967年 | 10篇 |
排序方式: 共有3987条查询结果,搜索用时 187 毫秒
21.
Christiane M.-R. Fauron Mark Casper Raymond Gesteland Marc Albertsen 《The Plant journal : for cell and molecular biology》1992,2(6):949-958
Regeneration of plants from maize cytoplasmic male sterile type T (cmsT) callus tissue culture promotes, in some instances, genetic variability in their mitochondrial genomes. These mutations have been analyzed in various cmsT regenerated plants that have or have not regained the male fertile phenotype. A unique multi-recombination model explains the various mitochondrial genome rearrangements. First, recombination involving two different sets of direct repeats gives rise to subgenomic recombinant circles. Second, intermolecular recombination between some selected subgenomes gives rise to a new rearranged master chromosome. The consequence of these events is the formation of a new master chromosome containing sequence deletions and duplications when compared to the progenitor. This new mitochondrial genome seems stable, although it does not contain the entire genetic complexity of the progenitor. 相似文献
22.
Monique Berthelon Catherine Caillaud Françoise Rey Philippe Labrune Dominique Melle Josué Feingold Jean Frézal Marie-Louise Briard Jean-Pierre Farriaux Pierre Guibaud Hubert Journel Bernard Le Marec Nicole Maurin Jean-Louis Nivelon Henri Plauchu Jean-Marie Saudubray Philippe Tron Jean Rey Arnold Münnich Stanislas Lyonnet 《Human genetics》1991,86(4):355-358
Summary A total of 252 chromosomes from 126 patients with phenylalanine hydroxylase (PAH) deficiencies were analyzed for both mutant genotypes and restriction fragment length polymorphism (RFLP) haplotypes at the PAH locus. The mutant genes studied originated either from Western Europe (116 alleles) or from Mediterranean countries (136 alleles). Only 27% of all mutant alleles were found to carry identified mutations, particularly mutations at codon 252 (2.3%), 261 (7.5%), 280 (6.3%), 408 (3.5%) and at the splice donor site of intron 12 (6.3%). The mutant genotypes were associated with RFLP haplotypes 7, 1, 38, 2 and 3 at the PAH locus respectively. Except for the splice mutation of intron 12, these associations were preferential, but not exclusive, since the other four mutations were found on the background of at least two RFLP haplotypes. These results, together with the observation that 85% of PAH deficient patients are heterozygotes for their mutant genotypes, emphasize the great heterogeneity of PAH deficiencies in Mediterranean countries and hamper systematic DNA testing for carrier status in this population. 相似文献
23.
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France 总被引:20,自引:10,他引:10 下载免费PDF全文
Franoise Rey Monique Berthelon Catherine Caillaud Stanislas Lyonnet Vronique Abadie Flicienne Blandin-Savoja Josu Feingold Jean-Marie Saudubray Jean Frzal Arnold Munnich Jean Rey 《American journal of human genetics》1988,43(6):914-921
RFLPs of 68 normal and 74 mutant alleles at the phenylalanine hydroxylase (PAH) locus were determined in 37 French kindreds. A total of 23 haplotypes, including 18 normal and 16 mutant alleles, were observed. Two-thirds of all mutant alleles were confined within only four haplotypes, while the last third was accounted for by 12 haplotypes, including eight haplotypes absent from Caucasian pedigrees reported thus far. Several mutant haplotypes were present in typical phenylketonuria only, others were present in variants only, and some were present in both. In addition, a particular mutant haplotype (haplotype 2) was found to harbor different mutations in our series, resulting in either typical phenylketonuria or in mild hyperphenylalaninemias. The diploid combination of so many mutant haplotypes in PAH-deficient patients and of compound heterozygosity at the PAH locus in southern Europe might account for the broad spectrum of individual phenotypes observed in France. 相似文献
24.
The chromosomal region 36C on 2L contains two maternal-effect loci, dorsal (dl) and Bicaudal-D (Bic-D), which are involved in establishing polarity of the Drosophila embryo along the dorsal-ventral and anterior-posterior axes, respectively. To analyze the region genetically, we isolated X-ray-induced dorsal alleles, which we recognized by virtue of the haplo-insufficient temperature-sensitive dorsal-dominant phenotype in progeny of single females heterozygous for a mutagenized chromosome. From the 20,000 chromosomes tested, we isolated three deficiencies, two inversions with breakpoint in dl and one apparent dl point mutant. One of the deficiencies, Df(2L)H20 (36A6,7; 36F1,2) was used to screen for EMS-induced lethal- and maternal-effect mutants mapping in the vicinity of dl and Bic-D. We isolated 44 lethal mutations defining 11 complementation groups. We also recovered as maternal-effect mutations four dl alleles, as well as six alleles of quail and one allele of kelch, two previously identified maternal-effect genes. Through complementation tests with various viable mutants and deficiencies in the region, a total of 18 loci were identified in an interval of about 30 cytologically visible bands. The region was subdivided into seven subregions by deficiency breakpoints. One lethal complementation group as well as the two maternal loci, Bic-D and quail, are located in the same deficiency interval as is dl. 相似文献
25.
26.
Edmond A. Goidl Christiane Samarut Ansbert Schneider-Gadicke Neal L. Hochwald G.Jeanette Thorbecke Gregory W. Siskind 《Cellular immunology》1984,85(1):25-33
Using hapten-reversible inhibition of plaque formation as an assay for auto-anti-idiotype antibody (anti-Id) and as a means for following idiotype (Id) expression, we have obtained evidence that following immunization with trinitrophenyl (TNP) conjugates (a) there are differences in Id expression in the anti-TNP antibody response to different TNP conjugates although there is some overlap; (b) different strains, although showing some differences in Id expression, tend to produce cross-reactive Ids, thus no obvious allotype linked inheritance of Id expression is observed in this heterogeneous immune response; (c) the auto-anti-Id produced following immunization with TNP-Brucella abortus or TNP-Ficoll tends to be of the IgG2a and IgG2b isotypes. 相似文献
27.
A Rey B Klein M Rucheton J Caraux D Zagury C Thierry B Serrou 《Cellular immunology》1984,86(1):155-164
Peripheral blood lymphocytes (PBL) of solid-tumor-bearing cancer patients produced a lower interleukin 2 (IL-2) activity after lectin stimulation than did those from normal subjects. Moreover natural killer (NK) cell activity and autologous rosette forming (ARF) cell rate are found significantly correlated with IL-2 production in these patients. No direct relation is observed between ARF cell ratio and NK cell activity in a given patient. A central role for IL-2 in cancer patient immune dysfunctions is suggested. Two lines of pathogenetic mechanisms are documented. First, PBL exhibited cellular function defects, namely, autologous receptor expression, IL-2 production, and NK activity. Second, these dysfunctions involved, at least partly, plasma factors. The possibility of specific deficiency, (e.g., thymic factors) is not documented. Conversely it is demonstrated that patient plasma contain immunosuppressive factor(s) that block(s) IL-2 production and ARF cell expression. Involvement of ARF cell receptor in T-cell activation is discussed. 相似文献
28.
29.
Cathepsin B, H, L and D activities in liver lysosomes were compared between species. Although cathepsin B and D were detected in bovine, pig, chicken and rat liver, striking species differences were evident for cathepsin H and L. Cathepsin L activity was particularly high in chicken lysosomal extracts, but could not be detected in bovine and pig extracts. Whereas there was no significant cathepsin H activity in bovine extracts, rat liver lysosomal extracts contained large amounts of cathepsin H activity. 相似文献
30.
A cDNA clone containing the entire coding sequence of a mouse H-2Kd histocompatibility antigen 总被引:14,自引:4,他引:10 下载免费PDF全文
Jean-Louis Lalanne Christiane Delarbre Gabriel Gachelin Philippe Kourilsky 《Nucleic acids research》1983,11(5):1567-1577
We have isolated a cDNA clone carrying a 1560 bp long insert which contains the entire coding and 3' untranslated regions of an H-2K(d) mouse histocompatibility antigen. Its sequence and overal features are described. They point to the existence of unique properties of DNA sequences associated with the H-2K(d) antigen. 相似文献