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1.
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.
Thoracoscopic esophagomyotomy. Initial experience with a new approach for the treatment of achalasia. 总被引:17,自引:0,他引:17
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C Pellegrini L A Wetter M Patti R Leichter G Mussan T Mori G Bernstein L Way 《Annals of surgery》1992,216(3):291-299
The authors treated 17 patients with achalasia by a thoracoscopic (15 patients) or laparoscopic (2 patients) Heller myotomy. All patients had dysphagia and an upper gastrointestinal series demonstrating a dilated esophagus with a bird-beak deformity at the cardia. Manometry showed a mean lower esophageal sphincter (LES) pressure of 32 +/- 4 mmHg, incomplete sphincter relaxation on swallowing, and no primary esophageal peristalsis. After operation, mean LES pressure was 10 +/- 2 mmHg. Fifteen patients were fed on the second postoperative day. The average hospital stay was 3 days, and there were no deaths or major complications. In three early patients, the myotomy was not carried far enough onto the stomach, and dysphagia persisted until a second myotomy was performed (laparoscopically in two patients). The authors found that having an endoscope in the esophagus during the operation facilitated exposure and was vital to determine the appropriate length of the myotomy. With regard to dysphagia, final results were excellent in 12 patients (70%), good in two patients (12%), fair in two patients (12%), and poor in one patient (6%). Heller myotomy can be safely and reliably performed with minimally invasive techniques. Dysphagia is relieved, postoperative pain is minimal, hospital stay is short, and the patient can return quickly to normal activity. 相似文献
6.
Hans Brunner Thomas C Wetter Birgit Hogl Alexander Yassouridis Claudia Trenkwalder Elisabeth Friess 《Movement disorders》2002,17(5):928-933
We investigated non-rapid eye movement (non-REM) sleep in patients with newly diagnosed Parkinson's disease (PD) who had never previously received dopaminergic medication. There were no significant differences in the conventional sleep parameters between de novo patients with PD and a healthy control group, but the length of stage 1 sleep and the number of awakenings increased significantly upon administration of dopaminergic drugs. Analyzing the quantitative electroencephalogram (EEG), we observed a significant reduction in the low-delta frequency range and a nonsignificant increase in the sigma frequency range in de novo patients with PD. The dopaminergic medication also nonsignificantly reduced the low-delta and sigma frequencies, the latter to the level of the controls. Possible mechanisms that may account for the observed differences are discussed. It is suggested that Parkinson's disease as well as the application of dopaminergic drugs exerts a desynchronizing effect on the sleep EEG that is reflected in a disruption of sleep continuity. 相似文献
7.
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
8.
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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10.
Zusammenfassung Individuelle normale IgG wurden isoelektrisch in eine Vielzahl von Komponenten getrennt, deren IP zwischen pH 5,5 und 9,5 lagen. Im Gegensatz dazu focussierten individuelle Myelom IgG einheitlich. Die isoelektrischen Punkte dieser Paraproteine unterschieden sich untereinander stark, verteilten sich alle zusammen jedoch ebenfalls über den pH-Bereich 5–9. Dieser Befund entspricht der Auffassung, daß diese Paraproteine normale Immunglobuline repräsentieren.Ähnliche Ergebnisse hatte die Fraktionierung der L- und H-Polypeptidketten. Während normale L- und H-Ketten eine ausgeprägte Heterogenität aufwiesen, waren die IgG-L- und H-Ketten von Myelomproteinen einheitlich. Mittels gleichzeitiger Anwendung der PAA-Elektrophorese, quantitativen Aminosäurenanalyse, Endgruppenbestimmung und anderer protein-chemischer Methoden konnte gezeigt werden, daß im Falle der L-Ketten sowohl die Aminosäureverteilung als auch die Konfiguration das unterschiedliche isoelektrische Verhalten bedingt. Die Anwendung der isoelektrischen Analyse für den Nachweis von Rekombinatbildungen aus L- und H-Ketten wurde gezeigt.
Wir danken der Deutschen Forschungsgemeinschaft für ihre Unterstützung. 相似文献
Summary Myeloma IgG and its light and heavy polypeptide chains were subjected to isoelectric focusing in a vertical column containing a combined pH and density gradient. The results have been compared to those obtained by isoelectric separation of normal individual IgG and its polypeptide chains. In carrier ampholytes of two pH steps each individual myeloma globulin was focused in only one fraction, but the isoelectric points of all myeloma globulins were distributed between pH 5 and pH 9. In contrast to these results each normal individual IgG was electrofocused in a multiplicity of isoelectric fractions exhibiting the same pH range from pH 5 to pH 9. Similar results were obtained by the analysis of light and heavy polypeptide chains. A remarkable degree of heterogeneity could be demonstrated in normal and a homogenous isoelectric pattern in myeloma IgG polypepide chains. By polyacrylamide-gel-electrophoresis it could be demonstrated that a direct proportionality of isoelectric point and electrophoretic mobility in polyacrylamide-gel did'nt exist. By the quantitative aminoacid determination, endgroup analysis and other physico-chemical methods it could be shown, that differences in the isoelectric point of L-chains are not exclusively caused by differences in the amino acid composition. The use of isoelectric focusing for the analysis of L- and H-chains recombination has been demonstrated.
Wir danken der Deutschen Forschungsgemeinschaft für ihre Unterstützung. 相似文献