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991.
Angiotensin-converting enzyme ID polymorphism and fitness phenotype in the HERITAGE Family Study. 总被引:12,自引:0,他引:12
T Rankinen L Pérusse J Gagnon Y C Chagnon A S Leon J S Skinner J H Wilmore D C Rao C Bouchard 《Journal of applied physiology》2000,88(3):1029-1035
It has been suggested that genetic variation in the angiotensin-converting enzyme (ACE) gene is associated with physical performance. We studied the association between the ACE insertion (I)/deletion (D) polymorphism and several fitness phenotypes measured before and after 20 wk of a standardized endurance training program in sedentary Caucasian (n = 476) and black (n = 248) subjects. Phenotypes measured were oxygen uptake (VO(2)), work rate, heart rate, minute ventilation, tidal volume, and blood lactate levels during maximal and submaximal [50 W and at 60 and 80% of maximal VO(2) (VO(2 max))] exercise and stroke volume and cardiac output during submaximal exercise (50 W and at 60% VO(2 max)). The ACE ID polymorphism was typed with the three-primer PCR method. Out of 216 association tests performed on 54 phenotypes in 4 groups of participants, only 11 showed significant (P values from 0.042 to 0. 0001) associations with the ACE ID polymorphism. In contrast to previous claims, in Caucasian offspring, the DD homozygotes showed a 14-38% greater increase with training in VO(2 max), VO(2) at 80% of VO(2 max), and all work rate phenotypes and a 36% greater decrease in heart rate at 50 W than did the II homozygotes. No associations were evident in Caucasian parents or black parents or offspring. Thus these data do not support the hypothesis that the ACE ID polymorphism plays a major role in cardiorespiratory endurance. 相似文献
992.
TGF-beta(1) gene-race interactions for resting and exercise blood pressure in the HERITAGE Family Study. 总被引:5,自引:0,他引:5
M A Rivera M Echegaray T Rankinen L Pérusse T Rice J Gagnon A S Leon J S Skinner J H Wilmore D C Rao C Bouchard 《Journal of applied physiology》2001,91(4):1808-1813
We examined the possible association between a transforming growth factor (TGF)-beta(1) gene polymorphism in codon 10 and blood pressure (BP) at rest, in acute response to exercise in the pretrained (sedentary) and trained states, as well as in its training response (Delta) to 20 wk of endurance exercise. Subjects were 257 black and 480 white, healthy sedentary normotensive subjects from the HERITAGE Family Study. The polymorphism was detected by polymerase chain reaction and digestion with the Msp A1 I endonuclease yielding a wild (leucine-10) and a mutant (proline-10) allele. Resting and exercise [50 W plus 60, 80, and 100% maximal oxygen consumption (VO(2)(max))] BP were determined before and after training. Significant (P < 0.05) race-genotype interactions were found for systolic (S) BP in both the sedentary and trained states. Among whites but not in blacks, the TGF-beta(1) genotypes were significantly (P < 0.05) associated with sedentary-state SBP at rest, at 50 W, and at 60 and 100% VO(2)(max)as well as with trained-state SBP at rest and at 80 and 100% VO(2)(max). The leucine-10 homozygotes had significantly (P < 0.05) lower SBP than proline-10 homozygotes. DeltaBP was not significantly associated with genotype. These results support the hypothesis of an association between the TGF-beta(1) marker in codon 10 and SBP at rest and in response to acute exercise in whites but not in blacks. 相似文献
993.
L. Krols Jean-Jacques Martin Gilles David Nicole Van Regemorter Ali Benomar A. Löfgren Giovanni Stevanin Alexandra Dürr Alexis Brice C. Van Broeckhoven 《Human genetics》1997,99(2):225-232
We have previously mapped the gene for autosomal dominant cerebellar ataxia type II (ADCAII) to chromosome 3p12-p21.1 in
a region of 33 cM by using four families of different geographic origin. In this study, we analysed the families with nine
additional simple tandem repeat markers located in the ADCAII candidate region. An extensive clinical evaluation was also
performed in the Belgian family CA-1 on two probably affected and seven at-risk individuals by means of ophthalmological examination
and magnetic resonance imaging. Based on informative recombinants, we were able to reduce the ADCAII candidate region to the
12-cM region between D3S1300 and D3S1285. Furthermore, haplotype analysis among the families suggested that the most likely
location of the ADCAII gene is within the 6.2-cM interval between D3S3698 and D3S1285. Because of the documented anticipation
in ADCAII families, we also analysed family CA-1 with six polymorphic triplet repeat markers located on chromosome 3. None
of these markers showed expanded alleles.
Received: 16 August 1996 / Revised: 7 October 1996 相似文献
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995.
Peter Marynen Fred Van Leuven Jean-Jacques Cassiman Herman Van den Berghe 《Biochimica et Biophysica Acta (BBA)/General Subjects》1984,799(2):187-193
α2-Macroglobulin complexed to proteinases activated during clotting of cystic fibrosis and control sera was quantitated with the complex-specific monoclonal antibody F2B2. Similar amounts of α2-macroglobulin complexes (between 40 and 90 μg/ml) were generated in cystic fibrosis and control sera. Endocystosis of the complexes by normal fibroblasts was compared to the amount of complexes detected by the F2B2-radioimmunoassay. Normal uptake was observed with 13 out of 14 cystic fibrosis sera. One cystic fibrosis serum showed strongly reduced endocytosis of the complexes. Complexes isolated from this serum on immobilized F2B2 failed to inhibit binding of purified α2-macroglobulin-trypsin to its receptor, demonstrating deficient receptor-binding of these complexes. The low complexes could not be distinguised from complexes isolated from control or other cystic fibrosis sera by isoelectric focusing, rate electrophoresis or SDS-polyacrylamide gel electrophoresis. 相似文献
996.
Sylvie Pochet Jean-Jacques Beaussire Laurence Dugué Philippe Marlière 《Nucleosides, nucleotides & nucleic acids》2013,32(4-5):1019-1020
Abstract The synthesis of phosphoric esters linking the 5′ alcohol of thymidine to the alcohol moiety of L-serine derivatives is reported, together with the pyridoxal-catalyzed β-elimination reaction releasing thymidylate from such compounds. The process was extended to the release of thymidine di- and tri-phosphate. 相似文献
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