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21.
Symptomatic peripheral arterial disease: the value of a validated questionnaire and a clinical decision rule
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Bianca LW Bendermacher Joep AW Teijink Edith M Willigendael Marie-Louise Bartelink Harry R Büller Ron JG Peters Jelis Boiten Machteld Langenberg Martin H Prins 《The British journal of general practice》2006,56(533):932-937
BACKGROUND: If a validated questionnaire, when applied to patients reporting with symptoms of intermittent claudication, could adequately discriminate between those with and without peripheral arterial disease, GPs could avoid the diagnostic measurement of the ankle brachial index. AIM: To investigate the Edinburgh Claudication Questionnaire (ECQ) in general practice and to develop a clinical decision rule based on risk factors to enable GPs to easily assess the likelihood of peripheral arterial disease. DESIGN OF STUDY: An observational study. SETTING: General practice in The Netherlands. METHOD: This observational study included patients of > or =55 years visiting their GP for symptoms suggestive of intermittent claudication or with one risk factor. The ECQ and the ankle brachial index were performed. The prevalence of peripheral arterial disease, defined as an ankle brachial index <0.9, was related to risk factors using logistic regression analyses, on which a clinical decision rule was developed and related to the presence of peripheral arterial disease. RESULTS: Of the 4790 included patients visiting their GP with symptoms suggestive of intermittent claudication, 4527 were eligible for analyses. The prevalence of peripheral arterial disease in this group was 48.3%. The sensitivity of the ECQ was only 56.2%. The prevalence of peripheral arterial disease in a clinical decision rule that included age, male sex, smoking, hypertension, hypercholesterolemia, and a positive ECQ, increased from 14% in the lowest to 76% in the highest category. CONCLUSION: This study indicates that the ECQ alone has an inadequate diagnostic value in detecting patients with peripheral arterial disease. The ankle brachial index should be performed to diagnose peripheral arterial disease in patients with complaints suggestive of intermittent claudication, although our clinical decision rule could help to differentiate between extremely high and lower prevalence of peripheral arterial disease. 相似文献
22.
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations 总被引:9,自引:1,他引:9
Meyer J; Sudbeck P; Held M; Wagner T; Schmitz ML; Bricarelli FD; Eggermont E; Friedrich U; Haas OA; Kobelt A; Leroy JG; Van Maldergem L; Michel E; Mitulla B; Pfeiffer RA; Schinzel A; Schmidt H; Scherer G 《Human molecular genetics》1997,6(1):91-98
It has previously been shown that, in the heterozygous state, mutations in
the SOX9 gene cause campomelic dysplasia (CD) and the often associated
autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one
recurrent mutation were characterized in one SOX9 allele each, and in one
case, no mutation was found. Four missense mutations are all located within
the high mobility group (HMG) domain. They either reduce or abolish the
DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense
and three frameshift mutations identified, two leave the C-terminal
transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or
almost completely intact. When tested in cell transfection experiments, the
recurrent nonsense mutation Y440X, found in two patients who survived for
four and more than 9 years, respectively, exhibits some residual
transactivation ability. In contrast, a frameshift mutation extending the
protein by 70 residues at codon 507, found in a patient who died shortly
after birth, showed no transactivation. This is apparently due to
instability of the mutant SOX9 protein as demonstrated by Western blotting.
Amino acid substitutions and nonsense mutations are found in patients with
and without XY sex reversal, indicating that sex reversal in CD is subject
to variable penetrance. Finally, none of 18 female patients with XY gonadal
dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP
assays, providing evidence that SOX9 mutations do not usually result in XY
sex reversal without skeletal malformations.
相似文献
23.
Extrapelvic colon--areas of failure in a reoperation series: implications for adjuvant therapy 总被引:5,自引:0,他引:5
L L Gunderson H Sosin S Levitt 《International journal of radiation oncology, biology, physics》1985,11(4):731-741
A total of 230 patients had planned single or multiple reoperative procedures following "curative" resection of colorectal cancer at the University of Minnesota. The site of the primary lesion was extrapelvic in 91, and later evidence of cancer was found in 58 patients (64%) at re-operation and/or other follow-up. Eight of the 58 (14%) were converted to disease-free status. Incidence and patterns of failure were correlated with initial operative-pathologic extent of disease (87 of the 91 at risk had initial tumor extension beyond the bowel wall, involved nodes or both) and comparisons were made with the previously analyzed rectal reoperation patients. While a component of local-regional failure was more common with rectal lesions (48/74 at risk, 65%), it was not uncommon with extrapelvic primaries (44/91-48%). The incidence of hematogenous metastasis (DM) was equal, but the pattern of initial DM differed (extrapelvic colon--primarily liver; rectum--liver and lung). Peritoneal seeding was a more common component of failure with the extrapelvic primaries (19/91--21% vs 3/74-4%). Since surgery alone is inadequate treatment for many patients with colon as well as rectal cancer, the rationale of adjuvant radiation and systemic therapy, alone or in combination, is discussed. 相似文献
24.
25.
Primary myocutaneous flap closure following resection of locally advanced pelvic malignancies 总被引:5,自引:0,他引:5
Radice E Nelson H Mercill S Farouk R Petty P Gunderson L 《The British journal of surgery》1999,86(3):349-354
BACKGROUND: Perineal wounds, created at the time of extended resection for locally advanced malignancy and following chemoradiation, are at risk of serious complications. METHODS: To determine whether immediate myocutaneous flap closure prevents complications, 57 patients treated with multimodality therapy and proctectomy (35 perineal wounds) or sacrectomy (22 posterior wounds) were studied. Patients were categorized according to whether they underwent primary skin and pelvic closure (group 1; ,n = 20); primary skin and omental pelvic closure (group 2; n = 24); or immediate myocutaneous flap closure (group 3; n = 13). RESULTS: Groups were similar with respect to age and sex; however, group 1 had more primary tumours and required less radical surgery and chemoirradiation than groups 2 and 3. Groups 1 and 2 experienced more complications overall (eight of 20, nine of 24 and three of 13 patients in groups 1, 2 and 3 respectively), more acute wound complications (seven of 20, nine of 24 and two of 13), delayed wound healing (three of 20, six of 24 and one of 13) and more reoperations for perineal wound problems (five of 20, seven of 24 and zero of 13). Patients in group 2 had a significantly longer hospital stay than those in group 1. Flap closure (group 3) did not increase the length of stay. The routine use of primary flap closure reduced overall wound complications (eight of 31 versus ten of 26 patients) and length of hospitalization (13 versus 17 days). CONCLUSION: Complete wound healing was achieved in all patients; however, immediate myocutaneous flap closure reduced the need for readmission and reoperation. 相似文献
26.
Co-occurrence of mood and personality disorders: a report from the Collaborative Longitudinal Personality Disorders Study (CLPS) 总被引:1,自引:0,他引:1
Skodol AE Stout RL McGlashan TH Grilo CM Gunderson JG Shea MT Morey LC Zanarini MC Dyck IR Oldham JM 《Depression and anxiety》1999,10(4):175-182
The purpose of this study was to examine the relationship of subtypes and particular clinical features of mood disorders to co-occurrence with specific personality disorders. Five hundred and seventy-one subjects recruited for the Collaborative Longitudinal Personality Disorders Study (CLPS) were assessed with the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I) and the Diagnostic Interview for DSM-IV Personality Disorders (DIPD-IV). Percent co-occurrence rates for current and lifetime mood disorders with personality disorders were calculated. Logistic regression analyses examined the effects of clinical characteristics of depressive disorders (e.g., age at onset, recurrence, symptom severity, double depression, and atypical features) on personality disorder co-occurrence. In comparison with other DSM-IV personality disorders, avoidant, borderline, and dependent personality disorders (PDs) were most specifically associated with mood disorders, particularly depressive disorders. Severity and recurrence of major depressive disorder and comorbid dysthymic disorder predicted co-occurrence with borderline and to a lesser extent research criteria depressive personality disorders. The results are consistent with the view that a mood disorder with an insidious onset and recurrence, chronicity, and progression in severity leads to a personality disorder diagnosis in young adults. 相似文献
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Gonzales AJ; Christensen JG; Preston RJ; Goldsworthy TL; Tlsty TD; Fox TR 《Carcinogenesis》1998,19(7):1173-1183