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排序方式: 共有189条查询结果,搜索用时 31 毫秒
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Stephens P Hunter C Bignell G Edkins S Davies H Teague J Stevens C O'Meara S Smith R Parker A Barthorpe A Blow M Brackenbury L Butler A Clarke O Cole J Dicks E Dike A Drozd A Edwards K Forbes S Foster R Gray K Greenman C Halliday K Hills K Kosmidou V Lugg R Menzies A Perry J Petty R Raine K Ratford L Shepherd R Small A Stephens Y Tofts C Varian J West S Widaa S Yates A Brasseur F Cooper CS Flanagan AM Knowles M Leung SY Louis DN Looijenga LH Malkowicz B Pierotti MA Teh B Chenevix-Trench G 《Nature》2004,431(7008):525-526
The protein-kinase family is the most frequently mutated gene family found in human cancer and faulty kinase enzymes are being investigated as promising targets for the design of antitumour therapies. We have sequenced the gene encoding the transmembrane protein tyrosine kinase ERBB2 (also known as HER2 or Neu) from 120 primary lung tumours and identified 4% that have mutations within the kinase domain; in the adenocarcinoma subtype of lung cancer, 10% of cases had mutations. ERBB2 inhibitors, which have so far proved to be ineffective in treating lung cancer, should now be clinically re-evaluated in the specific subset of patients with lung cancer whose tumours carry ERBB2 mutations. 相似文献
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Humphray SJ Oliver K Hunt AR Plumb RW Loveland JE Howe KL Andrews TD Searle S Hunt SE Scott CE Jones MC Ainscough R Almeida JP Ambrose KD Ashwell RI Babbage AK Babbage S Bagguley CL Bailey J Banerjee R Barker DJ Barlow KF Bates K Beasley H Beasley O Bird CP Bray-Allen S Brown AJ Brown JY Burford D Burrill W Burton J Carder C Carter NP Chapman JC Chen Y Clarke G Clark SY Clee CM Clegg S Collier RE Corby N Crosier M Cummings AT Davies J Dhami P Dunn M Dutta I Dyer LW Earthrowl ME Faulkner L 《Nature》2004,429(6990):369-374
Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection. 相似文献
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C. H. Clarke 《Cellular and molecular life sciences : CMLS》1961,17(11):499-501
Résumé L'auteur décrit un mutant auxotrophe pour l'arginine chezSalmonella typhimurium. Les prototrophes arg+ sont induits par les rayons UV, MnCl2 et méthane sulfonate d'éthyle. Le-propiolactone est moins efficace pour l'induction des arg+. La transduction avec le bactériophage PLT-22 cultivé sur une souche prototrophe donne arg+ à une fréquence de 1/107 bactériophages. Le mutant arg– est fécond ni avec les souches d'Escherichia coli K-12 HfrC et HfrH ni avec trois souches deKlebsiella pneumoniae.
I am very grateful to Professor D. G.Catcheside, F.R.S., for his invaluable encouragement and advice, and to the Agricultural Research Council for the award of a Research Studentship. 相似文献
I am very grateful to Professor D. G.Catcheside, F.R.S., for his invaluable encouragement and advice, and to the Agricultural Research Council for the award of a Research Studentship. 相似文献
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A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection 总被引:25,自引:0,他引:25
Jouanguy E Lamhamedi-Cherradi S Lammas D Dorman SE Fondanèche MC Dupuis S Döffinger R Altare F Girdlestone J Emile JF Ducoulombier H Edgar D Clarke J Oxelius VA Brai M Novelli V Heyne K Fischer A Holland SM Kumararatne DS Schreiber RD Casanova JL 《Nature genetics》1999,21(4):370-378
The immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot. Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication. The mutant alleles encode cell-surface IFNgamma receptors that lack the intra-cytoplasmic domain, which, through a combination of impaired recycling, abrogated signalling and normal binding to IFNgamma exert a dominant-negative effect. We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria. 相似文献