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71.
72.
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. 总被引:1,自引:0,他引:1 下载免费PDF全文
S Manouvrier A R?tig G Hannebique J D Gheerbrandt G Royer-Legrain A Munnich M Parent J P Grünfeld C Largilliere A Lombes et al. 《Journal of medical genetics》1995,32(8):654-656
The A 3243 G mutation of the mitochondrial tRNA(Leu) gene was found to segregate with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy, or renal failure in a large pedigree of 35 affected members in four generations. Presenting symptoms almost consistently involved deafness and recurrent attacks of migraine-like headaches, but the clinical course of the disease varied within and across generations. The A 3243 G mutation has been previously reported in association with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome (MELAS) and with diabetes mellitus and deafness. To our knowledge, however, hypertrophic cardiomyopathy is not a common feature in people with the A 3243 G mutation and renal failure has not been hitherto reported in association with this mutation. The present observation gives additional support to the variable clinical expression of mtDNA mutations in humans. 相似文献
73.
The ultrastructure of the liver in normal, mildly ketotic and severely ketotic cows was studied using stereological methods. In the liver of severely ketotic cows there is: (1) a significant increase in the volume fraction of hepatocytes and a decrease in the volume fraction of sinusoids, and (2) an increase in the volume fraction of lipid and smooth endoplasmic reticulum and a decrease in the volume fraction of glycogen and Golgi in parenchyma. A decrease in the profile density of mitochondria per 1 mm2 field and an increase of the volume occupied by mitochondria were not significant nor was the decrease in the volume density of rough endoplasmic reticulum. The degree and duration of negative energy balance obviously affect the morphological changes of the fatty liver. However, additional work is needed to determine the significance of ultrastructural changes in liver function. 相似文献
74.
Katrin Banach Moritz Bünemann Jörg Hüser Lutz Pott 《Pflügers Archiv : European journal of physiology》1993,423(3-4):245-250
L-type Ca2+ current (I
Ca) was measured in cultured atrial myocytes from hearts of adult guinea-pigs using whole-cell voltage clamp. Potentiation of I
Ca induced by -adrenergic stimulation (isoprenaline 2· 10–7 M) could be completely antagonized by diluted sera (1100 v/v). Half-maximal inhibition of -receptorstimulated I
Ca occurred at about 11000. Basal I
Ca was not affected by serum. Atropine in a concentration (10–6M) that completely antagonized the anti-adrenergic effect of acetylcholine (ACh, 2·10–6 M) did not interfere with the effect of serum. In cells dialysed with cyclic adenosine monophosphate (cAMP)-containing (10–4 M) pipette solution, potentiated I
Ca was insensitive to both ACh and serum. Preincubation of the myocytes with pertussis toxin almost completely abolished the anti-adrenergic effects of both ACh and serum. The potency of serum was not reduced by dialysis. It is concluded that serum contains a factor which, like ACh, inhibits -receptor-stimulated adenylyl cyclase via Giprotein.A preliminary report of this work has appeared in abstract form [11] 相似文献
75.
von Grünau M. Frost B. J. 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1983,49(1):84-92
Summary For the experiments reported in this study, recordings were obtained from 246 single units in the middle lateral suprasylvian visual area (LS) of 13 cats. 49 of these cells were subjected to detailed quantitative analysis. The receptive field (RF) organization was examined for directionally specific cells by presenting moving single spots on large moving random dot backgrounds. A cell's response to an optimal spot (in terms of size, direction, velocity) moving on a stationary background inside the excitatory RF (ERF) was compared to in-phase (same direction, same velocity) and anti-phase (opposite direction, same velocity) movement of spot and background. In-phase movement resulted in inhibition of the cell's response (3–100%) in 94% of the cells, while anti-phase movement led to reduced inhibition in 52% of the cells or to facilitation (0.5–327%) in 39% of the cells. By changing the direction of background motion with respect to that of the spot, the directional tuning of the in-phase inhibition and anti-phase facilitation effects was determined.We were able to manipulate the size of the background effects by masking out the background for various proportions of the ERF, and maximizing them by restricting background stimulation to the large inhibitory RF (IRF) surrounding the ERF. These results could be best accounted for by a double-opponent-process mechanism with both RF center and RF surround being directionally selective, but with opposite polarity. It is suggested that this type of mechanism could be involved in the processing of object motion.Partially supported by an NSERC University Research Fellowship (U 0057) and an ARC equipment grant to M. von Grünau and by an NSERC Grant to B. J. Frost (A 0353) 相似文献
76.
Desmurget M Vindras P Gréa H Viviani P Grafton ST 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2000,134(3):363-377
Several perceptual studies have shown that the ability to estimate the location of the arm degrades quickly during visual occlusion. To account for this effect, it has been suggested that proprioception drifts when not continuously calibrated by vision. In the present study, we re-evaluated this hypothesis by isolating the proprioceptive component of position sense (i.e., the subjects were forced to rely exclusively on proprioception to locate their hand, which was not the case in earlier studies). Three experiments were conducted. In experiment 1, subjects were required to estimate the location of their unseen right hand, at rest, using a visual spot controlled by the left hand through a joystick. Results showed that the mean accuracy was identical whether the localization task was performed immediately after the positioning of the hand or after a 10-s delay. In experiments 2 and 3, subjects were required to point, without vision of their limb, to visual targets. These two experiments relied on the demonstration that biases in the perception of the initial hand location induced systematic variations of the movement characteristics (initial direction, final accuracy, end-point variability). For these motor tasks, the subjects did not pay attention to the initial hand location, which removed the possible occurrence of confounding cognitive strategies. Results indicated that movement characteristics were, on average, not affected when a 15-s or 20-s delay was introduced between the positioning of the arm at the starting point and the presentation of the target. When considered together, our results suggest that proprioception does not quickly drift in the absence of visual information. The potential origin of the discrepancy between our results and earlier studies is discussed. 相似文献
77.
Perceived failure is reported to have detrimental effects on subsequent performance in patients with major depressive disorder. We investigated the error-related negativity (ERN)/error negativity (Ne), an electrophysiological correlate of response monitoring, using a 64-channel EEG. Sixteen patients with DSM-IV major depressive disorder and 16 matched controls participated in an Eriksen flanker task with continuous performance feedback that signaled monetary reward. Compared to controls, patients with major depressive disorder showed a less negative ERN/Ne in error trials following error trials. This result might reflect impaired response monitoring processes in major depressive disorder resulting from an underactivity in a central reward pathway and/or a deficit in strategic reasoning. 相似文献
78.
Bissinger AL Brugger J Grigoleit GU Gründemann C Hebart H Einsele H Jahn G 《Viral immunology》2005,18(3):534-538
To monitor the frequencies of virus-specific cytotoxic T lymphocytes (CTLs), FACS analyses were performed detecting lymphocyte-specific surface molecules and tetramer binding, as marker for peptide-specificity. Aim of this investigation was to establish an alternative protocol for the quantification of virus-specific CTLs using tetramer binding and microscopic analyzing. The frequencies of HCMV-pp65-peptide-specific CTLs in the blood of eight different HLA-A*0201-positive, HCMV-IgG antibody-positive donors were analyzed with both methods. Using FACS analyses, a median of 0.8% and, using the microscopic analyses, a median of 3.0% was detected in the CD3+CD8+ cells. After enrichment of HCMV-pp65-peptide-specific CTLs using the interferon-gamma secretion assay followed by expansion in cell culture, a median of 90.6% using FACS analyses and a median of 87.1% using the microscopic analyses was detected. Thus, the staining protocol presented in this investigation is an alternative approach to detect and to quantify virus-specific CTLs in low as well as in high frequencies. 相似文献
79.
U. Grüsser-Cornehls P. Böhm 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1988,72(1):29-36
Summary Horizontal optokinetic nystagmus (OKN) evoked by a random dot pattern moving at a constant speed around the animal was investigated in wild-type mice and Weaver mutants (cerebellar impairment) by means of chronically implanted EOG-electrodes. The shape of OKN in the homozygotic Weaver mouse was clearly different from that in normal mice. The OKN in the mutant showed inconstant velocity during the slow phase. Nystagmus frequency of the mutant was significantly below that of normal controls for velocities of 1.4 to 25 degrees · s-1. In one group of normals the mean slow-phase gain was relatively constant for stimulus angular velocities between 1.4 and 15 degrees · s-1 and declined thereafter. In a second group the mean slow-phase gam decreased gradually between stimulus angular velocities from 1.4 to 15 degrees · s-1 and thereafter with a steeper slope. In mutants gain decreases with increasing stimulus velocity over the entire range tested (1.4 to 42 degrees · s-1). Normals and mutants with one eye occluded exhibited strong OKN when the pattern was moved in a temporonasal direction; little response was obtained by stimuli moving in a naso-temporal direction. 相似文献
80.
Lazar A Gründemann D Berkels R Taubert D Zimmermann T Schömig E 《Journal of human genetics》2003,48(5):226-230
The extraneuronal monoamine transporter EMT (HGNC Nomenclature SLC22A3) is the molecular correlate of the classical uptake2 system responsible for the non-neuronal inactivation of circulating and centrally released catecholamines. Because of its
functional profile and expression pattern, EMT is regarded as a candidate gene for diseases related to the sympathetic nervous
system and neuropsychiatric disorders. We describe the first investigation of the genetic variability of the EMT gene in human.
Six single-nucleotide substitutions and one deletion were detected within the assumed core promoter, the exonic and flanking
intronic sequences and the 3'-untranslated region in 100 Caucasian individuals. No amino acid changes were found and Tajima's
D was positive (D=2.91; P<0.01). However, the synonymous nucleotide substitution 1233G→A might serve as a cryptic splice acceptor site. Analysis of
linkage disequilibrium between polymorphisms yielded 12 possible haplotypes accounting for more than 90% of all haplotypes.
Knowledge of the sequence variation and frequency of the underlying polymorphisms in this member of the amphiphilic solute
facilitator family of transporters provides the basis for subsequent association studies and candidate gene approaches.
Electronic Publication 相似文献