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排序方式: 共有438条查询结果,搜索用时 31 毫秒
1.
Occurrence of the t(2;5)(p23;q35) in non-Hodgkin's lymphoma 总被引:9,自引:3,他引:6
Weisenburger DD; Gordon BG; Vose JM; Bast MA; Chan WC; Greiner TC; Anderson JR; Sanger WG 《Blood》1996,87(9):3860-3868
Primary CD30(Ki-1)-positive anaplastic large-cell lymphoma (ALCL) is considered by some to be a distinct clinicopathologic entity associated with the t(2;5) (p23;q35). However, the specificity of t(2;5) for ALCL has not been carefully studied. Therefore, we performed a detailed analysis of all cases of ALCL with abnormal cytogenetics results in the Nebraska Lymphoma Study Group registry, as well as all other cases of non-Hodgkin's lymphoma with t(2;5) in the registry. We found the t(2;5) in only five of 10 cases of ALCL, four of whom were young patients. However, we also found the t(2;5) in 11 other cases of nonanaplastic lymphoma, including eight children with typical peripheral T-cell lymphomas of various types. The t(2;5) was also found in three older adults with B-cell lymphomas of various types. Thus, the t(2;5) was not specific for CD30+ ALCL. However, t(2;5) may define a clinicopathologic entity in children and young adults characterized by variable morphologies with a T-cell or indeterminate phenotype, CD30-positivity, nodal disease with frequent extranodal involvement, advanced stage, and an excellent response to therapy, including bone marrow transplantation for relapsed disease. The clinical relevance of the t(2;5) in older patients requires further study. 相似文献
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Two fast magnetic resonance (MR) imaging techniques, advanced Fourier and partial-flip imaging, were used at 0.35 T to examine 21 patients with suspected intracranial lesions; the results were quantitatively compared with a conventional spin-echo study. Both of the fast MR techniques yielded a fourfold reduction in imaging time per section. The advanced Fourier sequence showed contrast that was identical to the conventional spin-echo study with signal-to-noise ratios of 58% and 57% for the first and second echoes, respectively. The partial-flip sequence showed a contrast of 109% and 57% for lesions versus substantia alba, and 107% and 78% for substantia grisea versus substantia alba relative to the first and second echoes of the conventional spin-echo study. The partial-flip sequence was particularly sensitive to magnetic susceptibility; this produced artifacts that may undermine the usefulness of partial flip for routine screening in certain parts of the brain. However, this susceptibility significantly improved the detection of intracranial hemorrhage when compared with the spin-echo sequence, particularly when combined with phase mapping of the partial-flip study. 相似文献
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Hart TC; Bowden DW; Bolyard J; Kula K; Hall K; Wright JT 《Human molecular genetics》1997,6(13):2279-2284
Tricho-dento-osseous syndrome (TDO), MIM# 190320, is transmitted as a
highly penetrant autosomal dominant trait that is characterized by variable
clinical expression. The principal clinical features include kinky/curly
hair in infancy, enamel hypoplasia, taurodontism, as well as increased
thickness and density of cranial bones. Possible genetic linkage has been
reported for TDO with the ABO blood group locus, but the gene defect
remains unknown. We have identified four multiplex families (n = 63, 39
affected, 24 unaffected) from North Carolina segregating TDO. We previously
have excluded a major locus for TDO in the ABO region for these families.
Utilizing a genome-wide search strategy, we obtained conclusive evidence
for linkage of the TDO syndrome locus to markers on chromosome 17q21
(D17S791, Z max = 10.54, Theta = 0.00) with no indication of genetic
heterogeneity. Multipoint analysis suggests the TDO locus is located in a 7
cM chromosomal segment flanked by D17S932 and D17S941. This finding
represents the first step towards isolation and cloning of the TDO gene.
Identification of this gene has important implications for understanding
normal and abnormal craniofacial development of hair, teeth and bone.
相似文献
6.
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy 总被引:2,自引:0,他引:2
Pan TC; Zhang RZ; Pericak-Vance MA; Tandan R; Fries T; Stajich JM; Viles K; Vance JM; Chu ML; Speer MC 《Human molecular genetics》1998,7(5):807-812
The Bethlem myopathy is a rare autosomal dominant proximal myopathy
characterized by early childhood onset and joint contractures. Evidence for
linkage and genetic heterogeneity has been established, with the majority
of families linked to 21q22.3 and one large family linked to 2q37,
implicating the three type VI collagen subunit genes, COL6A1 (chromosome
21), COL6A2 (chromosome 21) and COL6A3 (chromosome 2) as candidate genes.
Mutations of the invariant glycine residues in the triple-helical
domain-coding region of COL6A1 and COL6A2 have been reported previously in
the chromosome 21-linked families. We report here the identification of a
G-->A mutation in the N-terminal globular domain-coding region of COL6A3
in a large American pedigree (19 affected, 12 unaffected), leading to the
substitution of glycine by glutamic acid in the N2 motif, which is
homologous to the type A domains of the von Willebrand factor. This
mutation segregated to all affected family members, to no unaffected family
members, and was not identified in 338 unrelated Caucasian control
chromosomes. Thus mutations in either the triple-helical domain or the
globular domain of type VI collagen appear to cause Bethlem myopathy.
相似文献
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9.
Reconstruction of the anterior and posterior cruciate ligaments after knee dislocation. Results using fresh-frozen nonirradiated allografts 总被引:6,自引:0,他引:6
Wascher DC Becker JR Dexter JG Blevins FT 《The American journal of sports medicine》1999,27(2):189-196
We reviewed the results in 13 patients who underwent simultaneous allograft reconstruction of both the anterior and posterior cruciate ligaments after a knee dislocation (nine acute and four chronic injuries). Seven patients sustained related medial collateral ligament injuries and six patients had posterolateral complex injuries. Ligament reconstructions were performed using fresh-frozen Achilles or patellar tendon allografts. At follow-up evaluation (mean of 38 months), only one patient described the reconstructed knee as normal. Six patients had returned to unrestricted sports activities and four had returned to modified sports. The average extension loss was 3 degrees (range, 0 degree to 10 degrees) and average flexion loss was 5 degrees (range, 0 degree to 15 degrees). The KT-1000 arthrometer measurements at 133 N anterior-posterior tibial load showed a mean side-to-side difference of 4.5 mm (range, 0 to 10) at 20 degrees and 5.0 mm (range, 0 to 9) at 70 degrees. The mean Lysholm score was 88 (range, 42 to 100). International Knee Documentation Committee ratings were six nearly normal, five abnormal, and one grossly abnormal. Two patients required manipulations for knee stiffness. This study demonstrates that reconstruction of both cruciate ligaments can restore stability sufficient to allow sports activity in most patients with knee dislocations, but "normal" results are difficult to achieve. 相似文献
10.
Lateral presentation of relevant information facilitates manual responses if the side of relevant information corresponds to the side of the response. Recently, temporally overlapping EEG asymmetries over the central motor cortex and posterior sites were reported as a possible correlate of the sensory-motor integration of spatial information. The present study investigated whether sensory-motor integration of spatial information can occur with symbolic spatial information the same way as with laterally presented stimuli. The task required participants to respond to arrows (target stimuli), which were "flanked" (from above and below) by neutral stimuli or by other arrows (compatible or not). In Experiment 1, this task was compared to the same task with letters as stimuli and to an incompatible task where participants had to respond "against" the arrow direction. The effect of the flankers on response times was largest if subjects had to respond to the arrows in the common way. This was also the only task of Experiment 1 for which marked EEG asymmetries related to the direction of the flankers were observed. In Experiment 2, the onsets of target stimulus and flankers differed in time. Event-related lateralizations of the EEG over sensory and primary motor areas--as a lateralized readiness potential--were always, apparently automatically, evoked by flanking arrows, indicating automatic response activation evoked by symbolic spatial information. In accordance to recent theories of temporally decaying response activation, manual responses were affected only if the target was either shortly preceded by or appeared simultaneously with the flankers. The temporal overlap of EEG asymmetries related to direction encoding, automatic response activation, and to response preparation indicated that a widespread cortical network is activated by a salient directional information that enables subjects to respond quickly if the directional code of the stimulus overlaps with the directional code of the response. 相似文献