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排序方式: 共有1015条查询结果,搜索用时 28 毫秒
71.
Repression of interferon regulatory factor 1 by hepatitis C virus core protein results in inhibition of antiviral and immunomodulatory genes 总被引:3,自引:0,他引:3
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72.
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
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Crisponi L Crisponi G Meloni A Toliat MR Nurnberg G Usala G Uda M Masala M Hohne W Becker C Marongiu M Chiappe F Kleta R Rauch A Wollnik B Strasser F Reese T Jakobs C Kurlemann G Cao A Nurnberg P Rutsch F 《American journal of human genetics》2007,80(5):971-981
Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling neonatal tetanus, large face, broad nose, anteverted nares, camptodactyly, hyperthermia, and sudden death in most cases. We performed homozygosity mapping in five Sardinian and three Turkish families with Crisponi syndrome, using high-density single-nucleotide polymorphism arrays, and identified a critical region on chromosome 19p12-13.1. The most prominent candidate gene was CRLF1, recently found to be involved in the pathogenesis of cold-induced sweating syndrome type 1 (CISS1). CISS1 belongs to a group of conditions with overlapping phenotypes, also including cold-induced sweating syndrome type 2 and Stuve-Wiedemann syndrome. All these syndromes are caused by mutations of genes of the ciliary neurotrophic factor (CNTF)-receptor pathway. Here, we describe the identification of four different CRLF1 mutations in eight different Crisponi-affected families, including a missense mutation, a single-nucleotide insertion, and a nonsense and an insertion/deletion (indel) mutation, all segregating with the disease trait in the families. Comparison of the mutation spectra of Crisponi syndrome and CISS1 suggests that neither the type nor the location of the CRLF1 mutations points to a phenotype/genotype correlation that would account for the most severe phenotype in Crisponi syndrome. Other, still-unknown molecular factors may be responsible for the variable phenotypic expression of the CRLF1 mutations. We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1. 相似文献
73.
Sol-Foulon N Sourisseau M Porrot F Thoulouze MI Trouillet C Nobile C Blanchet F di Bartolo V Noraz N Taylor N Alcover A Hivroz C Schwartz O 《The EMBO journal》2007,26(2):516-526
HIV efficiently spreads in lymphocytes, likely through virological synapses (VSs). These cell-cell junctions share some characteristics with immunological synapses, but cellular proteins required for their constitution remain poorly characterized. We have examined here the role of ZAP-70, a key kinase regulating T-cell activation and immunological synapse formation, in HIV replication. In lymphocytes deficient for ZAP-70, or expressing a kinase-dead mutant of the protein, HIV replication was strikingly delayed. We have characterized further this replication defect. ZAP-70 was dispensable for the early steps of viral cycle, from entry to expression of viral proteins. However, in the absence of ZAP-70, intracellular Gag localization was impaired. ZAP-70 was required in infected donor cells for efficient cell-to-cell HIV transmission to recipients and for formation of VSs. These results bring novel insights into the links that exist between T-cell activation and HIV spread, and suggest that HIV usurps components of the immunological synapse machinery to ensure its own spread through cell-to-cell contacts. 相似文献
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75.
Appino S Pregel P Manuali E Vincenti L Rota A Carnieletto P Tiberi C Bollo E 《Animal reproduction science》2007,98(3-4):350-356
Bovine infertility is a major cause of loss in the livestock industry. In the present study bovine oviduct cell cultures were infected with a Chlamydophila abortus strain. A direct evaluation of infection was performed by means of May Grünwald-Giemsa and immunocytochemistry for chlamydial LPS, which revealed inclusion bodies and vacuolisation. SEM and TEM analysis of infected cells showed various degrees of cell damage and conglutination of microvilli. This finding suggests that cattle infertility may result from an alteration of oviduct environment caused by multiplication of C. abortus. This microorganism, among other infectious agents, could be considered a potential causative agent of bovine infertility. 相似文献
76.
The phylogeny of polar fishes and the structure,function and molecular evolution of hemoglobin 总被引:1,自引:0,他引:1
Fishes thriving in polar habitats offer many opportunities for comparative approaches to understanding protein thermal adaptations.
Investigations on the remarkable evolutionary adaptations to these environments of basic proteins such as hemoglobin, the
oxygen carrier, can provide new insights into the mechanisms studied in temperate organisms and can shed light on convergent
processes evolved in response to thermal adaptations. At the molecular level, hemoglobins are one of the most intriguing systems
for studying the relationships between environmental conditions and adaptations. This review summarizes the current knowledge
on molecular structure, biological function and phylogeny of hemoglobins of fish species living in both polar habitats but
having different evolutionary histories. In benthic, non-migratory, cold-adapted fishes, the stability of thermal conditions
may have generated no or few variations in selective pressures on globin sequences through evolutionary time, so that sequences
retain the species phylogenetic “signal”. In pelagic, migratory, cold-adapted or temperate fishes, variations in selective
pressures on globin sequences caused by variations in temperature accompanying the dynamic life style may have disrupted the
phylogenetic “signal” in phenetic trees. 相似文献
77.
78.
Cinzia Comino Sergio Lanteri Ezio Portis Alberto Acquadro Annalisa Romani Alain Hehn Romain Larbat Frédéric Bourgaud 《BMC plant biology》2007,7(1):14
Background
Cynara cardunculus L. is an edible plant of pharmaceutical interest, in particular with respect to the polyphenolic content of its leaves. It includes three taxa: globe artichoke, cultivated cardoon, and wild cardoon. The dominating phenolics are the di-caffeoylquinic acids (such as cynarin), which are largely restricted to Cynara species, along with their precursor, chlorogenic acid (CGA). The scope of this study is to better understand CGA synthesis in this plant. 相似文献79.
Francesca Ghirga Federica Aiello Sara Toscano Cinzia Ingallina Mariangela Siler Danilo Cucchi Agnese Po Evelina Miele Davide D'Amico Gianluca Canettieri Enrico De Smaele Elisabetta Ferretti Isabella Screpanti Gloria Uccello Barretta Maurizio Botta Bruno Botta Alberto Gulino Lucia Di Marcotullio 《The EMBO journal》2015,34(2):200-217
80.