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101.
Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy 下载免费PDF全文
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Nita Chahal Nadia A. Clarizia Brian W. McCrindle Katherine M. Boydell Maya Obadia Cedric Manlhiot Rejane Dillenburg Rae S.M. Yeung 《Journal of pediatric health care》2010,24(4):250-257
ObjectiveThe objective of this study was to explore the lived experience of parents of children diagnosed with Kawasaki disease (KD) and to identify factors associated with increased levels of parental anxiety.Study designThree focus groups were conducted including 25 parents of 17 patients with KD, seven (41%) of whom had coronary artery complications. A conceptual model was developed to depict parental experiences and illustrate the key issues related to heightened anxiety.ResultsThemes identified included anxiety related to the child's sudden illness and delay in obtaining a correct diagnosis because of the lack of health care providers’ awareness and knowledge regarding KD. Parents were frustrated by the lack of information available in lay language and the limited scientific knowledge regarding the long-term consequences of the disease. Parents also reported positive transformations and different perspective toward challenges in life. However, the parents of children with coronary artery complications expressed persistent anxiety even years after the acute phase of the illness due to the uncertainty of the long-term prognosis.ConclusionsThere remains a critical need for richly textured research data on the perspective and experience of families of children with KD. 相似文献
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Ian Colman MSc Donna M. Dryden MSc Angus H. Thompson PhD Anthony M. Chahal MASc MD Kim Borden CCHRA Brian H. Rowe MD MSc Donald C. Voaklander PhD 《Academic emergency medicine》2004,11(2):136-142
OBJECTIVES: To compare emergency department (ED) utilization by individuals who present with self-inflicted injuries with utilization by control populations. Individuals with self-inflicted injuries commonly present to the ED, yet little research has been conducted on this population in this setting. METHODS: Individuals who had an ED presentation in 1995-1996 for a self-inflicted injury were tracked prospectively for three to four years of follow-up. This group was matched by age and gender to two groups: individuals who presented with asthma and individuals who presented with other complaints. Data on return visits to the ED were collected from an administrative database. Groups were compared on rates of return visits. RESULTS: There were 478 individuals randomly selected for each group. Individuals in the self-inflicted injury group had higher rates of return visits to the ED over the follow-up period: 232.7 visits per 100 person-years for the self-inflicted injury group, compared with 117.6 for the asthma group, and 83.0 for the "other" group (p < 0.001). The self-inflicted injury group had higher rates for many types of diagnoses: self-inflicted injuries, mental disorders, substance abuse, unintentional injuries, assault, headache pain, and other complaints (all p < 0.001). Patients with more than three repeat visits per year were more common in the self-inflicted injury group (20.1%) than the asthma or "other" groups (9.2% and 5.6%, respectively). CONCLUSIONS: Individuals who harm themselves are chronic users of the ED. The ED represents an opportune setting from which individuals can be directed to appropriate treatment programs. 相似文献
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Korbonits M Chahal HS Kaltsas G Jordan S Urmanova Y Khalimova Z Harris PE Farrell WE Claret FX Grossman AB 《The Journal of clinical endocrinology and metabolism》2002,87(6):2635-2643
The cyclin-dependent kinase inhibitor p27(Kip1) (p27) plays a pivotal role in controlling cell proliferation during development and tumorigenesis. p27 has been implicated in pituitary tumorigenesis in studies of knockout mice and in analyses of human pituitary tumor samples. In this study, we further explored the role of p27 in human pituitary tumors by measuring levels of phosphorylated p27 (P-p27), and also Jun activation domain-binding protein 1 (Jab1), which is thought to facilitate the phosphorylation and degradation of p27, in normal pituitary tissue (n = 21), pituitary adenomas (n = 75), and pituitary carcinomas (n = 10). The amount of p27 protein in corticotroph adenomas and pituitary carcinomas was much lower than that in normal pituitary tissue or other types of pituitary adenoma. Nuclear P-p27 protein levels were significantly decreased in the adenomas, compared with the normals, and were much lower in the carcinomas, compared with either normal pituitary tissue or pituitary adenomas. However, P-p27 levels in corticotroph adenomas were similar to normal pituitary tissue, thus demonstrating a greatly increased ratio of P-p27 to p27 specifically in corticotroph tumors. No difference was found in Jab1 protein levels in either corticotroph tumors or other pituitary adenomas, compared with normal tissue, but there was a small but significant increase in Jab1 levels in carcinomas. Corticotroph and metastatic tumors both showed a significantly higher Ki-67 labeling index than normal pituitary or other types of pituitary adenomas, and in general the Ki-67 labeling index was negatively correlated with p27 nuclear staining. The amount of p27 and Jab1 mRNA was positively correlated in all pituitary samples studied but did not correlate with the changes in immunostaining. Our findings suggest that in corticotroph tumors there is an accentuated phosphorylation of p27 into P-p27, possibly related to increased cyclin E expression, whereas both p27 and P-p27 are subject to increased degradation in pituitary carcinomas. Such variations in phosphorylation may play a role in pituitary tumorigenesis, but modulation of Jab1 is unlikely to be important in the pathogenesis of pituitary adenomas. 相似文献
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Background and Aim: Hepatic dysfunction is a common cause of morbidity and mortality in bone marrow transplant recipients. During the complex clinical management of these patients, liver biopsies may be obtained during evaluation of abnormal liver tests. The purpose of our study was to assess the safety and use of liver biopsy in this patient population. Methods: In total, 1700 bone marrow transplants were performed at our institution from June 1982 to December 2002. Data from patients who underwent liver biopsy after their transplant were reviewed once they were identified through a computerized medical index system. Impact of the histological diagnosis on subsequent patient management was obtained from clinical records. The histological diagnosis made by dedicated hepatopathologists was used as the ‘gold standard’ to assess the reliability of clinical diagnosis. Results: Sixty‐one patients, comprising 39 males and 22 females, had a liver biopsy performed (27 transjugular, 29 percutaneous, four laparoscopic, one not specified). As a result of liver biopsy, management was changed in 37% of patients and included addition of medical therapy in 11 and cessation of therapy in five patients. Complications from the liver biopsy were observed in 15 (25%) patients and involved 10 cases of pain or bleeding at the biopsy site, four subcapsular hemorrhages, and one arrhythmia leading to death. Conclusion: Liver biopsy, although infrequently obtained during the assessment of hepatic dysfunction in the bone marrow transplant population, can serve as an important diagnostic tool with a significant impact on the clinical management of these patients. Although we observed a higher complication rate, the majority of them were minor. 相似文献
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In several respects prolactin is unique among anterior pituitary hormones. The primary regulation of prolactin secretion is
mediated through hypothalamic inhibition, and the diagnosis of hyperprolactinemia can be established without the use of stimulation
or suppression tests. Documenting the presence of hyperprolactinemia is not difficult–the challenge is in identifying the
cause of the hormone hypersecretion. With immunoradiometric assays falsely low levels of prolactin are occasionally seen in
patients with macroadenomas and very high serum prolactin (the hook effect). Macroprolactin should be suspected when a patient
with hyperprolactinemia does not present with typical clinical symptoms, and all hyperprolactinemic sera should be screened
for macroprolactin. With prolactinomas, prolactin levels generally parallel tumor size. Prolactin secreting macroadenomas
are typically associated with levels that exceed 250 μg/l and may exceed 1,000 μg/l. Large non-functioning adenomas also lead
to hyperprolactinemia but levels virtually never exceed 94 μg/l. Acquired and isolated prolactin deficiency is rare. 相似文献
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