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Erez T. Yirmiya Ehud Mekori‐Domachevsky Ronnie Weinberger Michal Taler Miri Carmel Doron Gothelf 《American journal of medical genetics. Part A》2020,182(3):461-468
22q11.2 deletion syndrome (22q11.DS) is a neurogenetic disorder caused by a microdeletion in chromosome 22. Its phenotype includes high rates of psychiatric disorders, immune system abnormalities, and cognitive impairments. We assessed the quality of sleep in 22q11.2DS and its potential link to inflammatory markers and cognitive deficits. Thirty‐three 22q11.2DS individuals and 24 healthy controls were studied. Sleep parameters were assessed by the Pittsburgh sleep quality index (PSQI) questionnaire and correlated with serum cytokine levels and cognitive functioning, measured using the Penn computerized neurocognitive battery (CNB). The 22q11.2DS individuals had significantly worse sleep quality scores than the controls, unrelated to the psychiatric or physical comorbidities common to 22q11.2DS. Interleukin 6 levels were correlated with the overall score of the PSQI questionnaire for nonpsychotic 22q11.2DS participants only. Several domains of the CNB were associated with poorer sleep quality, suggesting that cognitive impairments in 22q11.2DS may be at least partially explained by poor sleep quality. Our findings confirm sleep impairments in individuals with 22q11.2DS, which might negatively affect their cognitive functioning, and corroborate a potential role of immunological pathways in the 22q11.2DS neuro‐phenotype. 相似文献
3.
Pepsinogens and other serum markers in pernicious anemia 总被引:2,自引:0,他引:2
R Carmel 《American journal of clinical pathology》1988,90(4):442-445
Pepsinogen (PG) I and PG II levels were determined in sera from 147 patients with pernicious anemia. Race, sex, age, gastrin level, and antibody status did not influence pepsinogen levels. PG I values less than 30 micrograms/L were found in 92% of cases and PG I to PG II ratios less than 3.0 in 82% of cases. At least one of these two results was abnormal in 97% of all patients with pernicious anemia. In comparison, results of other blood tests used in the investigation of pernicious anemia were less often abnormal. Serum gastrin level exceeded 200 ng/L in 90% of patients with pernicious anemia and was second to pepsinogen abnormality in diagnostic sensitivity. Results for anti-intrinsic factor antibody were positive in 73% of cases and anti-parietal cell antibody in only 52%. Although its specificity is limited, the presence of low PG I level and/or low PG I-PG II ratio is currently the most sensitive serum indicator for pernicious anemia, and absence of both can be taken as a strong argument against the diagnosis. This highly sensitive test can be combined further with the highly specific serum anti-intrinsic factor antibody test for the presumptive diagnosis of pernicious anemia when definitive tests (the Schilling test or gastric analysis for intrinsic factor) cannot be done or results are inconclusive. 相似文献
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Studies from Africa have demonstrated that black people have higher vitamin B12 (cobalamin) levels than do white people. The authors compared healthy white people, black people, and Latin-Americans in the United States. Their study is also the largest in which the effect of race and sex on the cobalamin levels has been examined. Analysis of 233 healthy subjects showed that black people had significantly higher (P less than 0.0001) vitamin B12 levels than did white people. Latin-Americans had levels intermediate between those of white and black people, although their levels were significantly different only in comparison with white people (P = 0.0029). Based on the study of 305 healthy subjects, no sex difference in vitamin B12 levels was noted. Conflicting claims have been made on sex difference in the past. The authors conclude that there is a racial but not a sex difference in vitamin B12 levels in the United States. Like African black people, black people and Latin-Americans in this country have significantly higher vitamin B12 levels than do white people. This finding supports the thesis that genetic factors contribute to the racial differences in vitamin B12 levels. 相似文献
6.
Transfusion practice in patients with treatable, readily recognizable, chronic anemia was reviewed because such patients only infrequently need to be transfused. Pernicious anemia with hemoglobin concentration below 100 g/L was chosen as the model for this assessment. Sixty-two (51%) of 122 patients received blood transfusion, although most patients had chronic, low-grade symptoms despite their low hemoglobin levels and could have been satisfactorily managed without transfusion. Only 34 of the 122 had findings suggesting an urgent need to raise the blood cell count, but their transfusion rate (44%) was no different from that in patients without such findings. These observations in pernicious anemia indicate that transfusion of patients with medically reversible anemia is a common problem. They further suggest that current transfusion usage overemphasizes laboratory results (ie, hemoglobin levels) at the expense of clinical assessment of severity of symptoms. Improvement of current practice is needed, particularly in view of valid concerns about the serious side effects of transfusion, shortages of available blood resources, and health care costs. 相似文献
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J B Copley 《The American journal of the medical sciences》1986,291(2):101-111
The term "isolated asymptomatic hematuria," as it relates to both gross and microscopic hematuria, is defined; and the pros and cons of detection techniques used to localize the source of the hematuria are discussed. An algorithm is provided to optimize detection of structural defects and intrinsic renal disease in an effort to avoid subjecting the patient with this difficult-to-diagnose problem to unnecessary invasive tests. Although invasive tests should be performed where deemed necessary in the clinician's aggressive search to detect any structural abnormality, controversial areas of the evaluation of these patients are addressed. To justify various branch points of the algorithm, a discussion of both renal cell carcinoma and primary renal hematuria is proffered. 相似文献
9.
Transformation and tumor promoter sensitive phosphoproteins in JB-6 mouse epidermal cells: one is also sensitive to heat stress 总被引:2,自引:0,他引:2
JB-6 mouse epidermal cells undergo irreversible transformationwhen exposed to tumor-promoting agents such as 12-O-tetradecanoyl-phorbol-13-acetate(TPA). Phosphoprotein changes related to transformation weresought in four tumor cell lines related to JB-6 cells. Two dimensionalpolyacrylamide gel electrophoresis showed altered abundancesof five phosphoproteins in the tumor cell lines compared withfive untransformed clones. The mol. wt. in Kilodaltons and isoelectricpoints in pH units were: 120/6.0, 80/ 4.5, 55/6.5, 37/5.0 and2325/4.5. In all four transformants pp80 was markedlydecreased and the pp2325 doublet increased. In two ofthe four transformants pp120 and pp55 were increased and pp37decreased. Treatment of untransformed clones with TPA affectedonly one of the phosphoproteins altered in the transformants.Treatment of untransformed clones with TPA produced a 2-foldincrease in pp80 after 5 h. pp80 returned to baseline levelsby 24 h and changed little in the continuous presence of TPAfor up to 96 h. The increase in pp80 with short term TPA treatmentoccurred in all of the untransformed clones but none of fourtransformants. Late preneoplastic (P +) JB-6 cells only requiretreatment with a tumor promoter to transform. Early preneoplastic(P ) JB-6 cells require prior transfection of DNA fromlate preneoplastic JB-6 cells to transform in response to tumorpromoter treatment. Quantitative analysis of pp80 in early preneoplastic,late preneoplastic, and tumor cell lines showed an inverse relationshipbetween the level of pp80 and degree of preneoplastic progressionin these cells. pp80 represents 2% of total cellular phosphoproteinin JB-6 cells, shows microheterogeneity of both mol. wt. andisoelectric point, occurs in the particulate fraction of cellsand is readily solubilized by 1% Triton. pp80 is increased byheat stress and shares other properties with the recently describedmammalian heat stress protein, hsp 80. pp80's decrease in fourout of four tumor cell lines, inverse correlation with stageof preneoplastic progression and responsiveness to TPA in preneoplasticbut not in tumor cell line suggest that pp80 may be closelylinked to biochemical mechanisms underlying transformation inthis cell system. 相似文献