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Lappe-Siefke C Goebbels S Gravel M Nicksch E Lee J Braun PE Griffiths IR Nave KA 《Nature genetics》2003,33(3):366-374
Myelination of axons by oligodendrocytes enables rapid impulse propagation in the central nervous system. But long-term interactions between axons and their myelin sheaths are poorly understood. Here we show that Cnp1, which encodes 2',3'-cyclic nucleotide phosphodiesterase in oligodendrocytes, is essential for axonal survival but not for myelin assembly. In the absence of glial cyclic nucleotide phosphodiesterase, mice developed axonal swellings and neurodegeneration throughout the brain, leading to hydrocephalus and premature death. But, in contrast to previously studied myelin mutants, the ultrastructure, periodicity and physical stability of myelin were not altered in these mice. Genetically, the chief function of glia in supporting axonal integrity can thus be completely uncoupled from its function in maintaining compact myelin. Oligodendrocyte dysfunction, such as that in multiple sclerosis lesions, may suffice to cause secondary axonal loss. 相似文献
23.
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin 总被引:6,自引:0,他引:6
Levy-Nissenbaum E Betz RC Frydman M Simon M Lahat H Bakhan T Goldman B Bygum A Pierick M Hillmer AM Jonca N Toribio J Kruse R Dewald G Cichon S Kubisch C Guerrin M Serre G Nöthen MM Pras E 《Nature genetics》2003,34(2):151-153
We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology. 相似文献
24.
Comparative genomics: Insecticide resistance in mosquito vectors 总被引:8,自引:0,他引:8
Weill M Lutfalla G Mogensen K Chandre F Berthomieu A Berticat C Pasteur N Philips A Fort P Raymond M 《Nature》2003,423(6936):136-137
25.
Mitochondrial class II introns encode proteins related to the reverse transcriptases of retroviruses 总被引:6,自引:0,他引:6
Organelle introns share several distinctive features that set them apart from their counterparts in nuclear-encoded pre-messenger RNAs (reviewed in ref. 1): their termini do not obey the GU...AG rule; the introns are 'structured' (members of the same family or 'class' can theoretically adopt very similar RNA secondary conformations and several of the postulated pairings have been confirmed by studies of splicing mutants and their revertants (see, for example, ref. 4); many introns from both classes contain long open reading frames. We report here that the proteins potentially encoded by four class II introns are related to several RNA-dependent polymerases of viral and transposable element origins. 相似文献
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Probabilistic feature models (PFMs) can be used to explain binary rater judgements about the associations between two types of elements (e.g., objects and attributes) on the basis of binary latent features. In particular, to explain observed object-attribute associations PFMs assume that respondents classify both objects and attributes with respect to a, usually small, number of binary latent features, and that the observed object-attribute association is derived as a specific mapping of these classifications. Standard PFMs assume that the object-attribute association probability is the same according to all respondents, and that all observations are statistically independent. As both assumptions may be unrealistic, a multilevel latent class extension of PFMs is proposed which allows objects and/or attribute parameters to be different across latent rater classes, and which allows to model dependencies between associations with a common object (attribute) by assuming that the link between features and objects (attributes) is fixed across judgements. Formal relationships with existing multilevel latent class models for binary three-way data are described. As an illustration, the models are used to study rater differences in product perception and to investigate individual differences in the situational determinants of anger-related behavior. 相似文献
28.
C. Michel 《Cellular and molecular life sciences : CMLS》1989,45(1):69-77
Summary Prenatal development, characterized by intensive cell proliferation, cell differentiation and cell migration, shows a high radiosensitivity. Therefore, radiation exposure of embryos and fetuses is of great concern for radiological protection and human health. Irradiation during gestation can cause death, growth disorders, malformations, functional impairment and malignant diseases in childhood. These effects are strongly dependent on the developmental stage at exposure and on the radiation dose. The first trimester of pregnancy is regarded as the period with the highest risk for malformation and cancer induction. The developing nervous system shows a special susceptibility to ionizing radiation over a long period and is therefore of great significance for risk estimation. Knowledge about radiation effects on prenatal development has been derived from animal experimentation and from the exposure of human embryos. There is evidence that doses between 1 and 10 cGy may lead to developmental anomalies and that the radiation response can be modified by additional factors. 相似文献
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Summary Mouse embryos were exposed to various doses of cadmium and/or X-rays on day 8 of gestation. The combined treatment exerted an antagonistic effect regarding the teratogenic action of the two agents. 相似文献