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991.
Distinct pathological subtypes of FTLD-FUS 总被引:1,自引:0,他引:1
Mackenzie IR Munoz DG Kusaka H Yokota O Ishihara K Roeber S Kretzschmar HA Cairns NJ Neumann M 《Acta neuropathologica》2011,121(2):207-218
Most cases of frontotemporal lobar degeneration (FTLD) are characterized by abnormal intracellular accumulation of either
tau or TDP-43 protein. However, in ~10% of cases, composed of a heterogenous collection of uncommon disorders, the molecular
basis remains to be uncertain. We recently discovered that the pathological changes in several tau/TDP-43-negative FTLD subtypes
are immunoreactive (ir) for the fused in sarcoma (FUS) protein. In this study, we directly compared the pattern of FUS-ir
pathology in cases of atypical FTLD-U (aFTLD-U, N = 10), neuronal intermediate filament inclusion disease (NIFID, N = 5) and basophilic inclusion body disease (BIBD, N = 8), to determine whether these are discrete entities or represent a pathological continuum. All cases had FUS-ir pathology
in the cerebral neocortex, hippocampus and a similar wide range of subcortical regions. Although there was significant overlap,
each group showed specific differences that distinguished them from the others. Cases of aFTLD-U consistently had less pathology
in subcortical regions. In addition, the neuronal inclusions in aFTLD-U usually had a uniform, round shape, whereas NIFID
and BIBD were characterized by a variety of inclusion morphologies. In all cases of aFTLD-U and NIFID, vermiform neuronal
intranuclear inclusions (NII) were readily identified in the hippocampus and neocortex. In contrast, only two cases of BIBD
had very rare NII in a single subcortical region. These findings support aFTLD-U, NIFID and BIBD as representing closely related,
but distinct entities that share a common molecular pathogenesis. Although cases with overlapping pathology may exist, we
recommend retaining the terms aFTLD-U, NIFID and BIBD for specific FTLD-FUS subtypes. 相似文献
992.
La Russa A Cittadella R Andreoli V Valentino P Trecroci F Caracciolo M Gallo O Gambardella A Quattrone A 《Multiple sclerosis (Houndmills, Basingstoke, England)》2011,17(6):763-766
A 35-year-old young man displayed Leber's optic neuropathy (LHON) due to T14484C and multiple sclerosis (MS) phenotype that was dominated by symptoms and signs of spinal cord impairment. Magnetic resonance imaging (MRI) revealed demyelinating lesions extending from D6 to D11 in the spinal cord with gadolinium enhancement, while only three linear demyelinating lesions were seen on brain MRI. In the literature, a major involvement of the spinal cord was already reported in three of four male patients with the 14484 LHON mutation who developed MS, but the reasons of this peculiar association remain unknown, and further research in this area is needed. 相似文献
993.
Pennisi G Ferri R Cantone M Lanza G Pennisi M Vinciguerra L Malaguarnera G Bella R 《Dementia and geriatric cognitive disorders》2011,31(1):71-80
Vascular dementia (VaD) is a clinical syndrome that encompasses a wide spectrum of cognitive disorders caused by cerebrovascular disease. The subcortical ischemic form of VaD is clinically homogeneous and a major cause of cognitive impairment in the elderly. Vascular lesions contribute to cognitive decline in neurodegenerative dementias, and VaD and Alzheimer's disease often coexist and share clinical features and multiple neurotransmission involvement. These similarities have led several investigators to use transcranial magnetic stimulation (TMS) to enucleate a neurophysiological profile of VaD. TMS studies have identified a pattern of cortical hyperexcitability probably related to the disruption of the integrity of white matter lesions due to cerebrovascular disease. The present review provides a perspective of these TMS techniques by further understanding the role of different neurotransmission pathways and plastic remodeling of neuronal networks in the pathogenesis of VaD. 相似文献
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Bräutigam L Schütte LD Godoy JR Prozorovski T Gellert M Hauptmann G Holmgren A Lillig CH Berndt C 《Proceedings of the National Academy of Sciences of the United States of America》2011,108(51):20532-20537
Cellular functions and survival are dependent on a tightly controlled redox potential. Currently, an increasing amount of data supports the concept of local changes in the redox environment and specific redox signaling events controlling cell function. Specific protein thiol groups are the major targets of redox signaling and regulation. Thioredoxins and glutaredoxins catalyze reversible thiol-disulfide exchange reactions and are primary regulators of the protein thiol redox state. Here, we demonstrate that embryonic brain development depends on the enzymatic activity of glutaredoxin 2. Zebrafish with silenced expression of glutaredoxin 2 lost virtually all types of neurons by apoptotic cell death and the ability to develop an axonal scaffold. As demonstrated in zebrafish and in a human cellular model for neuronal differentiation, glutaredoxin 2 controls axonal outgrowth via thiol redox regulation of collapsin response mediator protein 2, a central component of the semaphorin pathway. This study provides an example of a specific thiol redox regulation essential for vertebrate embryonic development. 相似文献
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Cimolin V Galli M Grugni G Vismara L Precilios H Albertini G Rigoldi C Capodaglio P 《Research in developmental disabilities》2011,32(2):669-673
Patients affected by Down (DS) and Prader-Willi syndrome (PWS) are characterised by some common clinical and functional features including gait disorders and reduced postural control. The aim of our study was to quantitatively compare postural control in adult PWS and DS.We studied 12 PWS and 19 DS adult patients matched for age, height, weight and body mass index.They were instructed to maintain an upright standing position on a force platform for 30 s with open eyes (OE) and we calculated the range of center of pressure (CoP) displacement in the A/P direction (RANGEAP) and in the M/L direction (RANGEML) and the total CoP trajectory length during quiet stance (Sway Path, SP).The range of oscillations in PWS and DS in both AP and ML direction were higher than in controls. PWS and DS were statistically different for RANGEAP, with PWS showing higher mean values.Our results confirm a reduced capacity of both PWS and DS in maintaining postural stability. This appears to be in some respect different in PWS and DS, with PWS showing poorer control in AP. DS and, particularly, PWS should be encouraged to undergo specific balance training and strengthening of the ankle muscles as part of a comprehensive rehabilitation program to enhance daily functioning and quality of life. 相似文献
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