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排序方式: 共有137条查询结果,搜索用时 15 毫秒
31.
Hoischen A van Bon BW Rodríguez-Santiago B Gilissen C Vissers LE de Vries P Janssen I van Lier B Hastings R Smithson SF Newbury-Ecob R Kjaergaard S Goodship J McGowan R Bartholdi D Rauch A Peippo M Cobben JM Wieczorek D Gillessen-Kaesbach G Veltman JA Brunner HG de Vries BB 《Nature genetics》2011,43(8):729-731
Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous. 相似文献
32.
Bovee D Zhou Y Haugen E Wu Z Hayden HS Gillett W Tuzun E Cooper GM Sampas N Phelps K Levy R Morrison VA Sprague J Jewett D Buckley D Subramaniam S Chang J Smith DR Olson MV Eichler EE Kaul R 《Nature genetics》2008,40(1):96-101
The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the human genome. Here we report 2,488,842 bp of previously unknown euchromatic sequence, 363,114 bp of which close 26 of 250 euchromatic gaps, or 10%, including two remaining euchromatic gaps on chromosome 19. Eight (30.7%) of the closed gaps were found to be polymorphic. These sequences allow complete annotation of several human genes as well as the assignment of mRNAs. The gap sequences are 2.3-fold enriched in segmentally duplicated sequences compared to the whole genome. Our analysis confirms that not all gaps within 'finished' genomes are recalcitrant to subcloning and suggests that the paired-end-sequenced fosmid libraries could prove to be a rich resource for completion of the human euchromatic genome. 相似文献
33.
Sarin KY Cheung P Gilison D Lee E Tennen RI Wang E Artandi MK Oro AE Artandi SE 《Nature》2005,436(7053):1048-1052
TERT, the protein component of telomerase, serves to maintain telomere function through the de novo addition of telomere repeats to chromosome ends, and is reactivated in 90% of human cancers. In normal tissues, TERT is expressed in stem cells and in progenitor cells, but its role in these compartments is not fully understood. Here we show that conditional transgenic induction of TERT in mouse skin epithelium causes a rapid transition from telogen (the resting phase of the hair follicle cycle) to anagen (the active phase), thereby facilitating robust hair growth. TERT overexpression promotes this developmental transition by causing proliferation of quiescent, multipotent stem cells in the hair follicle bulge region. This new function for TERT does not require the telomerase RNA component, which encodes the template for telomere addition, and therefore operates through a mechanism independent of its activity in synthesizing telomere repeats. These data indicate that, in addition to its established role in extending telomeres, TERT can promote proliferation of resting stem cells through a non-canonical pathway. 相似文献
34.
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome 总被引:3,自引:0,他引:3
van Bokhoven H Celli J van Reeuwijk J Rinne T Glaudemans B van Beusekom E Rieu P Newbury-Ecob RA Chiang C Brunner HG 《Nature genetics》2005,37(5):465-467
Feingold syndrome is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, syndactyly and cardiac defect. We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome. All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and postnatal brain growth in humans are tightly regulated by MYCN dosage. 相似文献
35.
Regulation of intracellular calcium by a signalling complex of IRAG, IP3 receptor and cGMP kinase Ibeta 总被引:8,自引:0,他引:8
Schlossmann J Ammendola A Ashman K Zong X Huber A Neubauer G Wang GX Allescher HD Korth M Wilm M Hofmann F Ruth P 《Nature》2000,404(6774):197-201
Calcium release from the endoplasmic reticulum controls a number of cellular processes, including proliferation and contraction of smooth muscle and other cells. Calcium release from inositol 1,4,5-trisphosphate (IP3)-sensitive stores is negatively regulated by binding of calmodulin to the IP3 receptor (IP3R) and the NO/cGMP/cGMP kinase I (cGKI) signalling pathway. Activation of cGKI decreases IP3-stimulated elevations in intracellular calcium, induces smooth muscle relaxation and contributes to the antiproliferative and pro-apoptotic effects of NO/cGMP. Here we show that, in microsomal smooth muscle membranes, cGKIbeta phosphorylated the IP3R and cGKIbeta, and a protein of relative molecular mass 125,000 which we now identify as the IP3R-associated cGMP kinase substrate (IRAG). These proteins were co-immunoprecipitated by antibodies directed against cGKI, IP3R or IRAG. IRAG was found in many tissues including aorta, trachea and uterus, and was localized perinuclearly after heterologous expression in COS-7 cells. Bradykinin-stimulated calcium release was not affected by the expression of either IRAG or cGKIbeta, which we tested in the absence and presence of cGMP. However, calcium release was inhibited after co-expression of IRAG and cGKIbeta in the presence of cGMP. These results identify IRAG as an essential NO/cGKI-dependent regulator of IP3-induced calcium release. 相似文献
36.
37.
Drori Ben-Ishay Ruth Saliternik A. Welner 《Cellular and molecular life sciences : CMLS》1972,28(11):1321-1322
Résumé La réponse au régime Doca-sel (D. S.) a été utilisée comme critère de sélection pour séparer, par croisement consanguin, deux colonies de rats manifestant une susceptibilité bien différente à l'hypertension artérielle. Les résultats obtenus dans la 6ème génération de nos colonies normotensive et hypertensive font l'objet de ce raport. Le rôle des facteurs héréditaires dans la susceptibilité ou la résistance à l'hypertension du type D. S. est démontrée. 相似文献
38.
Chi-Hua Wang Sheri M. Linnell Ruth Rosenblum Nancy Wang 《Cellular and molecular life sciences : CMLS》1971,27(3):243-244
Résumé Le N-Benzyl-1,4-dihydronicotinamide réduit, par un mécanisme redox de transfert d'un électron, laliaison disulfide de plusieurs disulfides organiques tels que le diphényl disulfide, l'-lipoamide et le tétraméthylthiuram disulfide. Les réactions chimiques sont comparées à l'oxydation enzymique de la nicotinamide-adénine nucléotide. 相似文献
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