全文获取类型
收费全文 | 3227篇 |
免费 | 334篇 |
出版年
2021年 | 46篇 |
2020年 | 29篇 |
2019年 | 43篇 |
2018年 | 52篇 |
2017年 | 46篇 |
2016年 | 85篇 |
2015年 | 157篇 |
2014年 | 134篇 |
2013年 | 190篇 |
2012年 | 242篇 |
2011年 | 204篇 |
2010年 | 141篇 |
2009年 | 148篇 |
2008年 | 182篇 |
2007年 | 180篇 |
2006年 | 161篇 |
2005年 | 133篇 |
2004年 | 122篇 |
2003年 | 104篇 |
2002年 | 101篇 |
2001年 | 43篇 |
2000年 | 38篇 |
1999年 | 53篇 |
1998年 | 44篇 |
1997年 | 26篇 |
1996年 | 26篇 |
1995年 | 24篇 |
1994年 | 20篇 |
1993年 | 19篇 |
1992年 | 42篇 |
1991年 | 48篇 |
1990年 | 31篇 |
1989年 | 32篇 |
1988年 | 35篇 |
1987年 | 30篇 |
1986年 | 25篇 |
1985年 | 33篇 |
1983年 | 20篇 |
1982年 | 21篇 |
1980年 | 21篇 |
1979年 | 21篇 |
1978年 | 22篇 |
1975年 | 21篇 |
1974年 | 31篇 |
1973年 | 29篇 |
1972年 | 28篇 |
1970年 | 19篇 |
1968年 | 24篇 |
1967年 | 19篇 |
1966年 | 19篇 |
排序方式: 共有3561条查询结果,搜索用时 31 毫秒
51.
52.
53.
The mouse lethal nonagouti (a(x)) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene. 总被引:2,自引:0,他引:2
下载免费PDF全文
![点击此处可从《The EMBO journal》网站下载免费的PDF全文](/ch/ext_images/free.gif)
M W Miller D M Duhl B M Winkes F Arredondo-Vega P J Saxon G L Wolff C J Epstein M S Hershfield G S Barsh 《The EMBO journal》1994,13(8):1806-1816
The lethal nonagouti (a(x)) mutation is a hypomorphic allele of the agouti coat color locus which, when homozygous, also leads to embryonic death around the time of implantation. To understand the molecular basis of these phenotypes, we identified and cloned a deletion breakpoint junction present in the ax chromosome. Long range restriction mapping demonstrated a simple deletion of approximately 100 kb, which does not affect agouti coding sequences, but begins only 4 kb 3' of the last exon, and thus may affect coat color by removing an agouti 3' enhancer. The Ahcy gene, which codes for the enzyme S-adenosylhomocysteine hydrolase (SAHase), is contained within a 20 kb region within the a(x) deletion. SAHase RNA and protein were detectable in early blastocysts and in embryonic stem cells, respectively, and analysis of embryos derived from an a(x)/a x a(x)/a embryo intercross indicated that a(x)/a embryos die between the late blastocyst and early implantation stages. Treatment of cultured embryos with an SAHase inhibitor, 3-deazaaristeromycin, or with metabolites that can result in elevated levels of cellular SAH, resulted in an inhibition of inner cell mass development, suggesting that loss of SAHase activity in a(x)/a(x) embryos is sufficient to explain their death around the time of implantation. 相似文献
54.
Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy 总被引:2,自引:0,他引:2
Approximately 90% of human Robertsonian translocations occur between nonhomologous acrocentric chromosomes, producing dicentric elements which are stable in meiosis and mitosis, implying that one centromere is functionally inactivated or suppressed. To determine if this suppression is random, centromeric activity in 48 human dicentric Robertsonian translocations was assigned by assessment of the primary constrictions using dual color fluorescence in situ hybridzation (FISH). Preferential activity/constriction of one centromere was observed in all except three different rearrangements. The activity is meiotically stable since intrafamilial consistency of a preferentially active centromere existed in members of six families. These results support evidence for nonrandom centromeric activity in humans and, more importantly, suggest a functional hierarchy in Robertsonian translocations with the chromosome 14 centromere most often active and the chromosome 15 centromere least often active. 相似文献
55.
Different abilities of Friend murine leukemia virus (MuLV) and Moloney MuLV to induce promonocytic leukemia are due to determinants in both psi-gag-PR and env regions. 总被引:3,自引:3,他引:0
下载免费PDF全文
![点击此处可从《Journal of virology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
R Mukhopadhyaya J Richardson V Nazarov A Corbin R Koller M Sitbon L Wolff 《Journal of virology》1994,68(8):5100-5107
Moloney murine leukemia virus (M-MuLV) is capable of inducing promonocytic leukemia in 50% of adult BALB/c mice that have received peritoneal injections of pristane, but Friend MuLV strain 57 (F-MuLV) is nonleukemogenic under similar conditions. It was shown earlier that these differences could not be mapped to the U3 region of the virus long terminal repeat, indicating the probable influence of structural genes and/or R-U5 sequences. In this study, reciprocal chimeras containing exchanged structural genes and R-U5 sequences from these two closely related viruses were analyzed for differences in ability to induce disease. Results showed that two regions of F-MuLV, psi-gag-PR and env, when substituted for those of M-MuLV were dramatically disease attenuating. The 5'-most region, which is widely distributed, overlaps with the 5' end of the env intron and includes the RNA packaging region, psi, the entire gag coding region, and the viral protease coding region (PR) of pol. It was also found that reciprocal constructs having substitutions of both of these regions of M-MuLV in an F-MuLV background allowed full reestablishment of promonocytic leukemia. These leukemias were positive for c-myb rearrangements which are characteristic of M-MuLV-induced promonocytic leukemias. Neither region alone, however, was sufficient to produce disease with a greater incidence than 13%. Further studies demonstrated that the inability of viruses with psi, gag, PR, or env sequences from F-MuLV to induce leukemia in this model system was not due to their inability to replicate in hematopoietic tissue, to integrate into the c-myb locus early on after infection in vivo, or to express gag-myb mRNA characteristic of M-MuLV-induced preleukemic cells and acute leukemia. 相似文献
56.
K. Wolff E. D. Schoen J. Peters-Van Rijn 《TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik》1993,86(8):1033-1037
Many conditions of the RAPD reaction procedure may influence the result. This paper presents rapid detection of influential factors with a fractional factorial experiment. A more extensive study of these factors is also presented. Polymerase brand, thermal cycler brand, annealing temperature, and primer, are important factors in obtaining good DNA yields and optimal fragment patterns. Each primer has its optimal annealing temperature, and this is not correlated with the GC content of the primer. Optimal species-primer combinations have to be found by trial and error. 相似文献
57.
Polystoma marmorati n. sp. is described as a new polystomatid species parasitic in the urinary bladder of the painted reed frog Hyperolius marmoratus marmoratus collected in southern Natal, South Africa. Parasite prevalence varied from 14.5 to 47.4% and the mean intensity from 1.0 to 1.1. The hamuli of the new species have a characteristic, partly fragmented appearance, a feature also seen in Polystoma batchvarivi, the only other polystome described from a species of the genus Hyperolius. The similarity between the two species, in spite of their geographical separation, is commented upon. 相似文献
58.
Sonja Buyle Edwin Reyniers Lieve Vits Kristel De Boulle Ingrid Handig Floris L. E. Wuyts Wout Deelen Dicky J. J. Halley Ben A. Oostra Patrick J. Willems 《Human genetics》1993,92(3):269-272
For many years, the high prevalence of the fragile X syndrome was thought to be caused by a high mutation frequency. The recent isolation of the FMR1 gene and identification of the most prevalent mutation enable a more precise study of the fragile X mutation. As the vast majority of fragile X patients show amplification of an unstable trinucleotide repeat, DNA studies can now trace back the origin of the fragile X mutation. To date, de novo mutations leading to amplification of the CGG repeat have not yet been detected. Recently, linkage disequilibrium was found in the Australian and US populations between the fragile X mutation and adjacent polymorphic markers, suggesting a founder effect of the fragile X mutation. We present here a molecular study of Belgian and Dutch fragile X families. No de novo mutations could be found in 54 of these families. Moreover, we found significant (P < 0.0001) linkage disequilibrium in 68 unrelated fragile X patients between the fragile X mutation and an adjacent polymorphic microsatellite at DXS548. This suggests that a founder effect of the fragile X mutation also exists in the Belgian and Dutch populations. Both the absence of new mutations and the presence of linkage disequilibrium suggest that a few ancestral mutations are responsible for most of the patients with fragile X syndrome. 相似文献
59.
D. Daniëlle de Vries Ilse J. de Wijs Gerhard Wolff Uwe-Peter Ketelsen Hans-Hilger Ropers Bernard A. van Oost 《Human genetics》1993,91(1):51-54
A family with myoclonus epilepsy has been described previously as suffering from an X-linked disorder, because at least four males were affected, and only mild and variable symptoms were seen in some female carriers. In this family, we have now identified a mitochondrial AG (8344) heteroplasmic point mutation. This point mutation has been described in families with maternally inherited myoclonus epilepsy and ragged red fibers. The degree of severity of the disorder in the different family members was reflected in the relative quantity of mutated mitochondrial DNA. It is concluded that the mode of inheritance in this family is not X-linked but maternal. 相似文献
60.
Studies on the biology and function of human cytomegalovirus (HCMV) genes have been hampered by the limited number of viral mutants available for genetic analyses. We have developed a simple procedure to generate and enrich for HCMV recombinants. By inserting the bacterial neo gene, encoding neomycin/kanamycin phosphotransferase, into the large HCMV DNA genome using homologous recombination, selectable mutants of this complex herpesvirus were isolated for the first time. The synthesis of Neo from the viral genome was used to effectively enrich for recombinant viruses (re-viruses) in permissive culture cells grown in the presence of Geneticin (G418). A quick assay for Neo activity in infected cells, based on phosphorylation of kanamycin (Km), was used to easily identify viral recombinants in the process of screening and isolation. This procedure, not used previously to identify re-viruses, proved to be very useful for screening of large numbers of HCMV recombinants. Analysis of re-virus by Southern blotting revealed that the insertion of the marker gene had resulted in the expected deletion of the open reading frames, TRL 13/14 and UL 1–5, of HCMV. Re-virus was stable and showed no differences in growth kinetics as compared to wild-type (wt) virus. The insertion of a selectable marker gene into the HCMV genome and identification of viral recombinants by the Km phosphorylation assay, as presented here, provides the rationale for effective generation, enrichment and stable propagation of HCMV mutants. 相似文献