全文获取类型
收费全文 | 5389篇 |
免费 | 500篇 |
国内免费 | 1篇 |
专业分类
5890篇 |
出版年
2023年 | 22篇 |
2022年 | 43篇 |
2021年 | 92篇 |
2020年 | 40篇 |
2019年 | 63篇 |
2018年 | 50篇 |
2017年 | 41篇 |
2016年 | 112篇 |
2015年 | 228篇 |
2014年 | 252篇 |
2013年 | 325篇 |
2012年 | 390篇 |
2011年 | 367篇 |
2010年 | 273篇 |
2009年 | 239篇 |
2008年 | 365篇 |
2007年 | 337篇 |
2006年 | 375篇 |
2005年 | 343篇 |
2004年 | 323篇 |
2003年 | 347篇 |
2002年 | 288篇 |
2001年 | 66篇 |
2000年 | 43篇 |
1999年 | 72篇 |
1998年 | 101篇 |
1997年 | 63篇 |
1996年 | 55篇 |
1995年 | 53篇 |
1994年 | 40篇 |
1993年 | 49篇 |
1992年 | 43篇 |
1991年 | 37篇 |
1990年 | 34篇 |
1989年 | 28篇 |
1988年 | 26篇 |
1987年 | 19篇 |
1986年 | 29篇 |
1985年 | 22篇 |
1984年 | 20篇 |
1983年 | 20篇 |
1982年 | 19篇 |
1981年 | 23篇 |
1980年 | 23篇 |
1979年 | 11篇 |
1978年 | 13篇 |
1977年 | 9篇 |
1976年 | 6篇 |
1973年 | 9篇 |
1968年 | 8篇 |
排序方式: 共有5890条查询结果,搜索用时 0 毫秒
41.
Patricia A. Fraser Barbara Moore Rosanne Stein Sharon Alosco Armead H. Johnson Deborah Marcus-Bagley Zuhier Awdeh Edmond J. Yunis Chester A. Alper 《Immunogenetics》1990,31(2):89-93
We analyzed the frequency distribution of 106 complotypes [four allele sets of the major histocompatibility complex (MHC) genes for the complement proteins factor B, C2, C4A, and C4B] from 32 Black families residing in Boston and Washington, DC. Twenty-five different complotypes were identified, among which there were four complotypes that had not been previously observed in our large database of complotypes compiled from family studies of Boston Caucasians and that are, presumably, unique to individuals of African origin. These four African-derived complotypes areFC(1,90)0, FC63, S1C2,17, andSC(3,2,90)0. The frequencies of two of these four unique Black complotypes,FC(1,90)0 andFC63, were increased significantly when compared to Caucasians (pcorr <0.00042, pcorr=0.00294, respectively). The complotypeFC(1,90)0 was in positive linkage disequilibrium withHLA-DR3 haplotypes containing theB locus antigens Bw42, Bw52, Bw53, and Bw58, whileFC63 was associated withHLA-Bw70,-DR5. These findings demonstrate the extensive polymorphism of complotypes in Blacks, and also suggest that it may be possible to define unique extended haplotypes of African origin. 相似文献
42.
Wayne W. Grody Deborah Klein Amy E. Dodson Rita M. Kern Paul B. Wissmann Barbara K. Goodman Patrick Bassand Bert Marescau Soo-Sang Kang James V. Leonard Stephen D. Cederbaum 《American journal of human genetics》1992,50(6):1281-1290
We have explored the molecular pathology in 28 individuals homozygous or heterozygous for liver arginase deficiency (hyperargininemia) by a combination of Southern analysis, western blotting, DNA sequencing, and PCR. This cohort represents the majority of arginase-deficient individuals worldwide. Only 2 of 15 homozygous patients on whom red blood cells were available had antigenically cross-reacting material as ascertained by western blot analysis using anti-liver arginase antibody. Southern blots of patient genomic DNAs, cut with a variety of restriction enzymes and probed with a near-full-length (1,450-bp) human liver arginase cDNA clone, detected no gross gene deletions. Loss of a TaqI cleavage site was identified in three individuals: in a homozygous state in a Saudi Arabian patient at one site, at a different site in homozygosity in a German patient, and in heterozygosity in a patient from Australia. The changes in the latter two were localized to exon 8, through amplification of this region by PCR and electrophoretic analysis of the amplified fragment after treatment with TaqI; the precise base changes (Arg291X and Thr290Ser) were confirmed by sequencing. It is interesting that the latter nucleotide variant (Thr290Ser) was found to lie adjacent to the TaqI site rather than within it, though whether such a conservative amino acid substitution represents a true pathologic mutation remains to be determined. We conclude that arginase deficiency, though rare, is a heterogeneous disorder at the genotypic level, generally encompassing a variety of point mutations rather than substantial structural gene deletions. 相似文献
43.
Deborah R. Gordon 《Culture, medicine and psychiatry》1990,14(2):275-297
Individuals and societies embody illnesses in different ways, in part determined by the way a person knows and lives his or her diagnosis and prognosis. Based on research in Northern Italy, on the experiences and meanings of cancer and on the practice of nondisclosure of the diagnosis, we find nondisclosure reflects a world divided - life/death, good/bad, mind/body — with the unwanted converted to other. The strong association of cancer with death, suffering, and hopelessness in much of Italy, coupled with the tremendous power attributed to naming and sentencing makes nondisclosure a major mechanism for keeping the condemned in this social world, and keeping death, decay, and suffering in the other. It is the social reality that is dominant here, such that informing a patient of cancer can be tantamount to social death.
Résumé Les individus et les sociétés incorporent la maladie de façon différente, déterminée en partie de comment une personne connait et vit son diagnostic et prognostic. A partir de la recherche des experiences des significations du cancer et de la pratique de ne pas dire la diagnostic au Nord de l'Italie, on a remarqué que l'habitude de ne rien dire reflète un monde séparé entre la vie et la mort, entre le bon et le mal, entre l'esprit et le corps, de sorte que ce qui West pas voulu soit transfomé en l'autre. L'association forte du cancer à la mort, à la souffrance, au désespérance en toute l'Italie, unie au grand pouvoir donne au fait de dénommer et de donner une sentence, rend ne pas dire un méchanisme important pour garder le condamnd dans ce monde social et pour garder la mort, la décadence et la souffrance dans l'autre. C'est la réalité sociale qui est ici dominante, tel que le fait d'informer un patient de cancer soit comme une mort sociale.相似文献
44.
A new major histocompatibility complex class I b gene expressed in the mouse blastocyst and placenta
Susan L. Sipes Maxine V. Medaglia Deborah L. Stabley Craig S. DeBruyn Mark S. Alden Vicki Catenacci C. P. Landel 《Immunogenetics》1996,45(2):108-120
Because of the role major histocompatibility complex (MHC) class I b molecules may play during mouse embryonic development,
we thought it would be interesting to search for additional MHC class I b molecules that might be expressed in preimplantation
embryos, and in particular in the trophoblastic lineage. We therefore screened a mouse preimplantation blastocyst cDNA library
for MHC class I sequences. This search led to the identification and characterization of a new MHC class I b gene, blastocyst MHC. Sequences identical to the exons and 3′ untranslated region of this gene have been found in many laboratory mouse strains,
as well as in the related mouse species Mus spreciligus. The presence of this gene in mouse strains of different MHC class I haplotypes argues that blastocyst MHC is a unique, newly-described gene rather than a new allele of a previously described mouse MHC class I gene. Blastocyst MHC has the structure of an MHC class I b gene, with the six exons characteristic of T-region genes. It is linked to H2-D. The amino acid sequence encoded by this gene maintains all the features of a functional antigen-presentation domain. The
blastocyst MHC gene, like the human class I b gene HLA-G, is expressed at the blastocyst stage and in the placenta, and may be the mouse analog for HLA-G.
Received: 31 May 1996 / Revised: 19 August 1996 相似文献
45.
46.
Micheline Paulin-Levasseur Deborah Lyn Blake Martha Julien Louise Rouleau 《Chromosoma》1996,104(5):367-379
The characterization of the human antiserum designated MAN has led to the identification of a subset of non-lamin proteins that are exclusively located at the nuclear periphery in all vertebrate cell types examined, from human to fish. Immunoreactive protein species were whown to comprise three major polypeptides of M
r 78000, 58000 and 40000. These antigens co-partitioned with the nuclear lamina during in situ isolation of nuclear matrices from lamin A/C-positive and-negative mammlian cells. Using double immunofluorescence, the spatial relationship of MAN antigens to type-A and type-B lamins was further examined throughout the cell cycle of lamin A/C-positive mammalian cells. In interphase HeLa and 3t3 cells, MAN antigens colocalized with both types of lamins at the periphery of the nucleus, but were absent from intranuclear foci of lamin B. As HeLa cells proceeded into mitosis, MAN antigens were seen to segregate from lamins A/C and coredistribute with lamin B. Lamins A/C disassembled during late prophase/early prometaphase and reassociated with chromatin in telophase/cytokinesis. In contrast, MAN antigens and lamin B dispersed late during prometaphase and reassembled on chromosomes in anaphase. Altogether, our data suggest that MAN antigens may play key functions in the maintenance of the structural integrity of the nuclear compartment in vertebrate cells. 相似文献
47.
Summary Pyrolysis mass spectrometry (PyMS) was used to produce biochemical fingerprints from replicate frozen cell cultures of mouse macrophage hybridoma 2C11-12, human leukaemia K562, baby hamster kidney BHK 21/C13, and mouse tumour BW-O, and a fresh culture of Chinese hamster ovary CHO cells. The dimensionality of these data was reduced by the unsupervised feature extraction pattern recognition technique of auto-associative neural networks. The clusters observed were compared with the groups obtained from the more conventional statistical approaches of hierarchical cluster analysis. It was observed that frozen and fresh cell line cultures gave very different pyrolysis mass spectra. When only the frozen animal cells were analysed by PyMS, auto-associative artificial neural networks (ANNs) were employed to discriminate between them successfully. Furthermore, very similar classifications were observed when the same spectral data were analysed using hierarchical cluster analysis. We demonstrate that this approach can detect the contamination of cell lines with low numbers of bacteria and fungi; this approach could plausibly be extended for the rapid detection of mycoplasma infection in animal cell lines. The major advantages that PyMS offers over more conventional methods used to type cell lines and to screen for microbial infection, such as DNA fingerprinting, are its speed, sensitivity and the ability to analyse hundreds of samples per day. We conclude that the combination of PyMS and ANNs can provide a rapid and accurate discriminatory technique for the authentication of animal cell line cultures. 相似文献
48.
49.
Elisabeth Steichen-Gersdorf Holly H. Gallion Deborah Ford Catherine Girodet Douglas F. Easton Richard A. DiCioccio Gareth Evans Margaret A. Ponder Carole Pye Sylvie Mazoyer Tetsuro Noguchi Fabienne Karengueven Hagay Sobol A. Hardouin Yves-Jean Bignon M. Steven Piver Simon A. Smith Bruce A. J. Ponder 《American journal of human genetics》1994,55(5):870-875
In a study of nine families with “site-specific” ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age <50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-21. If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32–1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46–1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive. 相似文献
50.
A Common Region of Deletion on Chromosome 17q in Both Sporadic and Familial Epithelial Ovarian Tumors Distal to BRCA1 总被引:2,自引:1,他引:1
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)
Andrew K. Godwin Lisa Vanderveer David C. Schultz Henry T. Lynch Deborah A. Altomare Kenneth H. Buetow Mary Daly Lori A. Getts Agnes Masny Norman Rosenblum Michael Hogan Robert F. Ozols Thomas C. Hamilton 《American journal of human genetics》1994,55(4):666-677
Linkage analysis in familial breast and ovarian cancer and studies of allelic deletion in sporadic ovarian tumors have identified a region on chromosome 17q containing a candidate tumor-suppressor gene (referred to as BRCA1) of likely importance in ovarian carcinogenesis. We have examined normal and tumor DNA samples from 32 patients with sporadic and 8 patients with familial forms of the disease, for loss of heterozygosity (LOH) at 21 loci on chromosome 17 (7 on 17p and 14 on 17q). LOH on 17p was 55% (22/40) for informative 17pl3.1 and 17pl3.3 markers. When six polymorphic markers flanking the familial breast/ovarian cancer susceptibility locus on 17ql2-q21 were used, LOH was 58% (23/40), with one tumor showing telomeric retention. Evaluation of a set of markers positioned telomeric to BRCA1 resulted in the highest degree of LOH, 73% (29/40), indicating that a candidate locus involved in ovarian cancer may reside distal to BRCA1. Five of the tumors demonstrating allelic loss for 17q markers were from individuals with a strong family history of breast and ovarian cancer. More important, two of these tumors (unique patient number [UPN] 57 and UPN 79) retained heterozygosity for all informative markers spanning the BRCA1 locus but showed LOH at loci distal to but not including the anonymous markers CMM86 (D17S74) and 42D6 (D17S588), respectively. Deletion mapping of seven cases (two familial and five sporadic) showing limited LOH on 17q revealed a common region of deletion, distal to GH and proximal to D17S4, that spans −25 cM. These results suggest that a potential tumor-suppressor gene involved in both sporadic and familial ovarian cancer may reside on the distal portion of chromosome 17q and is distinct from the BRCA1 gene. 相似文献