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991.
Yukihiko Mashima Kazuteru Kigasawa Hiroshi Hasegawa Masato Tani Yoshihisa Oguchi 《Clinical genetics》1996,50(6):535-537
Cardiac conduction abnormalities have been reported in families with Leber's hereditary optic neuropathy (LHON). The pre-excitation syndrome, Wolff-Parkinson-White syndrome or Lown-Ganong-Levine syndrome, is reportedly common in Finns with LHON, being seen in 14 (9%) of the 163 individuals with mitochondrial DNA (mtDNA) mutations. While this syndrome is thought to be rare in other ethnic groups with LHON, the present study of 35 Japanese LHON families confirmed that it is also relatively common among Japanese families, being seen in 5 (8%) of the 63 individuals with mtDNA mutations. It remains to be determined whether the high incidence of the pre-excitation syndrome in Finnish and Japanese LHON families is due to a particular genetic composition of ethnic groups such as in Finland and in Japan, or only to a reporting bias. 相似文献
992.
J. A. R. Smith J. Watkins W. Lorenz 《Journal of molecular medicine (Berlin, Germany)》1985,63(19):1005-1008
Summary The past decades have seen considerable shifts of emphasis in surgical care. The recognition that pus was not laudable, was followed by a realisation that not all complications were inevitable and that prophylaxis could effectively reduce the incidence of most common problems in the post-operative period. As anaesthesia has become safer, it has been possible to embark on more intricate and prolonged procedures and for sufficient time to be available to ensure adequate intraoperative care.These two phenomena have firstly increased the complexity of management in the post-operative period, and have brought this aspect of surgical care more obviously to the limelight. However, many separate disciplines are involved in the care of the patient post-operatively, and the Symposium was organised1 to bring the different groups together to identify the areas of recent development in the different specialities and to integrate the overall care of the individual patient.Abbreviations ARDS
adult respiratory distress syndrome
- DIC
disseminated intravascular clotting 相似文献
993.
A randomized controlled trial of goserelin and medroxyprogesterone acetate in the treatment of pelvic congestion 总被引:3,自引:0,他引:3
Following identification of the proportion of pelvic congestion among symptomatic patients complaining of chronic pelvic pain, and in a totally asymptomatic group of patients requesting tubal ligation, the efficiency of goserelin acetate versus medroxyprogesterone acetate was compared objectively using pelvic venogram scores, and subjectively by symptom resolution, improvement of psychological status and sexual functioning in a prospective randomized trial in 47 patients with pure pelvic congestion syndrome. Patients received either goserelin acetate (3.6 mg/month for 6 months) or medroxyprogesterone acetate (MPA; 30 mg/day for 6 months). Among patients with chronic pelvic pain, those with pure pelvic congestion were mostly parous, had the most severe pelvic signs and symptom scores, lowest rates of sexual functioning, and higher states of anxiety and depression as compared with others. At 1 year after treatment, goserelin remained superior to MPA in terms of pelvic venographic improvement as an objective measure. In alleviation of signs and symptomatology, improvement of sexual functioning and reduction of anxiety and depressive states as subjective measures, goserelin acetate achieved a statistically significant advantage (P = 0.0001) compared with MPA. 相似文献
994.
Anim-Nyame N Domoney C Panay N Jones J Alaghband-Zadeh J Studd JW 《Human reproduction (Oxford, England)》2000,15(11):2329-2332
Leptin is a metabolic regulator of the hypothalamic- pituitary-gonadal axis, and plays an important role in human reproduction. Its neuro-endocrine effects are mediated by interactions with receptors in the hypothalamus, where emotional drive is also controlled. We postulated that circulating leptin concentrations are increased in premenstrual syndrome (PMS), and that this may be associated with the psychological symptoms of the disease. We obtained fasting venous samples from 32 women with PMS and 28 women with asymptomatic menstrual cycles, matched for age, body mass index and menstrual cycle length. Leptin concentrations were measured by radioimmunoassay. Leptin concentrations increased significantly during the luteal phases of the menstrual cycles of the control and PMS groups as compared with the follicular phase, having excluded the 11 women with PMS and six controls found to be anovulatory on the basis of mid-luteal plasma progesterone concentrations from the analysis. A greater increase was observed in women with PMS than the controls (P: = 0.00006 and 0.003 respectively). Although leptin concentrations in the follicular and luteal phases were higher in PMS than the controls, the difference was only statistically significant between the follicular phases (P: = 0.001). There was no clear relationship between leptin and oestradiol or progesterone in this study. These findings suggest that leptin may play a role in the pathophysiology of the disease, and requires further evaluation. 相似文献
995.
Mikls Miltnyi Andrew E. Czeizel Lidia Balogh Zoltn Detre 《American journal of medical genetics. Part A》1992,43(5):789-790
We describe two sibs with tetraectrodactyly and oligomeganephronic renal hypoplasia. The parents were unaffected. This syndrome of apparently autosomal recessive origin appears to be the first Mendelian form of the acrorenal developmental field defect identified so far. © 1992 Wiley-Liss, Inc. 相似文献
996.
Specific antibody production and the proliferative response of peripheral blood lymphocytes (PBLs) to a variety of viruses, including herpes simplex virus-type-1 (HSV-1) and varicella zoster (VZ), were studied in 7 patients with Behçet's syndrome. None of the patients produced an antibody response against HSV-1 or VZ. Furthermore, none of the patients showed a proliferative response to VZ, and three of them also failed to mount a response to HSV-I. These results suggest that the PBLs of patients with Behçet's syndrome make an inappropriately poor antibody and proliferative response when stimulated by HSV-1 and VZ. 相似文献
997.
A Weaver-like syndrome in a Japanese boy 总被引:2,自引:0,他引:2
A 5½-year-old Japanese boy with a Weaver-like syndrome is reported. In addition to pre- and post-natal overgrowth, mental retardation, an unusual craniofacial appearance and other abnormalities characteristic of the Weaver syndrome, he had several clinical features not described in this syndrome. These unusual features included mongoloid slanting of the palpebral fissures, cleft lip, accessory nipples, pectus excavatum, a bifid xyphoid process, irregularly shaped vertebral bodies, inflexible right thumb, clinodactyly of the fifth fingers, abnormal dermatoglyphic patterns and deep plantar furrows. His carpal bone age corresponded to his chronological age, while the tubular bone age was accelerated. 相似文献
998.
Summary We report on a sporadic case satisfied with a proposed diagnostic criteria for Cohen syndrome. This 10 year-old Japanese boy
had truncal obesity, short stature, mild mental retardation, hypotonia, maxillary hypoplasia, micrognathia, narrow hands and
feet, high-arched palate, prominent upper central incisors, high nasal bridge, but no pigmentary retinopathy. Autosomal recessive
manner of inheritance was suggested by the pedigree. 相似文献
999.
Karl-Henrik Gustavson Ylva Flodérus Sten Jagell Lennart Wetterberg Svante B. Ross 《Clinical genetics》1982,22(1):22-24
Catechol-O-methyltransferase (COMT) activity in erythrocytes was measured in six children with Down's syndrome and in their parents to determine if COMT activity is related to a gene on chromosome 21. A gene dosage effect was a possible explanation of the COMT value in three of the children but not in the other three. 相似文献
1000.
L.E. Scutt E.W.C. Chow R. Weksberg W.G. Honer Anne S. Bassett 《American journal of medical genetics. Part A》2001,105(8):713-723
Congenital dysmorphic features are prevalent in schizophrenia and may reflect underlying neurodevelopmental abnormalities. A cluster analysis approach delineating patterns of dysmorphic features has been used in genetics to classify individuals into more etiologically homogeneous subgroups. In the present study, this approach was applied to schizophrenia, using a sample with a suspected genetic syndrome as a testable model. Subjects (n = 159) with schizophrenia or schizoaffective disorder were ascertained from chronic patient populations (random, n = 123) or referred with possible 22q11 deletion syndrome (referred, n = 36). All subjects were evaluated for presence or absence of 70 reliably assessed dysmorphic features, which were used in a three‐step cluster analysis. The analysis produced four major clusters with different patterns of dysmorphic features. Significant between–cluster differences were found for rates of 37 dysmorphic features (P < 0.05), median number of dysmorphic features (P = 0.0001), and validating features not used in the cluster analysis: mild mental retardation (P = 0.001) and congenital heart defects (P = 0.002). Two clusters (1 and 4) appeared to represent more developmental subgroups of schizophrenia with elevated rates of dysmorphic features and validating features. Cluster 1 (n = 27) comprised mostly referred subjects. Cluster 4 (n = 18) had a different pattern of dysmorphic features; one subject had a mosaic Turner syndrome variant. Two other clusters had lower rates and patterns of features consistent with those found in previous studies of schizophrenia. Delineating patterns of dysmorphic features may help identify subgroups that could represent neurodevelopmental forms of schizophrenia with more homogeneous origins. © 2001 Wiley‐Liss, Inc. 相似文献