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1.
Summary Familial occurrence of 1/21 translocation in connection with trisomy 21 was described. The possibilities of inheritance of further chromosome rearrangements arising during the gametogenesis of persons with this translocation were considered. 相似文献
2.
Winter rape ( Brassica napus L., var. olifera cv. Górczanski) seedlings were exposed to hardening conditions and the content and composition of free sterols as well as the ratio of free sterols to total phospholipids were determined. There was a reduction in free sterol content in the leaves at the most advanced stage of hardening. The ratio of free sterol to total phospholipids was significantly reduced by hardening due to a decrease in the level of the former and an increase in that of the latter compounds. There was a negative correlation between this ratio and the temperature at which half of the seedlings died. Thus, adaptation of membranes to temperature takes place also at the level of sterol-phospholipid interactions. Exposing seedlings already hardened to freezing temperatures caused injury higher than 50%, and brought about a drastic increase in the level of free sterols and an elevation in the ratio of free sterols to phospholipids. The results are discussed in terms of a possible role of the molecular architecture of membranes in surviving at subzero temperatures. 相似文献
3.
4.
B Kaczorowska-Hac A Matheisel L Maciejka-Kapuscinska J Wisniewski A Alska E Adamkiewicz-Drozynska A Balcerska I Reszczynska 《Journal of medical case reports》2012,6(1):239
ABSTRACT: INTRODUCTION: Valproic acid is a commonly used anti-epileptic drug. Hematological toxicities are among theoccasionally observed adverse effects of this medication. CASE PRESENTATION: We present the case of a 13-year-old Caucasian boy who demonstrated mild anemia 12months after the introduction of valproic acid therapy. A bone marrow biopsy revealedmaturation arrest of proerythroblasts. CONCLUSION: Prompt diagnosis and valproic acid discontinuation resulted in the patient's recovery. 相似文献
5.
Wisniewska-Jarosinska M Poplawski T Chojnacki CJ Pawlowska E Krupa R Szczepanska J Blasiak J 《Molecular biology reports》2011,38(7):4603-4611
Dental composite materials contain polymers of methacrylates, which, due to mechanical abrasion and enzymatic action of saliva,
may release their monomers into oral cavity and the pulp. Moreover, polymerization is always incomplete and leaves usually
considerable fraction of free monomers. Mechanisms of the genotoxicity of methacrylate monomers have been rarely explored.
As the polymerization of a monomer is catalyzed by a co-monomer, their combined action should be considered. In the present
work, we investigated cytotoxic and genotoxic effects of urethane dimethacrylate (UDMA), often used as a monomer, at 1 mM,
and triethylene glycol dimethacrylate (TEGDMA), a typical co-monomer, at 5 mM singly and in combination. Experiments were
conducted on Chinese hamster ovary cells. Cell viability, apoptosis and cell cycle were assessed by flow cytometry, whereas
DNA damage was evaluated by plasmid conformation test and comet assay. Both compounds decreased the viability of the cells,
but did not induce strand breaks in an isolated plasmid DNA. However, both substances, either singly or in combination, damaged
DNA in CHO cells as evaluated by comet assay. Both compounds induced apoptosis, but a combined action of them led to a decrease
in the number of apoptotic cells. The combined action of UDMA and TEGDMA in the disturbance of cell cycle was lesser compared
to the action of each compound individually. Individually, though UDMA and TEGDMA may induce cytotoxic and genotoxic, however,
a combination of both does not produce a significant increase in these effects. 相似文献
6.
HAX-1 protein, an anti-apoptotic factor, first identified in 1997, is also involved in cell migration, endocytosis and probably mRNA transport. HAX-1 structure indicates similarity to the proteins form Bcl-2 family, although there is no strong homology. HAX-1 is a substrate for Omi/HtrA2, a protease responsible for degradation of the caspases, and functions as an inhibitor of caspase-9, which points to its role in the regulation of apoptosis. Several HAX-1 interactions with proteins involved in apoptosis and cell motility were demonstrated. Another line of inquiry focus on its ability to bind 3' untranslated regions of the certain mRNAs. Some data indicate that it might be involved in mRNA transport. HAX-1 multifunctionality and its involvement in the processes important for the cell status suggest its possible role in oncogenesis and metastasis. It is also known that HAX-1 deficiency or overexpression leads to hereditary or systemic diseases (Kostmann disease, lesional psoriasis, systemic sclerosis). Therefore, detailed analysis of HAX-1 functions could be medically important. 相似文献
7.
Beata S. Lipska Irena Balasz-Chmielewska Lucyna Morzuch Kacper Wasielewski Dominika Vetter Halina Borzecka Dorota Drozdz Agnieszka Firszt-Adamczyk Ewa Gacka Tomasz Jarmolinski Joanna Ksiazek Elzbieta Kuzma-Mroczkowska Mieczyslaw Litwin Anna Medynska Magdalena Silska Maria Szczepanska Marcin Tkaczyk Anna Wasilewska Franz Schaefer Aleksandra Zurowska Janusz Limon 《Journal of applied genetics》2013,54(3):327-333
Hereditary nephrotic syndrome is caused by mutations in a number of different genes, the most common being NPHS2. The aim of the study was to identify the spectrum of NPHS2 mutations in Polish patients with the disease. A total of 141 children with steroid-resistant nephrotic syndrome (SRNS) were enrolled in the study. Mutational analysis included the entire coding sequence and intron boundaries of the NPHS2 gene. Restriction fragment length polymorphism (RFLP) and TaqMan genotyping assay were applied to detect selected NPHS2 sequence variants in 575 population-matched controls. Twenty patients (14 %) had homozygous or compound heterozygous NPHS2 mutations, the most frequent being c.1032delT found in 11 children and p.R138Q found in four patients. Carriers of the c.1032delT allele were exclusively found in the Pomeranian (Kashubian) region, suggesting a founder effect origin. The 14 % NPHS2 gene mutation detection rate is similar to that observed in other populations. The heterogeneity of mutations detected in the studied group confirms the requirement of genetic testing the entire NPHS2 coding sequence in Polish patients, with the exception of Kashubs, who should be initially screened for the c.1032delT deletion. 相似文献
8.
Ewa?Chwe?atiuk Tadeusz?W?ostowskiEmail author Alicja?Krasowska Elzbieta?Bonda 《Biometals》2005,18(3):283-291
Recent study has shown that a short photoperiod increases the accumulation and toxicity of cadmium (Cd) in the bank vole as compared to a long photoperiod. Since many of the effects of photoperiod on physiological processes in small mammals are transduced by the pineal gland and its hormone melatonin, in this study the effect of subchronic melatonin injection (7 mol/kg/day for 6 weeks) on the hepatic, renal and intestinal Cd accumulation in the bank voles raised under a long photoperiod and exposed to dietary Cd (0.9 mol/g) was examined. Simultaneously, histological examinations of the liver and kidneys, and analyses of metallothionein (MT) and lipid peroxidation were carried out. Melatonin co-treatment brought about a significant increase in the hepatic (61%), renal (79%) and intestinal (77%) Cd concentrations as compared to those in the Cd alone group. However, the concentrations of MT in the liver and kidneys of the Cd + melatonin co-treated bank voles did not differ from those in the Cd alone group. Also, histopathological changes in the liver (infiltration of leukocytes) and kidneys (glomerular swelling and a focal tubular cell degeneration) as well as an increase (2-fold) in the renal lipid peroxidation occurred only in animals from the Cd + melatonin group. These data indicate that (1) subchronic melatonin injection has similar effect on the tissue accumulation and toxicity of Cd to that produced by a short photoperiod and (2) the Cd-induced toxicity in the liver and kidneys of melatonin co-treated bank voles is probably due to increased Cd accumulation and decreased synthesis of MT. 相似文献
9.
Effect of aminoguanidine and albendazole on inducible nitric oxide synthase (iNOS) activity in T. spiralis-infected mice muscles 总被引:3,自引:0,他引:3
Zeromski J Boczoń K Wandurska-Nowak E Mozer-Lisewska I 《Folia histochemica et cytobiologica / Polish Academy of Sciences, Polish Histochemical and Cytochemical Society》2005,43(3):157-159
The aim of this study was to provide evidence for the expression of iNOS in the cells of inflammatory infiltrates around larvae in skeletal muscles of T. spiralis infected mice. The BALB/c mice (n = 8) divided into subgroups, received either aminoguanidine (AMG)--a specific iNOS inhibitor or albendazole (ALB)--an antiparasitic drug of choice in trichinellosis treatment. Control animals (n = 2 in each subgroup) were either uninfected and treated or uninfected and untreated. Frozen sections of hind leg muscles from mice sacrificed at various time intervals after infection were cut and subjected to immunohistochemistry, using monoclonal anti-iNOS antibody. The ALB-treated mice revealed stronger iNOS staining in the infiltrating cells around larvae than the infected and untreated animals. On the contrary, in the AMG-treated animals, the infiltrating cells did not show any specific iNOS reaction. These data confirm the specificity of iNOS staining in the cellular infiltrates around T. spiralis larvae and shed some light on the role of nitric oxide during ALB treatment in experimental trichinellosis. 相似文献
10.
Brzuszkiewicz E Thürmer A Schuldes J Leimbach A Liesegang H Meyer FD Boelter J Petersen H Gottschalk G Daniel R 《Archives of microbiology》2011,193(12):883-891
The genome sequences of two Escherichia coli O104:H4 strains derived from two different patients of the 2011 German E. coli outbreak were determined. The two analyzed strains were designated E. coli GOS1 and GOS2 (German outbreak strain). Both isolates comprise one chromosome of approximately 5.31 Mbp and two putative plasmids. Comparisons of the 5,217
(GOS1) and 5,224 (GOS2) predicted protein-encoding genes with various E. coli strains, and a multilocus sequence typing analysis revealed that the isolates were most similar to the entero-aggregative
E. coli (EAEC) strain 55989. In addition, one of the putative plasmids of the outbreak strain is similar to pAA-type plasmids of
EAEC strains, which contain aggregative adhesion fimbrial operons. The second putative plasmid harbors genes for extended-spectrum
β-lactamases. This type of plasmid is widely distributed in pathogenic E. coli strains. A significant difference of the E. coli GOS1 and GOS2 genomes to those of EAEC strains is the presence of a prophage encoding the Shiga toxin, which is characteristic
for enterohemorrhagic E. coli (EHEC) strains. The unique combination of genomic features of the German outbreak strain, containing characteristics from
pathotypes EAEC and EHEC, suggested that it represents a new pathotype Entero-Aggregative-Haemorrhagic E
scherichia
c
oli (EAHEC). 相似文献