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Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.
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OBJECTIVE: To compare the prevalence of hereditary metabolic diseases in the native and non-native populations of Manitoba and northwestern Ontario. DESIGN: Retrospective analysis. SETTING: Children's Hospital, Winnipeg. PATIENTS: Patients were selected by three methods: laboratory tests designed to screen patients suspected of having a metabolic disease, laboratory investigation of newborn infants with abnormalities detected through screening, and investigation of near relatives of probands with disease. RESULTS: A total of 138 patients with organic acid, amino acid and carbohydrate disorders were seen from 1960 to 1990. Of these, 49 (36%) were native Indians (Algonkian linguistic group). This was in sharp contrast to the proportion of native Indians in the total study population (5.8%). Congenital lactic acidosis due to pyruvate carboxylase deficiency (13 patients), glutaric aciduria type I (14 patients) and primary hyperoxaluria type II (8 patients) were the most common disorders detected. Other rare disorders included glutaric aciduria type II (one patient), 2-hydroxyglutaric aciduria (one patient) and sarcosinemia (one patient). Underreporting, especially of glutaric aciduria type I and hyperoxaluria type II, was likely in the native population. CONCLUSIONS: Hereditary metabolic diseases are greatly overrepresented in the native population of Manitoba and northwestern Ontario. We recommend that native children who present with illnesses involving disturbances of acid-base balance or with neurologic, renal or liver disease of unknown cause by investigated for a possible metabolic disorder. 相似文献
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Somatoform pain disorder in the general population 总被引:6,自引:0,他引:6
Grabe HJ Meyer C Hapke U Rumpf HJ Freyberger HJ Dilling H John U 《Psychotherapy and psychosomatics》2003,72(2):88-94
BACKGROUND: Chronic pain disorder is assumed to represent a frequent and disabling condition. However, data on the prevalence of somatoform pain symptoms and somatoform pain disorder in the community are limited to date. METHODS: German versions of the Composite International Diagnostic Interview were administered to a representative national sample of 4,075 people. Somatoform pain disorder was diagnosed by standardized diagnostic algorithm based on the DSM-III-R criteria (absence of adequate physical findings). One subgroup was identified as also meeting the DSM-IV criterion B for 'significant distress or psychosocial impairment due to the somatoform pain'. RESULTS: A lifetime prevalence rate of somatoform pain disorder according to DSM-III-R of 33.7% and a 6-month rate of 17.3% was found. When applying the DSM-IV B criterion, the prevalence rate dropped to 12.3 and 5.4%, respectively. In both groups more than 95% of the probands had contacted their doctor because of the pain. In 25% of the probands the pain was positively assigned to psychological factors. A female:male ratio of 2:1 was found. CONCLUSIONS: Somatoform pain disorder (DSM-III-R) is a frequent condition. However, only about one third of these subjects is severely distressed or impaired by the pain. A clear operationalized concept of the DSM-IV criterion C 'psychological factors are judged to have an important role in the onset, severity, exacerbation or maintenance of the pain' should be provided in the further development of the diagnosis 'pain disorder' in order to make this diagnosis suitable for general population surveys. 相似文献
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S. Weyerer H. Dilling R. Kohl H. Martens 《Social psychiatry and psychiatric epidemiology》1982,17(3):133-141
Summary We have ascertained the social class distribution at different care levels for a semi-rural area of southeastern Bavaria. The analysis is based on a prevalence study of psychiatric patients treated as in-and outpatients (n=3,788), a study of patients in general practices (n = 1,274) and a field study (n= 1,536). The first study is based solely on secondary statistical material (case histories); in the latter two studies, the psychiatric diagnosis was reached with the aid of the Clinical Psychiatric Interview (Goldberg et al. 1970). In classifying the psychiatric diagnoses we used the ICD (8th revision). Social class was recorded in all three samples according to the classification of Moore and Kleining (1960). During the first 6 months of 1971, psychiatric outpatients were clearly overrepresented in the lower social classes, above all in the upper working class. With the exception of the diagnoses of (pre)senile dementia and other organic mental disorders, significant class differences were found. The lower the social class, the higher the rate of inpatient treatment (6 months' treated prevalence). The rate for the lower working class was especially high. The differences in class distribution between in-and outpatients are due primarily to those patients resident on 1 January 1971, mostly chronically ill, who, to a great extent, belong to the lower class. No significant difference exists between the social class distributions of inpatient and outpatient admissions, whether first or readmissions. In contrast to those under psychiatric treatment, and with the exception of the mentally retarded, we found no significant classspecific differences for patients in general practices. The rate of mental illnesses in need of treatment in the lower lower class in the field study was clearly higher than the expected value for the general population. The high rate in Class V is due to the diagnoses of mental retardation, alcoholism and neurotic/psychosomatic illnesses.This study was funded by the German Research Foundation (Deutsche Forschungsgemeinschaft) within the research division Psychiatric Epidemiology (Sonderforschungsbereich 116, Psychiatrische Epidemiologie). Revised version of a paper presented at the 31st Congress of the Deutsche Gesellschaft für Psychologie in Mannheim, FRG, 17–21 September 1978. 相似文献
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We have investigated the effects of mechanical elution of neutrophils from nylon-wool fiber (NWF) using the scanning electron microscope and biochemical analysis of elution fractions. We have determined that mechanical removal of neutrophils from nylon-wool fiber disrupts neutrophils adherent to nylon-wool fiber and augments release of granules, release of peripheral cytoplasmic fragments, and release of lactic dehydrogenase, a soluble cytoplasmic enzyme. Mechanical shearing of the adherent cell, and not adherence per se, causes the fragmentation. The extent of fragmentation is proportional to the NWF surface area available to neutrophils and is maximal at the temperature for optimal adherence and spreading. Agents that decrease cell spreading (n-ethylmaleimide and cold) diminish fragmentation. Cytochalasin B, an agent that destabilizes the neutrophil cortex, increases fragmentation. Fragmentation may be an important contributing cause of the abnormal morphology, function, and in vivo survival of nylon-wool-fiber procured human neutrophils. The prevention of fragmentation would appear to be necessary to insure the procurement of optimally functioning cells. Elution of NWF-adherent neutrophils in the cold might be a practical way to diminish neutrophil damage during clinical filtration leukapheresis. 相似文献
10.
Alloimmunization to platelets in heavily transfused patients with sickle cell disease 总被引:2,自引:0,他引:2
Bone marrow transplantation (BMT) is now an option for some patients with sickle cell disease (SCD). Many SCD patients are multiply transfused with red blood cells (RBCs), and may be immunized to alloantigens other than erythrocyte antigens. Because platelet refractoriness is a significant complication during BMT, we wished to determine the prevalence of alloimmunization to platelets in transfused SCD patients. Sera collected from 47 transfused and 14 untransfused SCD patients were screened for HLA and platelet-specific antibodies. Transfusion and RBC antibody histories were reviewed. A subset of the patients were rescreened 1 year later. Eighty-five percent of patients with at least 50 RBC transfusions (22 of 26), 48% of patients with less than 50 transfusions (10 of 21), and none of 14 untransfused patients demonstrated platelet alloimmunization (P < .05). Platelet alloimmunization was more prevalent than RBC alloimmunization (20% to 30%). Half of the platelet reactivity was chloroquine-elutable. Eighteen of 22 patients (82%) on chronic RBC transfusion remained platelet-alloimmunized 11 to 22 months after initial testing. In summary, 85% of heavily transfused SCD patients are alloimmunized to HLA and/or platelet-specific antigens. These patients may be refractory to platelet transfusion, a condition that would increase their risk during BMT. Leukodepletion in the transfusion support of SCD patients should be considered to prevent platelet alloimmunization. 相似文献