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121.
122.
Samir B Amin Parantu K Shah Aimin Yan Sophia Adamia Stéphane Minvielle Hervé Avet-Loiseau Nikhil C Munshi Cheng Li 《BMC bioinformatics》2011,12(1):72
Background
Genome-wide expression signatures are emerging as potential marker for overall survival and disease recurrence risk as evidenced by recent commercialization of gene expression based biomarkers in breast cancer. Similar predictions have recently been carried out using genome-wide copy number alterations and microRNAs. Existing software packages for microarray data analysis provide functions to define expression-based survival gene signatures. However, there is no software that can perform survival analysis using SNP array data or draw survival curves interactively for expression-based sample clusters. 相似文献123.
Munshi A Sharma V Kaul S Al-Hazzani A Alshatwi AA Shafi G Koppula R Mallemoggala SB Jyothy A 《Molecular biology reports》2012,39(2):1677-1682
Genetic variants of cytochrome P450 4F2 (CYP4F2) gene have been suggested to be risk factors for hypertension, cardiovascular
diseases and stroke. In the present case–control study we investigated the association of 1347 G/A polymorphism (rs2108622)
in the 11th exon region of CYP4F2 gene with hypertension, ischemic stroke and stroke subtypes classified according to TOAST
(Trial of Org 10172 in Acute Stroke Treatment) classification. Five hundred and seven stroke patients (hypertensives: normotensives = 279:228)
and four hundred and eighty seven, age and sex matched controls (males: females = 356:131) (hypertensives: normotensives = 148:339)
were involved in the study. The genotypes were determined by PCR-RFLP technique. Genotypes were confirmed by subjecting the
PCR products to sequencing. Significant difference was observed in the genotypic distribution and allelic frequency between
the stroke patients and healthy controls. AA genotype and A allele associated significantly with stroke and hypertension [P = 0.009; OR = 1.59 (95% CI = 1.119–2.283) and P = 0.010; OR = 1.26 (95% CI = 1.056–1.502); P = 0.01; OR = 1.58 (95% CI = 1.11–2.272) and P = 0.010; OR = 1.25(95% CI = 1.054–1.504) respectively]. A stepwise logistic regression analysis confirmed these findings.
To establish that this polymorphism is associated with stroke independent of hypertension; we compared stroke patients without
hypertension with normotensive controls. Significant difference was observed in genotypic distribution and allelic frequency
between the two groups (P = 0.001 and 0.002 respectively). Evaluating the association of this polymorphism with stroke subtypes we found significant
associations with cardioembolic stroke (P < 0.001). In conclusion our study suggests that 1347A allele of CYP4F2 gene is an important risk factor for hypertension
and ischemic stroke. 相似文献
124.
Invasive species stand accused of a familiar litany of offences, including displacing native species, disrupting ecological processes and causing billions of dollars in ecological damage (Cox 1999 ). Despite these transgressions, invasive species have at least one redeeming virtue – they offer us an unparalleled opportunity to investigate colonization and responses of populations to novel conditions in the invaded habitat (Elton 1958 ; Sakai et al. 2001 ). Invasive species are by definition colonists that have arrived and thrived in a new location. How they are able to thrive is of great interest, especially considering a paradox of invasion (Sax & Brown 2000 ): if many populations are locally adapted (Leimu & Fischer 2008 ), how could species introduced into new locations become so successful? One possibility is that populations adjust to the new conditions through plasticity – increasing production of allelopathic compounds (novel weapons), or taking advantage of new prey, for example. Alternatively, evolution could play a role, with the populations adapting to the novel conditions of the new habitat. There is increasing evidence, based on phenotypic data, for rapid adaptive evolution in invasive species (Franks et al. 2012 ; Colautti & Barrett 2013 ; Sultan et al. 2013 ). Prior studies have also demonstrated genetic changes in introduced populations using neutral markers, which generally do not provide information on adaptation. Thus, the genetic basis of adaptive evolution in invasive species has largely remained unknown. In this issue of Molecular Ecology, Vandepitte et al. ( 2014 ) provide some of the first evidence in invasive populations for molecular genetic changes directly linked to adaptation. 相似文献
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126.
The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals 下载免费PDF全文
Roeland Vanhauwaert Sabine Kuenen Roy Masius Adekunle Bademosi Julia Manetsberger Nils Schoovaerts Laura Bounti Serguei Gontcharenko Jef Swerts Sven Vilain Marina Picillo Paolo Barone Shashini T Munshi Femke MS de Vrij Steven A Kushner Natalia V Gounko Wim Mandemakers Vincenzo Bonifati Frederic A Meunier Sandra‐Fausia Soukup Patrik Verstreken 《The EMBO journal》2017,36(10):1392-1411
Presynaptic terminals are metabolically active and accrue damage through continuous vesicle cycling. How synapses locally regulate protein homeostasis is poorly understood. We show that the presynaptic lipid phosphatase synaptojanin is required for macroautophagy, and this role is inhibited by the Parkinson's disease mutation R258Q. Synaptojanin drives synaptic endocytosis by dephosphorylating PI(4,5)P2, but this function appears normal in SynaptojaninRQ knock‐in flies. Instead, R258Q affects the synaptojanin SAC1 domain that dephosphorylates PI(3)P and PI(3,5)P2, two lipids found in autophagosomal membranes. Using advanced imaging, we show that SynaptojaninRQ mutants accumulate the PI(3)P/PI(3,5)P2‐binding protein Atg18a on nascent synaptic autophagosomes, blocking autophagosome maturation at fly synapses and in neurites of human patient induced pluripotent stem cell‐derived neurons. Additionally, we observe neurodegeneration, including dopaminergic neuron loss, in SynaptojaninRQ flies. Thus, synaptojanin is essential for macroautophagy within presynaptic terminals, coupling protein turnover with synaptic vesicle cycling and linking presynaptic‐specific autophagy defects to Parkinson's disease. 相似文献
127.
128.
Sparey T Abeywickrema P Almond S Brandon N Byrne N Campbell A Hutson PH Jacobson M Jones B Munshi S Pascarella D Pike A Prasad GS Sachs N Sakatis M Sardana V Venkatraman S Young MB 《Bioorganic & medicinal chemistry letters》2008,18(11):3386-3391
The 'NMDA hypofunction hypothesis of schizophrenia' can be tested in a number of ways. DAO is the enzyme primarily responsible for the metabolism of d-serine, a co-agonist for the NMDA receptor. We identified novel DAO inhibitors, in particular, acid 1, which demonstrated moderate potency for DAO in vitro and ex vivo, and raised plasma d-serine levels after dosing ip to rats. In parallel, analogues were prepared to survey the SARs of 1. 相似文献
129.
Batchu RB Shammas MA Wang JY Munshi NC 《The Journal of biological chemistry》2001,276(26):24315-24322
130.
OBJECTIVE: To test the sensitivity of fine needle capillary sampling (FNCS) as compared to scrape cytology in cervical carcinoma, stage III and IV, and to study the quality of material obtained by FNCS. STUDY DESIGN: Prospective. In 48 cases of cervical carcinoma, clinically stage III and IV, FNCS was done along with scrape cytology. The results were compared, considering histopathology as the gold standard. The quality of material obtained by both methods was compared using the parameters background, cellularity and cellular preservation. RESULTS: FNCS had a sensitivity of 87.5% as against 62.5% for scrape cytology. Material obtained by FNCS had a cleaner background and better cellularity and morphologic preservation. CONCLUSION: FNCS is superior to scrape cytology for the diagnosis of stage III and IV cervical carcinoma. 相似文献