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Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family 总被引:3,自引:0,他引:3
Fagerheim T; Nilssen O; Raeymaekers P; Brox V; Moum T; Elverland HH; Teig E; Omland HH; Fostad GK; Tranebjaerg L 《Human molecular genetics》1996,5(8):1187-1191
Hereditary hearing impairment affects about 1 in 1000 newborns. In most
cases hearing loss is non-syndromic with no other clinical features, while
in other families deafness is associated with specific clinical
abnormalities. Analysis of large families with non-syndromic and syndromic
deafness have been used to identify genes or gene locations that cause
hearing impairment. The present report describes a large Norwegian family
with autosomal dominant non-syndromic, progressive high tone hearing loss
with linkage to 1q21-q23. A maximum LOD score of 7.65 (theta = 0.00) was
obtained with the microsatellite marker D1S196. Analysis of recombinant
individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104
and D1S466. The region contains several attractive candidate genes. This
report supports the idea of extensive genetic heterogeneity in hereditary
hearing impairment and represents the first localization of a deafness gene
in a Norwegian family.
相似文献
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Russell EJ; Geremia GK; Johnson CE; Huckman MS; Ramsey RG; Washburn-Bleck J; Turner DA; Norusis M 《Radiology》1987,165(3):609-617
Sixteen patients with suspected cerebral metastases were studied with magnetic resonance (MR) imaging before and after the intravenous administration of 0.1 mmol/kg of gadolinium diethylenetriaminepenta-acetic acid. The images were interpreted blindly by two neuroradiologists; all clinical, radiologic (computed tomographic and MR imaging), and pathologic data were reviewed to arrive at a final "best diagnosis," which was then compared with the prior blinded interpretations. Of seven patients found to have multiple metastases, six (86%) had at least one tumor nodule depicted by postinfusion MR imaging that was missed by one or both observers on review of preinfusion images alone. Lesions missed on preinfusion studies were usually small nodules hidden by or not detected next to regions of high-signal edema thought to be related to the adjacent tumor nodule. The authors believe that contrast enhancement improves detection of metastatic foci with MR imaging and that the findings indicate broader implications for the detection of multiple lesions from other causes. 相似文献
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Priyanka Sharma Guojun Wu Deeptha Kumaraswamy Natalie Burchat Hong Ye Yongjia Gong Liping Zhao Yan Y. Lam Harini Sampath 《Nutrients》2021,13(2)
7,8-Dihydroxyflavone (DHF) is a naturally occurring flavonoid that has been reported to protect against a variety of pathologies. Chronic administration of DHF prevents high-fat diet (HFD)-induced obesity in female, but not male, mice. However, the mechanisms underlying this sexual dimorphism have not been elucidated. We have discovered that oral DHF supplementation significantly attenuates fat mass, hepatic lipid accumulation, and adipose tissue inflammation in female mice. In contrast, male mice were not protected from adiposity, and had a paradoxical worsening of hepatic lipid accumulation and adipose tissue inflammation upon DHF supplementation. Consistent with these sexually dimorphic effects on body weight and metabolic health, 7,8-DHF induced early and stable remodeling of the female intestinal microbiome. DHF supplementation significantly increased gut microbial diversity, and suppressed potentially detrimental bacteria, particularly Desulfovibrionaceae, which are pro-inflammatory and positively associated with obesity and inflammation. Changes in the female gut microbiome preceded alterations in body weights, and in silico analyses indicated that these early microbial changes were highly predictive of subsequent weight gain in female mice. While some alterations in the intestinal microbiome were also observed in male DHF-supplemented mice, these changes were distinct from those in females and, importantly, were not predictive of subsequent body weight changes in male animals. The temporality of microbial changes preceding alterations in body weight in female mice suggests a role for the gut microbiome in mediating the sexually dimorphic effects of DHF on body weight. Given the significant clinical interest in this flavonoid across a wide range of pathologies, further elucidation of these sexually dimorphic effects will aid the development of effective clinical therapies. 相似文献
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RAJVIR BHALWAR HS SANDHU RC AHUJA GK SINGH RP MISRA 《Medical Journal Armed Forces India》1994,50(3):175-180
A population based hybrid design combining element of cohort and cross-sectional approach was used to develop a simple clinical algorithm to predict individual probability of developing hypertension (systolic BP > 140 mm Hg and/or diastolic BP > 90 mmHg). 3615 soldiers initially normotensive at the time of induction into high altitude, were studied by systematic random sampling. Multiple logistic regression analysis showed a high significant association between hypertension and age, body mass index (BMI), tobacco smoking and alcohol consumption. Using the constant/coefficient values obtained from the logistic model and the receiver operating characteristics (ROC) curve analysis, the following predictive rule was developed – To the age in years, add (BMIx 3.86); also add 5.53 if he is a smoker; and add 19.81 if he consumes alcohol. If the total exceeds 142, the individual is at high risk of developing hypertension. This algorithm carries a sensitivity of 68.2% and specificity of 78.5%.KEY WORDS: Hypertension, High altitude 相似文献
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Kumaraswamy Ambakumar Nandakumar Thalagavadi Venugopal Nanjundappa Viswanathan 《Cancer causes & control : CCC》1998,9(1):117-123
A survival analysis of treated cases of cervix cancer that were registered in the Bangalore (India) Population Based Cancer Registry between 1 January 1987 and 31 December 1989 was performed. Information on vital status of patients was obtained principally through follow-up visits to homes of patients. Follow-up information was available for 860 (92.7 percent) of 928 registered cases. Of the 860 cases, information on treatment was available for 559 patients, on whom the analysis of treatment outcome was performed. The overall five-year observed survival (5YS) was 41.1 percent with a relative survival of 46.3 percent. The 5YS was significantly (P = 0.01) influenced by clinical stage and by addition of brachytherapy (BT) to external radiotherapy (EXT) (5YS = 60.1 percent cf 27.4 percent, P = < 0.001). In 343 patients who received EXT only, comparatively better survival was seen in the group who had received between 4,800 to 5,999 centigray (cGy) (5YS = 36.1 percent) when compared with those who received less than 3,000 and 3,000 to 4,799 cGy (5YS = 16.7 percent and 24.9 percent, respectively). Doses of EXT higher than 5,999 cGy (in patients who were not suitable for BT) did not have any benefit in the 5YS (27.4 percent). The study has generated a specific hypothesis about possible needless excess dose of external radiotherapy. 相似文献
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