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71.
P de Lonlay-Debeney JC Fournet D Martin F Poggi C Dionisi Vicci M Spada G Touati J Rahier F Brunelle C Junien JJ Robert C Nihoul-Fékété JM Saudubray 《Archives de pédiatrie》1998,5(12):1347-1352
Persistent hyperinsulinemic hypoglycaemia of infancy (PHHI) is the most frequent cause of hypoglycaemia in infancy. Clinical presentation is heterogeneous, with variable onset of hypoglycaemia and response to diazoxide, and presence of sporadic or familial forms. Underlying histopathological lesions can be focal or diffuse. Focal lesions are characterised by focal hyperplasia of pancreatic islet-like cells, whereas diffuse lesions implicate the whole pancreas. The distinction between the two forms is important because surgical treatment and genetic counselling are radically different. Focal lesions correspond to somatic defects which are totally cured by limited pancreatic resection, whereas diffuse lesions require a subtotal pancreatectomy exposing to high risk of diabetes mellitus. Diffuse lesions are due to functional abnormalities involving several genes and different transmission forms. Recessively inherited PHHI have been attributed to homozygote mutations for the beta-cell sulfonylurea receptor (SUR1) or the inward-rectifying potassium-channel (Kir6.2) genes. Dominantly inherited PHHI can implicate the glucokinase gene, particularly when PHHI is associated with diabetes, the glutamate dehydrogenase gene when hyperammonaemia is associated, or another locus. 相似文献
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OBJECTIVE: The ketogenic diet is a high-fat, low-protein, low-carbohydrate diet developed in the 1920s for the treatment of children with difficult to control seizures. Despite advances in both the pharmacotherapy and the surgery of epilepsy, many children continue to have difficult-to-control seizures. This prospective study sought to determine the ketogenic diet's effectiveness and tolerability in children refractory to today's medications. METHODS: One hundred fifty consecutive children, ages 1 to 16 years, virtually all of whom continued to have more than two seizures per week despite adequate therapy with at least two anticonvulsant medications, were prospectively enrolled in this study, treated with the ketogenic diet, and followed for a minimum of 1 year. Seizure frequency was tabulated from patients' daily seizure calendars and seizure reduction calculated as percentage of baseline frequency. Adverse events and reasons for diet discontinuation were recorded. RESULTS: The children (mean age, 5.3 years), averaged 410 seizures per month before the diet, despite an exposure to a mean of 6.2 antiepileptic medications. Three months after diet initiation, 83% of those starting remained on the diet and 34% had >90% decrease in seizures. At 6 months, 71% still remained on the diet and 32% had a >90% decrease in seizures. At 1 year, 55% remained on the diet and 27% had a >90% decrease in seizure frequency. Most of those discontinuing the diet did so because it was either insufficiently effective or too restrictive. Seven percent stopped because of intercurrent illness. CONCLUSIONS: The ketogenic diet should be considered as alternative therapy for children with difficult-to-control seizures. It is more effective than many of the new anticonvulsant medications and is well tolerated by children and families when it is effective. 相似文献
74.
Maleah Grover-McKay Susan A Walsh Elisabeth A Seftor Patricia A Thomas Mary JC Hendrix 《Pathology oncology research : POR》1998,4(2):115-120
Glycolysis is increased in cancer cells compared with normal cells. It has been shown that glucose enters cells via a family
of five functional glucose transporters (GLUT). However, GLUT expression appears to be altered in human breast cancer, which
may serve as a selective advantage and facilitate the metastatic potential of these cells. The relationship of GLUT isoform
expression and breast cancer cell invasiveness has not been adequately addressed. Thus, the purpose of this study was to investigate
whether an association exists between GLUT expression and human breast cancer cell invasiveness. Invasiveness of the human
breast cancer lines MCF-7, MDA-MB-435 and MDA-MB-231 was measured using anin vitro assay and compared with cellular GLUT isoform expression, assessed by Western blot analysis and verified by immunohistochemistry
in a poorly differentiated human ductal breast cancer. Cell surface GLUT-1 expression was associated with the invasive ability
of MCF-7 (2.0 ± 0.02%), MDA-MB-435 (6.4 ±0.4%), and MDA-MB-231 (19.3 ± 2.0%). However, GLUT-2 and GLUT-5 were inversely associated
with invasiveness; GLUT-3 expression was variable; and GLUT-4 was undetected. In a poorly differentiated human ductal breast
cancer,in situ GLUT-1 staining was intense. GLUT-1 expression was associated with the in vitro invasive ability of human breast cancer cells
which was validatedin situ. If this relationship is found to exist in a larger number of human breast cancer tissues, it may be possible to develop
diagnostic and therapeutic strategies based on targeted GLUT isoform expression. 相似文献
75.
76.
Bolontrade MF; Stern MC; Binder RL; Zenklusen JC; Gimenez-Conti IB; Conti CJ 《Carcinogenesis》1998,19(12):2107-2113
In this study we have analyzed the vascular response induced in the two-
stage carcinogenesis model in SENCAR mice. The role of angiogenesis has not
been explored in this model, which is the paradigm of multistage
carcinogenesis and a model for neoplastic lesions derived from exophytic
premalignant lesions (e.g. colon carcinoma, bladder papilloma). We
investigated if angiogenesis is involved in the formation of papillomas and
in the progression from papilloma to carcinoma. To this end we analyzed the
vasculature of normal and hyperplastic skin, focal epidermal hyperplasias
that are precursors of papillomas, papillomas at different stages and
squamous cell carcinomas. We also analyzed the vascularization of
papillomas induced in two strains of mice that differ in their
susceptibility to malignant progression. We show here that angiogenesis is
turned on in the earliest stages of papilloma formation. In late stages,
regardless of state of progression, the predominant response is an increase
in the size of blood vessels. Thus, in the SENCAR mouse model,
representative of exophytic tumors, the angiogenesis switch is a very early
event, probably mechanistically related to the development of the primarily
exophytic lesions. Therefore, the density of blood vessels cannot be used
as a predictor of malignant progression in this model.
相似文献
77.
Prevalence of potentially severe drug-drug interactions in ambulatory patients with dyslipidaemia receiving HMG-CoA reductase inhibitor therapy. 总被引:2,自引:0,他引:2
Alexandra E R?tz Bravo Lydia Tchambaz Anita Kr?henbühl-Melcher Lorenzo Hess Raymond G Schlienger Stephan Kr?henbühl 《Drug safety》2005,28(3):263-275
BACKGROUND: Drug-drug interactions (DDIs) are a well known risk factor for adverse drug reactions. HMG-CoA reductase inhibitors ('statins') are a cornerstone in the treatment of dyslipidaemia and patients with dyslipidaemia are concomitantly treated with a variety of additional drugs. Since DDIs are associated with adverse reactions, we performed a cross-sectional study to assess the prevalence of potentially critical drug-drug and drug-statin interactions in an outpatient adult population with dyslipidaemia. METHODS: Data from patients with dyslipidaemia treated with a statin were collected from 242 practitioners from different parts of Switzerland. The medication list was screened for potentially harmful DDIs with statins or other drugs using an interactive electronic drug interaction program. RESULTS: We included 2742 ambulatory statin-treated patients (mean age +/- SD 65.1 +/- 11.1 years; 61.6% males) with (mean +/- SD) 3.2 +/- 1.6 diagnoses and 4.9 +/- 2.4 drugs prescribed. Of those, 190 patients (6.9%) had a total of 198 potentially harmful drug-statin interactions. Interacting drugs were fibrates or nicotinic acid (9.5% of patients with drug-statin interactions), cytochrome P450 (CYP) 3A4 inhibitors (70.5%), digoxin (22.6%) or ciclosporin (cyclosporine) [1.6%]. The proportion of patients with a potential drug-statin interaction was 12.1% for simvastatin, 10.0% for atorvastatin, 3.8% for fluvastatin and 0.3% for pravastatin. Additionally, the program identified 393 potentially critical non-statin DDIs in 288 patients. CONCLUSIONS: CYP3A4 inhibitors are the most frequent cause of potential drug interactions with statins. As the risk for developing rhabdomyolysis is increased in patients with drug-statin interactions, clinicians should be aware of the most frequently observed drug-statin interactions and how these interactions can be avoided. 相似文献
78.
Pheochromocytoma coexisting with renal artery lesions 总被引:2,自引:0,他引:2
PURPOSE: Physiologically significant renal artery lesions in the presence of a pheochromocytoma comprise a confounding factor which may impact on the hypertension cure following excision of the pheochromocytoma. We present 10 cases of these dual lesions and review the literature on this entity. MATERIALS AND METHODS: From 1952 to 1999, 269 patients were diagnosed with pheochromocytoma at our institution. Hospital charts of these patients were reviewed retrospectively to identify those with coexisting renal artery stenosis. A Medline search was performed to review the available literature. RESULTS: Of the 269 patients with pheochromocytoma 10 (3. 7%) had coexisting renal artery lesions, including renal artery stenosis in 8, renal artery aneurysm in 1 and postangiographic dissection occlusion in 1. Pheochromocytoma was adrenal in 8 cases and ectopic in 2. Of the patients 9 have been treated to date by adrenalectomy in 4, nephroadrenalectomy in 3, adrenalectomy plus lysis of renal artery adhesions in 1 and adrenalectomy plus renal autotransplantation with bench repair in 1. Both lesions were diagnosed preoperatively in 9 cases and a hypovascular adrenal lesion was missed preoperatively in 1. A review of literature revealed a total of 87 cases of coexisting pheochromocytoma and renal artery lesions. CONCLUSIONS: There are multiple mechanisms that can lead to renal artery stenosis and pheochromocytoma. A high index of suspicion is necessary to enable both entities to be diagnosed preoperatively and allow proper planning of surgical therapy. Incomplete diagnosis may lead to persistent hypertension postoperatively. 相似文献
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