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61.
Genetic analysis of Tourette syndrome suggesting major gene effect.   总被引:5,自引:4,他引:1       下载免费PDF全文
Data on Gilles de la Tourette syndrome are analyzed by multiple threshold models in inheritance that incorporate sex effect. The polygenic-multifactorial model is rejected. Single major locus inheritance can account for the data, although many of the occurrences of Tourette are due to nongenetic phenocopies. In both models, males and females share a common genetic environmental liability, but the less prevalent sex, that is, females, has a higher genetic loading for the disorder. The predicted population prevalences in the single major locus model are 2.3% for males and 0.8% for females. The implications for genetic and biological research in Tourette syndrome are discussed.  相似文献   
62.
Summary Monoclonal antibodies were raised against purified RNA polymerase II (or B) from Drosophila melanogaster. The antibody produced by one hybridoma cell clone was found to be directed against the two large subunits of the enzyme. The absence of antibodies directed against proteins possibly contaminating the antigens used for immunization allowed us to identify RNA polymerase unequivocally in interbands and puffs of polytene chromosomes. Within a single heat shock puff (87C1) RNA polymerase was found to be clustered in two separate areas suggesting two distint regions of RNA polymerase activity in this puff.Abbreviations FITC fluorescein isothiocyanate - PAGE polyacrylamide gel electrophoresis - PBS phosphate buffered saline - SDS sodium dodecyl sulfate - Enzyme DNA-dependent RNA polymerase or nucleotide-triphosphate - RNA nucleotidyltransferase (EC 2.7.7.6)  相似文献   
63.
In a comparative study the requirement of several strains of autotrophic hydrogen-oxidizing bacteria for nickel was examined. Autotrophic growth was studied both in liquid media, previously freed from trace metals; and on solidified media, using a plate diffusion assay. The latter assay was based on the observation that EDTA causes complete inhibition of autotrophic growth on agar medium as a result of nickel deficiency. Nickel was shown to be required as a trace element in five strains of Alcaligenes eutrophus, in two strains of Xanthobacter autotrophicus, in Pseudomonas flava, in Arthrobacter spec. 11X and in strain 12X. In these bacteria nickel was not replaceable by cobalt, copper, manganese or zinc ions. No significant nickel requirement was detected by these methods, however, for Paracoccus denitrificans and Nocardia opaca 1b.  相似文献   
64.
Summary The question is examined whether -melanocyte stimulating hormone (-MSH), adrenocorticotropic hormone (ACTH), met-enkephalin and -endorphin are detectable by enzyme immunocytochemistry in the cells of the intermediate lobe (PI) of the rat pituitary. By applying antibodies against MSH, ACTH and -endorphin on light microscopic sections, intense immunostaining was found in all PI-cells. At the ultrastructural level, after treatment of consecutive serial sections with these three antibodies the immunoreactivity was localized in the same secretory granules. No specific metenkephalin immunoreactivity could be detected in the cells of the intermediate lobe.Supported by Deutsche Forschungsgemeinschaft SFB 87/B2  相似文献   
65.
Zusammenfassung Innerhalb des Wirtsxylems wurden Haustorialzellen des WurzelparasitenOrobanche lichtund elektronenoptisch untersucht. Diese Zellen durchlaufen eine ungewöhnliche Differenzierung bis sie wasserleitendes Xylemanschlu\element sind. Von Haustorialzellen mit stark verdickten FrontwÄnden entwickeln sie sich bei Eintritt in das Wirtsxylem zu einer typischen Transferzelle mit polar zum Holzelement des Wirts angelegtem Wandlabyrinth. Erst durch einen zweiten Differenzierungsschritt wird die Transferzelle zum Wasserleitelement, indem die typischen SekundÄrwandverdickungen des Xylems in der Zelle angelegt werden. Diese entstehen teilweise innerhalb des Wandlabyrinths und sind stets gegenüber denjenigen des Wirtselements angelegt. Zuletzt wird das Labyrinth — bis auf gelegentliche Reststrukturen — abgebaut, der Protoplast degeneriert, und es entsteht ein haustoriales Wasserleitelement, das über kommunizierende Tüpfel an das Wirtselement angeschlossen ist.
Structural features of parasitism ofOrobanche III. The differentiation of xylem connexion ofO. crenata
Summary Haustorial cells of the root parasiteOrobanche within the xylem of the host tissue were investigated by light- and electronmicroscopy. Coming into contact with the tracheary elements of the host these cells show an unusual differentiation before turning into a water conducting xylem element. From haustorial cells with thickened front walls they develop into typical transfer cells, bearing wall ingrowth in those parts of the wall orientated towards the tracheary elements of the host. During further differentiation the transfer cell changes into a water conducting element by developing the typical secondary wall thickenings of xylem elements within the cell. Partly these wall thickenings are formed inside the labyrinth structures of the transfer cell, always situated opposite those of the tracheary element of the host. Simultaneously the labyrinth disintegrates—some small remnants of wall ingrowths may persist. The protoplast degenerates, and finally a haustorial water conducting element results. Host- und parasitic tracheary elements are connected by pits.


Wir danken FrauChristl Glockmann für ihre stets verantwortungsvolle Mitarbeit. Den GÄrtnern des Botanischen Gartens in Kiel sei Dank für die oft schwierige Anzucht des Pflanzenmaterials. Die Untersuchungen wurden durch Mittel der Deutschen Forschungsgemeinschaft gefördert.  相似文献   
66.
Zusammenfassung Als Modell für die Übertragung örtlich-zeitlich variabler Helligkeitsmuster durch das visuelle System des Menschen wird ein dreidimensionales, homogenes neuronales Geflecht betrachtet. Die Ausbreitung der neuronalen Erregung erfolgt anisotrop in afferenter und lateraler Richtung und wird durch eine modifizierte Wärmeleitungsgleichung beschrieben, deren Hauptmerkmal ein regenrativer Signalanteil ist. Die zeitabhängige Lösung beschreibt u.a. die zeitliche Übertragungscharakteristik für flimmernde Gitter im gesamten Frequenzbereich. Die stationäre Lösung beschreibt die örtliche Übertragungscharakteristik für Gitter, wobei auch die Struktur rezeptiver Felder mit inhibitorischem Umfeld deutlich erkennbar ist. Die Struktur der Lösung läßt verstehen, wie sich mit zunehmender Tiefe im neuronalen Geflecht der Übergang von der Ortsselektivität zur Ortsfrequenzselektivität vollzieht.
A model for the spatial-temporal signal transmission properties of the human visual system based on the linear system theory of continuous media
In this paper, a three dimensional homogeneous neural web serves as a model for the transmission of spatial-temporal luminous pattern by the human visual system. The propagation of neuronal excitation in afferent and lateral direction is assumed to be anisotropic. It is described by a modified heat conduction equation a main feature of which is a regenerative signal component. The time-dependent solution describes f.e. the temporal transmission characteristics for flickering grids in the whole frequency range. The stationary solution contains the spatial transmission characteristics for grids as well as the structure of receptive fields with inhibitory surrounds. The structure of the solution makes it under-standable how the transition from spatial selectivity to spatial-frequency-selectivity develops with growing depth of the neuronal web.
  相似文献   
67.
Summary This report describes the results from cultured lymphocytes studied at metaphase, anaphase, and interphase from an individual with a ring chromosome 4. A ring was present in 90.1% of metaphases. Special attention was directed towards the occurrence of derivative chromosomal structures, such as partially duplicated and triplicated rings, tricentric rings, chains of 3 interlocked rings, rod-shaped chromosomes, pulverized rings, and others.The clinical features of the individual (small stature and impaired mental development, hypoplastic thumbs, ptosis palpebrae hypoplastic external male genitalia, abnormal dermatoglyphic pattern) did not conform to a specific phenotype.
Zusammenfassung Die Lymphocyten eines Patienten mit Ringchromosom 4 wurden in der Meta-, Ana-und Interphase beobachtet. 90,1% der Metaphasen wiesen einen Ring auf. Besondere Aufmerksamkeit wurde abnormen, aus dem Ring entstandenen Chromosomen zugewandt. Es fanden sich u. a.: partielle Doppel-und Dreifachringe, Ringe mit 3 Zentromeren, Ringe aus 3 miteinander verketteten Ringen, stabförmige Chromosomen und pulverisierte Ringe.Die Symptome des Patienten (Minderwuchs, Schwachsinn, Hypoplasie der Daumen, Ptosis palpebrae, Hypoplasie des äußeren genitale, abnorme Dermatoglyphen) waren zum größten Teil unspezifish.


This work was supported in part by grants from the Deutsche Forschungsgemeinschaft and is part of a thesis by R.N. for a medical doctorate.  相似文献   
68.
69.
The common hamster (Cricetus cricetus L.), a rodent of the Eurasian steppes and agricultural areas, is threatened by habitat loss. Remnant populations in Western and Central Europe are small, isolated and genetically impoverished. The populations of Belgium, The Netherlands and North Rhine-Westphalia, Germany (BNN), for which Nehring proposed the epiphet canescens, are most affected by this decline. They are distinguished from more eastern populations by large, white areas on throat, chest and forelegs. These traits are sometimes also found in other populations, which casts doubt on their value as diagnostic characteristics. Here, we show that the frequency of occurrence of relatively large chest spots, chin streaks and cuffs on the forelegs is highest in BNN, where a white chest spot occurs in 67–100 % of the sampled individuals, compared to 0–8 % in Central and Eastern European populations. Additionally, hamsters from the Upper Rhine area also display relatively high frequencies of these characters (7–44 %). This suggests a common origin of BNN and Upper Rhine hamsters and an ancient expansion route along the Rhine Valley. A supplementary genetic study of two mitochondrial genes revealed extremely low diversity in both BNN and Upper Rhine hamsters but also clear differentiation and isolation between the two remaining relict populations of North Rhine-Westphalia.  相似文献   
70.
For the improved understanding of biological systems on the nanoscale, it is necessary to enhance the resolution of light microscopy in the visible wavelength range beyond the limits of conventional epifluorescence microscopy (optical resolution of about 200 nm laterally, 600 nm axially). Recently, various far-field methods have been developed allowing a substantial increase of resolution ("superresolution microscopy", or "lightoptical nanoscopy"). This opens an avenue to 'nano-image' intact and even living cells, as well as other biostructures like viruses, down to the molecular detail. Thus, it is possible to combine light optical spatial nanoscale information with ultrastructure analyses and the molecular interaction information provided by molecular cell biology. In this review, we describe the principles of spectrally assigned localization microscopy (SALM) of biological nanostructures, focusing on a special SALM approach, spectral precision distance/position determination microscopy (SPDM) with physically modified fluorochromes (SPDM(Phymod) . Generally, this SPDM method is based on high-precision localization of fluorescent molecules, which can be discriminated using reversibly bleached states of the fluorophores for their optical isolation. A variety of application examples is presented, ranging from superresolution microscopy of membrane and cytoplasmic protein distribution to dual-color SPDM of nuclear proteins. At present, we can achieve an optical resolution of cellular structures down to the 20-nm range, with best values around 5 nm (~1/100 of the exciting wavelength).  相似文献   
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