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181.
M Vainzof E E Zubrzycka-Gaarn D Rapaport M R Passos-Bueno R C Pavanello I Pavanello-Filho M Zatz 《Journal of the neurological sciences》1991,101(2):141-147
Dystrophin immunohistochemical studies in muscle from Duchenne patients (DMD) have shown a population of fibers with partial labelling. In order to determine whether this is related to a cross reaction or to the presence of dystrophin. 22 DMD patients were studied immunohistochemically, through the concomitant use of antibodies from the N-terminal and the C-terminal regions of the protein. In 2, the reaction was negative while in 2 others 17 and 25% of fibers were positive with both antibodies. In the remainder, a population of partially stained fibers was seen: 11 were positive with both antibodies and in 7 only with the N-terminal one. Apparently, there is no correlation between the proportion of positive fibers and clinical progression, or the presence and pattern of DNA deletions in the central part of the gene. These observations led us to suggest that some truncated protein, intermediate synthesis or degradation products of dystrophin are present in muscle from Duchenne patients. 相似文献
182.
183.
Mastrangelo G Marcer G Cegolon L Buja A Fadda E Scoizzato L Pavanello S 《Medical hypotheses》2008,71(4):551-563
The basis of World Health Organization strategy for leprosy elimination is that the only source and reservoir for infection are patients with the disease. It was assumed that multi drug therapy (MDT) would reduce transmission of Mycobacterium leprae, but there is no convincing evidence for this. Furthermore, even if MDT has been proved to be extremely effective against the infectious disease, a noticeable proportion of leprosy patients can suffer from immunologic hypersensitivity reactions which are now the most significant issue in the managements of the disease. In endemic areas it was found that: M. leprae survives outside human body; healthy individuals harbor M. leprae bacilli in nasal cavity and shed micro-organisms in environment; there is widespread subclinical transmission of M. leprae with transient infection of the nose resulting in the development of a mucosal immune response. This disparate clinical, epidemiologic, and microbiologic evidence leads to the first hypothesis: that antigenic load in local tissues, sufficient to trigger the immune response, comes from external supply of M. leprae organisms. The hypothiocyanite anion (OSCN(-)) is generated in vivo by the reaction of thiocyanate with hydrogen peroxide catalyzed by lactoperoxidase. OSCN(-) is an antimicrobial oxidizing agent that prevents growth of bacteria, fungi, and viruses. OSNC(-) exists in lower airway secretions and lung has never been reported to be affected by leprosy. There is a sufficient concentration of OSCN(-) in the saliva, and accordingly mouth is rarely affected by leprosy. By contrast, the concentration of this compound is low or nil in nasal and lacrimal secretions and leprosy very often affects nose and eyes. The second hypothesis is that OSCN(-) may also protect from leprosy. Recently a method of OSCN(-) production, not involving enzymatic steps or use of toxic heavy-metal salts, has been patented. Studies on the susceptibility of M. leprae to hypothiocyanite could be carried out and, in case of positive results, the substance might be used in order to sterilize the nasal cavity of healthy carriers and prevent transmission of M. leprae to healthy subjects and to leprosy patients in whom it may trigger an immune response. 相似文献
184.
Tonini MM Passos-Bueno MR Cerqueira A Pavanello R Vainzof M Dubowitz V Zatz M 《Neuromuscular disorders : NMD》2002,12(6):554-557
We report on two unrelated Brazilian families with members affected by two different forms of muscular dystrophy. In the first one, the 35-year-old male proband has limb-girdle muscular dystrophy with proximal weakness, elevated creatine kinase and a myopathic muscle biopsy. All the proteins known to be associated with limb-girdle muscular dystrophy were normal. Two of his sisters also complained of muscle weakness. The oldest sister showed clinical signs consistent with facioscapulohumeral muscular dystrophy, confirmed through molecular analysis. She presented a 30 kb EcoRI/BlnI fragment which was found in another six relatives, but surprisingly not in the affected proband or the other sister. In the second family, a 57-year-old male with a typical facioscapulohumeral muscular dystrophy phenotype has a 17 kb EcoRI/BlnI fragment, which was also present in other affected relatives. However in a 14-year-old severely affected male cousin, confined to a wheelchair since age 12, but without facial weakness, the small fragment was absent. These families illustrate the importance of testing all affected individuals in a family. 相似文献
185.
186.
We report on three patients with large lipomas in the wall of the cecum, causing intussusception. Endoscopy is the preferred
modality for small lipomas, whereas CT and MR imaging are more useful in their ability in detecting fatty masses and assessing
the location of lesions. Barium enema study may contribute to the preoperative planning in selected cases.
Received: 1 November 1994/Accepted after revision: 5 January 1995 相似文献