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排序方式: 共有716条查询结果,搜索用时 15 毫秒
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2.
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
5.
Prognostic significance of declining ankle-brachial index values in patients with suspected or known peripheral arterial disease. 总被引:2,自引:1,他引:1
H H H Feringa S E Karagiannis O Schouten R Vidakovic V H van Waning E Boersma G Welten J J Bax D Poldermans 《European journal of vascular and endovascular surgery》2007,34(2):206-213
BACKGROUND: Peripheral arterial disease (PAD) is a risk factor for cardiovascular events. This study assessed the prognostic significance of repeated ankle-brachial index (ABI) measurements at rest and after exercise in patients with PAD receiving conservative treatment. METHODS: In a cohort study of 606 patients (mean age 62+/-12 years, 68% male), ABI at rest and after exercise was measured at baseline and after 1 year. Patients with reductions in ABI were divided into three equally-sized groups (minor, intermediate and major reductions) and were compared to patients without reductions. During a mean follow-up of 5+/-3 years, all-cause mortality, cardiac events, stroke and progression to kidney failure were noted. RESULTS: Death was recorded in 83 patients (14%) of which 49% were due to cardiac causes. Non-fatal myocardial infarction occurred in 38 patients (6%), stroke in 46 (8%) and progression to kidney failure in 35 (6%). By multivariate analysis, patients with major declines in resting (>20%) and post-exercise (>30%) ABI were at increased risk of all-cause mortality (HR: 3.3, 95% CI: 1.5-7.2, HR: 3.0, 95% CI: 1.4-6.4, respectively), cardiac events (HR: 3.1, 95% CI: 1.3-7.2, HR: 2.4, 95% CI: 1.1-5.6, respectively), stroke (HR: 4.2, 95% CI: 1.6-10.4, HR: 3.9, 95% CI: 1.4-10.2, respectively) and kidney failure (HR: 2.7, 95% CI: 1.1-7.5, HR: 6.9, 95% CI: 1.5-31.5, respectively), compared to patients with no declines in ABI. CONCLUSIONS: This study shows that major 1-year declines in resting and post-exercise ABI are associated with all-cause mortality, cardiac events, stroke and kidney failure in patients with PAD. 相似文献
6.
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
7.
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
8.
9.
Athanasios Zahariou Maria Karamouti George Karagiannis Polyanthi Papaioannou 《Journal of neurology》1995,242(Z2):S61-S62
Poster Session 1
Child neurology 相似文献10.