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1.
Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2–5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil. 相似文献
2.
Sulfoconjugates occur ubiquitously as sulfopolysaccharides, sulfolipids and sulfoproteins. A variety of sulfotransferases
catalyze the sulfation process with 3’-phosphoadenosine 5’-phosphosulfate as the sulfate donor. Sulfatases that catalyze the
desulfation of different sulfoconjugates are known to be deficient in a number of genetic storage disorders. 相似文献
3.
The wake and sleep-onset times of a patient with a sleep-wake cycle longer than 24 hr were recorded by the patient for 4 years. During this time, the patient found himself unable to maintain a 24-hr sleep-wake schedule. When treated with 1-2 mg clonazepam, taken nightly, he was able to become entrained to a 24-hr day. Despite entrainment of his sleep-wake cycle, the patient reported depression, lack of motivation and fatigue and chose not to continue taking the drug. 相似文献
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Randolph M. Nesse M.D. 《Human nature (Hawthorne, N.Y.)》1990,1(3):261-289
Emotions can be explained as specialized states, shaped by natural selection, that increase fitness in specific situations. The physiological, psychological, and behavioral characteristics of a specific emotion can be analyzed as possible design features that increase the ability to cope with the threats and opportunities present in the corresponding situation. This approach to understanding the evolutionary functions of emotions is illustrated by the correspondence between (a) the subtypes of fear and the different kinds of threat; (b) the attributes of happiness and sadness and the changes that would be advantageous in propitious and unpropitious situations; and (c) the social emotions and the adaptive challenges of reciprocity relationships. In addition to addressing a core theoretical problem shared by evolutionary and cognitive psychology, explicit formulations of the evolutionary functions of specific emotions are of practical importance for understanding and treating emotional disorders. 相似文献
6.
Lawrence Kass 《Biotechnic & histochemistry》1995,70(5):271-274
Megakaryocytes from normal persons and from patients with immune thrombocytopenic purpura, myelodysplastic disorders, Hypersplenism, and essential thrombocythemia displayed vivid magenta metachromatic staining of the cytoplasm when stained with basic black MSP followed by brief exposure to dilute hydrochloric acid. Under the same conditions, other hematopoietic cells were completely decolorized. Acid fast metachromasia of megakaryocytes facilitates their identification, particularly in cases of small and atypical megakaryocytes found in disease states. 相似文献
7.
Durosinmi M. A. Ojo J. O. Oluwole A. F. Ononye A. F. Akanle O. A. Spyrou N. M. 《Biological trace element research》1994,(1):357-361
The concentrations of a number of elements are determined in the plasma and erythrocytes of 21 Nigerians (11 females, 10 males)
with symptomatic affective disorders (11 depressives, 10 manics) and in 40 normal controls using proton-induced X-ray emission
(PIXE) analysis. The study shows that there is significant elevation of plasma K and Zn, as well as the erythrocyte S in the
patients relative to the controls. The plasma and erythrocyte Cu, and the erythrocyte P, Ca, Fe, and Zn are significantly
lower in the patients compared to the controls. However, the plasma levels of Ca, S, Fe, and Br are similar in both the patients
and the controls. Similarly, the concentrations of K, Br, and Rb show no significant difference in the erythrocytes of patients
and controls. 相似文献
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Type 2 diabetes (T2D) and Alzheimer's disease (AD) are two global epidemics that share several metabolic defects, such as insulin resistance, impaired glucose metabolism, and mitochondrial defects. Importantly, strong evidence demonstrates that T2D significantly increases the risk of cognitive decline and dementia, particularly AD. Here, we provide an overview of the metabolic defects that characterize and link both pathologies putting the focus on mitochondria. The biomarker potential of mitochondrial components and the therapeutic potential of some drugs that target and modulate mitochondria are also briefly discussed. 相似文献