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111.
Fine mapping of the Autosomal Dominant Split Hand/Split Foot Locus on Chromosome 7, Band q21.3-q22.1 总被引:6,自引:3,他引:3 下载免费PDF全文
Stephen W. Scherer Parvoneh Poorkaj Todd Allen Julia Kim Dorrit Geshuri Mark Nunes Sylvia Soder Karen Stephens Roberta A. Pagon Michael A. Patton Mary Anne Berg Tim Donlon Horacio Rivera R. A. Pfeiffer Kenji Naritomi Helen Hughes Maurizio Genuardi Fiorella Gurrieri Giovanni Neri Everett Lovrein Ellen Magenis Lap-Chee Tsui James P. Evans 《American journal of human genetics》1994,55(1):12-20
Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22. To characterize the SHFD1 locus, somatic cell hybrid lines were constructed from cytogenetically abnormal individuals with SHFD. Molecular analysis resulted in the localization of 93 DNA markers to one of 10 intervals surrounding the SHFD1 locus. The translocation breakpoints in four SHFD patients were encompassed by the smallest region of overlap among the SHFD-associated deletions. The order of DNA markers in the SHFD1 critical region has been defined as PON–D7S812–SHFD1–D7S811–ASNS. One DNA marker, D7S811, detected altered restriction enzyme fragments in three patients with translocations when examined by pulsed-field gel electro-phoresis (PFGE). These data map SHFD1, a gene that is crucial for human limb differentiation, to a small interval in the q21.3-q22.1 region of human chromosome 7. 相似文献
112.
Desmond C. Raitt Rosemary E. Bradshaw Tim M. Pillar 《Molecular & general genetics : MGG》1994,242(1):17-22
The cytochrome c gene (cycA) of the filamentous fungus Aspergillus nidulans has been isolated and sequenced. The gene is present in a single copy per haploid genome and encodes a polypeptide of 112 amino acid residues. The nucleotide sequence of the A. nidulans cycA gene shows 87% identity to the DNA sequence of the Neurospora crassa cytochrome c gene, and approximately 72% identity to the sequence of the Saccharomyces cerevisiae iso-1-cytochrome c gene (CYC1). The S. cerevisiae CYC1 gene was used as a heterologous probe to isolate the homologous gene in A. nidulans. The A. nidulans cytochrome c sequence contains two small introns. One of these is highly conserved in terms of position, but the other has not been reported in any of the cytochrome c genes so far sequenced. Expression of the cycA gene is not affected by glucose repression, but has been shown to be induced approximatly tenfold in the presence of oxygen and three- to fourfold under heatshock conditions. 相似文献
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Suzanne A. Adjoa Claude Bouchard Pieter Coetzer Tim D. Noakes France T. Dionne 《Human genetics》1994,93(3):347-348
A DNA polymorphism of the nuclear-encoded subunit Va of the human cytochrome c oxidase (COX), a mitochondrial respiratory enzyme, is reported. No polymorphism was detected in genes for the subunits IV and Vb of the same enzyme. 相似文献
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The spatial distributions of selected soil properties in two adjacent sites in southwest Michigan were examined to evaluate the potential effects of chronic disturbance on resource heterogeneity. One site was a cultivated field that had been cleared, plowed, and cropped annually for decades prior to sampling while the other, uncultivated field was cleared of original forest in 1960 after which it was mown annually but never plowed or cropped. We took replicate samples from a 330-point unaligned grid across the sites for soil pH, gravimetric moisture, inorganic phosphorus, total carbon, and net nitrification and nitrogen mineralization potentials. Soils in the cultivated site contained less than half as much carbon as in the uncultivated site, but had higher levels of inorganic phosphorus and moisture, and higher soil pH. Potential net nitrogen mineralization and nitrification rates did not differ between sites. Geostatistical analysis showed that almost all properties examined were strongly autocorelated within each site; structural variance as a proportion of sample variance ranged from 30–95% for all properties, and for any given property differed little between sites. The distance over which this dependence was expressed, however, was for all properties but pH substantially less in the uncultivated site (7–26 m) as compared to the tilled site (48–108m), especially for total C and net nitrification and N mineralization. These results suggest that the spatial pattern and scale of soil variability can differ markedly among edaphically identical sites and that these differences can be related to disturbance history. 相似文献
119.
A recent model of parental provisioning (the tradeoff model) suggests that the maximum delivery rate of food to nestlings represents a tradeoff between parental residual reproductive value and nestling survival. In contrast, Lack's hypothesis suggests that maximum provisioning rate determines brood size and therefore delivery rates are limited by shortages of food or foraging time, not by tradeoffs of parental investment. Several authors have examined the shape of the per-nestling feeding curves to test the tradeoff model against Lack's hypothesis. We show that Lack's hypothesis can produce per-nestling feeding curves consistent with the tradeoff model. Therefore, the shape of the per-nestling feeding curve cannot be used to distinguish between the models. 相似文献
120.
Angela M. Smith Andrew J. Dowd Mary Heffernan Colin D. Robertson John P. Dalton 《International journal for parasitology》1993,23(8):977-983
Adult Fasciola hepatica secrete a cysteine proteinase capable of cleaving host IgG close to the papain cleaving site. The proteinase was separated by size permeation chromatography. Gelatinsubstrate polyacrylamide gel electrophoresis analysis revealed that the proteinase migrates as 6 proteolytic bands in the apparent molecular size range 60–90 kDa. Based on pH profiles of activity, inhibition studies using diethylpyrocarbonate and the diazomethylketone Z-phe-ala-CHN2, and characterising the substrate specificity of the enzymes using fluorogenic peptide substrates we have shown that the 60–90-kDa proteinases are cathepsin L-Iike proteinases. 相似文献