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This is a case report of a very rare combination of congenital aganglionosis of the intestine (Hirschsprung’s disease) and congenital central hypoventilation syndrome-CCHS- (Ondine’s curse). The combination is also called Haddad syndrome. In about 50% of the cases of CCHS there is associated Hirschsprung’s disease. There are only about 48 cases reported worldwide. The disease has a very high mortality especially in the settings of a developing country.  相似文献   
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Retractions of the tympanic membrane constitute a large proportion of ear diseases causing concern to the otologist. The clinical features in a case of retraction pocket are varied and cholesteatoma. Also, that a retraction pocket in the posterosuperior region and pars ftaccida is a precursor of cholesteatoma is now well recognized. We have studied 60 cases of retraction pockets during a period of 5 years and have attempted to find out the etiology as well as the most effective treatment in such cases. Though over the years along with a dysfunctional eustachian tube, a sclerotic mastoid has been implicated as one of the causes of Retraction Pockets, we in our study have seen a large sized mastoid antrum (beyond 2 mm vf Lateral Semicircular Canal) as a consistent feature in most of our cases. This was subjectively assessed as a surgical finding in tympanomastoidectomy and objectively assessed by a high Resolution Computed Tomography of the temporal bone. We have found that a canal wall down mastoidectomy was the most effective in preventing the recurrence of retraction pockets. In a coutry like India, canal wall down mastoidectomy offers an acceptable solution to the problem of retraction pocket as not only is the follow up of patients poor but also the “Second- Look” procedure is not always possible. The use of 1- 0 chromic catgut in the middle ear instead of the more conventionally used silastic in preventing recurrent retractions can be considered as an effective single-staged procedure.  相似文献   
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While the Talairach atlas remains the most commonly used system for reporting coordinates in neuroimaging studies, the absence of an actual 3-D image of the original brain used in its construction has severely limited the ability of researchers to automatically map locations from 3-D anatomical MRI images to the atlas. Previous work in this area attempted to circumvent this problem by constructing approximate linear and piecewise-linear mappings between standard brain templates (e.g. the MNI template) and Talairach space. These methods are limited in that they can only account for differences in overall brain size and orientation but cannot correct for the actual shape differences between the MNI template and the Talairach brain. In this paper we describe our work to digitize the Talairach atlas and generate a non-linear mapping between the Talairach atlas and the MNI template that attempts to compensate for the actual differences in shape between the two, resulting in more accurate coordinate transformations. We present examples in this paper and note that the method is available freely online as a Java applet.  相似文献   
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Juvenile nasopharyngeal angiofibrama (JNA) is a benign vascular tumour which is locally aggressive and occasionally extends intracranially. It occurs mainly in adolescent males. We report an interesting case of a targe JNA with intracranial extention encroaching on the cavernous sinus which we treated surgically by the conventional lateral rhinotomy and transpalatal approach.  相似文献   
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Chronic fatigue syndrome (CFS) is characterized by persistent or relapsing fatigue that is not alleviated by rest, causes substantial reduction in activities and is accompanied by a variety of symptoms. Its unknown etiology may reflect that CFS is heterogeneous. Latent class analyses of symptoms and physiological systems were used to delineate subgroups within a population-based sample of fatigued and nonfatigued subjects [1] . This study examined whether genetic differences underlie the individual subgroups of the latent class solution. Polymorphisms in 11 candidate genes related to both hypothalamic-pituitary-adrenal (HPA) axis function and mood-related neurotransmitter systems were evaluated by comparing each of the five ill classes (Class 1, n = 33; Class 3, n = 22; Class 4, n = 22; Class 5, n = 17; Class 6, n = 11) of fatigued subjects with subjects defined as well (Class 2, n = 35). Of the five classes of subjects with unexplained fatigue, three classes were distinguished by gene polymorphsims involved in either HPA axis function or neurotransmitter systems, including proopiomelanocortin (POMC), nuclear receptor subfamily 3, group C, member 1 (NR3C1), monoamine oxidase A (MAOA), monoamine oxidase B (MAOB), and tryptophan hydroxylase 2 (TPH2). These data support the hypothesis that medically unexplained chronic fatigue is heterogeneous and presents preliminary evidence of the genetic mechanisms underlying some of the putative conditions.  相似文献   
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