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排序方式: 共有1018条查询结果,搜索用时 62 毫秒
1.
2.
Lino Piccinini Paola Borella Annalisa Bargellini Cristina Incerti Medici Alessandra Zoboli 《Biological trace element research》1996,51(1):23-30
The purpose of our study was to investigate the relationship between plasma and hair levels of Se, Zn, and Cu, and cancer.
We selected a total of 66 patients affected by either breast (38) or lung (28) cancer. They entered into the study at the
onset of disease, and before any chemical or radiotherapy. Controls were randomly selected among healthy people and were matched
for sex, age, smoking habits, and residence. In the group of breast cancer, a significant decrease in hair Se was found compared
to controls (p<0.01), whereas plasma Se was only slightly decreased. No difference between cases and controls was detected in both hair
and plasma levels of Zn and Cu. Subjects who developed lung cancer were significantly lower in hair Zn (p<0.05) and Cu (p<0.01) than controls, whereas there was no difference with regard to Se. In addition, plasma Cu of these patients was increased
as compared to controls. 相似文献
3.
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. 总被引:5,自引:2,他引:3 下载免费PDF全文
J. B. Sherman N. Raben C. Nicastri Z. Argov H. Nakajima E. M. Adams C. M. Eng T. M. Cowan P. H. Plotz 《American journal of human genetics》1994,55(2):305-313
Phosphofructokinase (PFK) catalyzes the rate-limiting step of glycolysis. Deficiency of the muscle enzyme is manifested by exercise intolerance and a compensated hemolytic anemia. Case reports of this autosomal recessive disease suggest a predominance in Ashkenazi Jews in the United States. We have explored the genetic basis for this illness in nine affected families and surveyed the normal Ashkenazi population for the mutations we have found. Genomic DNA was amplified using PCR, and denaturing gradient-gel electrophoresis was used to localize exons with possible mutations. The polymorphic exons were sequenced or digested with restriction enzymes. A previously described splicing mutation, delta 5, accounted for 11 (61%) of 18 abnormal alleles in the nine families. A single base deletion leading to a frameshift mutation in exon 22 (delta C-22) was found in six of seven alleles. A third mutation, resulting in a nonconservative amino acid substitution in exon 4, accounted for the remaining allele. Thus, three mutations could account for all illness in this group, and two mutations could account for 17 of 18 alleles. In screening 250 normal Ashkenazi individuals for all three mutations, we found only one delta 5 allele. Clinical data revealed no correlation between the particular mutations and symptoms, but male patients were more symptomatic than females, and only males had frank hemolysis and hyperuricemia. Because PFK deficiency in Ashkenazi Jews is caused by a limited number of mutations, screening genomic DNA from peripheral blood for the described mutations in this population should enable rapid diagnosis without muscle biopsy. 相似文献
4.
Annalisa Pezzolo Giorgio Gimelli Amnon Cohen Antonella Lavaggetto Cesare Romano Giuseppina Fogu Orsetta Zuffardi 《Human genetics》1993,92(1):23-27
In situ hybridization of a telomeric (TTA-GGG)
n
sequence to metaphases from three cases of ring chromosome, involving respectively chromosomes 4, 16, and 20, showed the presence of the cognate sequences in all three rings. To investigate whether these ring chromosomes originated by telomere-telomere fusion, we determined, by in situ hybridization, whether telomere-associated sequences and/or specific distal sequences were still present in the ring chromosomes. The finding that these sequences were preserved in all the ring chromosomes strongly indicates that they originated by telomere-telomere fusion. All three subjects carrying the ring chromosomes are affected by the so-called ring syndrome, with failure to thrive, minor dysmorphic signs and no major anomalies. The r(4) patient has the ring in mosaic form with a normal cell line and has normal intelligence. The r(16) and the r(20) patients have moderate mental retardation and suffer from seizures. We conclude that the ring syndrome, even in its more severe manifestation, is caused by ring chromosome instability. 相似文献
5.
E. Baldini Osvaldo Facini Fabrizio Nerozzi Federica Rossi Annalisa Rotondi 《Trees - Structure and Function》1997,12(2):73-81
Light partition has been examined and evaluated on five woody species (Olea europaea, Ficus carica, Pittosporum tobira, Hedera helix maculata, Persica vulgaris) in relation to their leaf morpho-histological characteristics, water and chlorophyll contents. Leaf parameters and optical
properties (reflectance, transmittance, absorbance) in PAR, FR and NIR wavebands (400–1100 nm) were preliminarily submitted
to a canonical correlation analysis where lamina thickness and water content showed a leading role in determining all the
optical properties, while chlorophyll, influential in the PAR region, was remarkably effective only in an extreme pigment
situation when green and albino patches of ivy leaves were compared. Transmittance appeared inversely related to lamina thickness
in accordance with the Lambert Beer law. Significant correlations were found also between mesophyll water content and both
transmittance (positive) and reflectance (negative). Olive leaves showed peculiar optical patterns because of the dense and
continuous trichome layer on their abaxial surface.
Received: 3 January 1997 / Accepted: 5 May 1997 相似文献
6.
Annalisa Botta Elizabeth A. Lindsay Vesna Jurecic Antonio Baldini 《Mammalian genome》1997,8(12):890-895
We have constructed a comparative map in mouse of the critical region of human 22q11 deleted in DiGeorge (DGS) and Velocardiofacial
(VCFS) syndromes. The map includes 11 genes potentially haploinsufficient in these deletion syndromes. We have localized all
the conserved genes to mouse Chromosome (Chr) 16, bands B1-B3. The determination of gene order shows the presence of two regions
(distal and proximal), containing two groups of conserved genes. The gene order in the two regions is not completely conserved;
only in the proximal group is the gene order identical to human. In the distal group the gene order is inverted. These two
regions are separated by a DNA segment containing at least one gene which, in the human DGS region, is the most proximal of
the known deleted genes. In addition, the gene order within the distal group of genes is inverted relative to the human gene
order. Furthermore, a clathrin heavy chain-like gene was not found in the mouse genome by DNA hybridization, indicating that
there is an inconsistent level of gene conservation in the region. These and other independent data obtained in our laboratory
clearly show a complex evolutionary history of the DGS-VCFS region. Our data provide a framework for the development of a
mouse model for the 22q11 deletion with chromosome engineering technologies.
Received: 8 July 1997 / Accepted 11 August 1997 相似文献
7.
Nuclear protein synthesis has been studied in regenerating rat hepatocytes after partial hepatectomy and α-amanitin treatment. The toxin induced a marked and precocious inhibition of histone synthesis without affecting the acidic nuclear proteins. This inhibition preceded the inhibition of DNA synthesis. The modification of polyribosome profile and of [14C]lysine incorporation on synthesized polypeptides were consistent with a reduction of specific mRNAs. 相似文献
8.
Annalisa Cossu Anna Maria Posadino Roberta Giordo Costanza Emanueli Anna Maria Sanguinetti Amalia Piscopo Marco Poiana Giampiero Capobianco Antonio Piga Gianfranco Pintus 《PloS one》2012,7(11)
The cardiovascular benefits associated with diets rich in fruit and vegetables are thought to be due to phytochemicals contained in fresh plant material. However, whether processed plant foods provide the same benefits as unprocessed ones is an open question. Melanoidins from heat-processed apricots were isolated and their presence confirmed by colorimetric analysis and browning index. Oxidative injury of endothelial cells (ECs) is the key step for the onset and progression of cardiovascular diseases (CVD), therefore the potential protective effect of apricot melanoidins on hydrogen peroxide-induced oxidative mitochondrial damage and cell death was explored in human ECs. The redox state of cytoplasmic and mitochondrial compartments was detected by using the redox-sensitive, fluorescent protein (roGFP), while the mitochondrial membrane potential (MMP) was assessed with the fluorescent dye, JC-1. ECs exposure to hydrogen peroxide, dose-dependently induced mitochondrial and cytoplasmic oxidation. Additionally detected hydrogen peroxide-induced phenomena were MMP dissipation and ECs death. Pretreatment of ECs with apricot melanoidins, significantly counteracted and ultimately abolished hydrogen peroxide-induced intracellular oxidation, mitochondrial depolarization and cell death. In this regard, our current results clearly indicate that melanoidins derived from heat-processed apricots, protect human ECs against oxidative stress. 相似文献
9.
Piero Ruggenenti Paolo Cravedi Eliana Gotti Annarita Plati Maddalena Maras Silvio Sandrini Nicola Bossini Franco Citterio Enrico Minetti Domenico Montanaro Ettore Sabadini Regina Tardanico Davide Martinetti Flavio Gaspari Alessandro Villa Annalisa Perna Francesco Peraro Giuseppe Remuzzi 《PLoS medicine》2021,18(6)
BackgroundWe compared protection of mycophenolate mofetil (MMF) and azathioprine (AZA) against acute cellular rejection (ACR) and chronic allograft nephropathy (CAN) in kidney transplant recipients on steroid-free, low-dose cyclosporine (CsA) microemulsion maintenance immunosuppression.Methods and findingsATHENA, a pragmatic, prospective, multicenter trial conducted by 6 Italian transplant centers, compared the outcomes of 233 consenting recipients of a first deceased donor kidney transplant induced with low-dose thymoglobulin and basiliximab and randomized to MMF (750 mg twice/day, n = 119) or AZA (75 to 125 mg/day, n = 114) added-on maintenance low-dose CsA microemulsion and 1-week steroid. In patients without acute clinical or subclinical rejections, CsA dose was progressively halved. Primary endpoint was biopsy-proven CAN. Analysis was by intention to treat.Participants were included between June 2007 and July 2012 and followed up to August 2016. Between-group donor and recipient characteristics, donor/recipient mismatches, and follow-up CsA blood levels were similar. During a median (interquartile range (IQR)) follow-up of 47.7 (44.2 to 48.9) months, 29 of 87 biopsied patients on MMF (33.3%) versus 31 of 88 on AZA (35.2%) developed CAN (hazard ratio (HR) [95% confidence interval (CI)]: 1.147 (0.691 to 1.904, p = 0.595). Twenty and 21 patients on MMF versus 34 and 14 on AZA had clinical [HR (95% CI): 0.58 (0.34 to 1.02); p = 0.057) or biopsy-proven subclinical [HR (95% CI): 1.49 (0.76 to 2.92); p = 0.249] ACR, respectively. Combined events [HR (95% CI): 0.85 (0.56 to 1.29); p = 0.438], patient and graft survival, delayed graft function (DGF), 3-year glomerular filtration rate (GFR) [53.8 (40.6;65.7) versus 49.8 (36.8;62.5) mL/min/1.73 m2, p = 0.50], and adverse events (AEs) were not significantly different between groups.Chronicity scores other than CAN predict long-term graft outcome. Study limitations include small sample size and unblinded design.ConclusionsIn this study, we found that in deceased donor kidney transplant recipients on low-dose CsA and no steroids, MMF had no significant benefits over AZA. This finding suggests that AZA, due to its lower costs, could safely replace MMF in combination with minimized immunosuppression.Trial registrationClinicalTrials.gov ; NCT00494741EUDRACT 2006-005604-14.Piero Ruggenenti and co-workers study maintenance immunosuppression in deceased-donor kidney transplantation. 相似文献