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The KID-syndrome in Finland. A report of four cases   总被引:2,自引:0,他引:2  
We describe a rare syndrome in a Finnish family, in which the father and his two sons are congenitally deaf and also exhibit corneal vascularization, and hyperkeratosis of the skin of the palms, soles, elbows and knees. In addition, all 3 suffer from fungal infections of the skin and nails. We also describe a fourth, sporadic case of a 9-year-old girl with the same disease. The KID (k = keratitis, i = ichthyosis, d = deafness) syndrome is an ectodermal dysplasia that probably arises through mutation, and is transmitted as an autosomal dominant in the family described by us.  相似文献   
64.
Summary In the last decades back pain has reached dramatic proportions in industrialized countries. Disorders of the back are nowadays the leading cause of direct and indirect health care costs. Accurate prevalence estimates are needed to serve as a basis for health care evaluations. A review of epidemiologic studies in the general population reveals that back pain has reached a prevalence of 40 % for current pain. 7 to 18 % are “frequently”, “often”, “daily” or “constantly” affected. 75 % of the adult population suffers from back pain during the last year. 80 to 90 % of the adult population in industrialized countries experience back pain ever. Gender specific differences are only present in severe, chronic forms which are more often experienced by women. Back pain has a prevalence maximum at 50 to 64 years. Older persons display lower prevalence estimates. The prevalence maximum in men is one decade earlier than in women. There are several potential explanations for this prevalence pattern that are discussed in the article. Back pain can be classified by location, temporal characteristics, pain intensity and pain history. Currently, for none of these dimensions generally accepted, uniformly employed and validated definitions are available. In most of the industrialized countries back pain is one of the most expensive symptoms. 75–90 % of the direct and indirect health care costs were caused by those 5–10 % of patients who are disabled. As predictors of back pain a history of back pain and job satisfaction play by far a more important role than the extensively studied mechanical factors. For a first episode of back pain the prognosis is favorable. If the pain persist for more than three months the prognosis is unfavorable. After six months of absenteeism because of back pain more than half of the afflicted never return to work. Rarely back pain is present as a single symptom. In more than 80 % back pain is associated with pain in at least one joint. It remains to be studied if back pain may be viewed as an entity or as part of a more complex pain syndrome.   相似文献   
65.
From 1980 to 1990 152 patients underwent Fontan operation at our institution. The following patient groups amenable for Fontan operation were identified: 1) patients with tricuspid atresia (n=82, 54.0%); 2) patients with single ventricle (n=31,20.3%), 3) patients with a wide variety of “complex”, non correctable cardiac malformations (n=39, 25.7%). Actuarial survival rate was 83.8±3.1% (mean±SEM) at 10 years. Follow up revealed, that more than 90.0% of the patients feel better than before operation, about 50.0% are without cyanosis, more than 70.0% are in sinus rhythm, and 90.0% of the patients are socialized according to their age. Considering the poor prognosis of these patients without an operation, the Fontan procedure offers a sufficient palliative method in the therapeutic approach up to now.  相似文献   
66.
The aim of this study was to investigate factors associated with life dissatisfaction in symptomatic patients (n = 144) with chest pain subsequently diagnosed as coronary heart disease (CHD) by coronary angiography. Life dissatisfaction was assessed with a four-item life satisfaction scale (LS), depression with the 21-item Beck Depression Inventory (BDI) and other psychiatric symptoms with the symptom check list (SCL). DSM-III-R Axis I and Axis II psychiatric diagnoses were performed by means of the Structured Clinical Interview. All assessments took place one day before angiography. Twenty-four per cent of CHD patients were dissatisfied with their lives. Life dissatisfaction was associated with being unmarried. Dissatisfied patients had Axis I mental disorders and Axis II personality disorders more frequently than others. Psychiatric and depressive symptoms according to the SCL and BDI, respectively, were also higher among dissatisfied patients. In multiple logistic regression analyses, mental disorders were related to life dissatisfaction when age, sex, employment status, New York Heart Association class, duration of chest pain symptoms and work load were controlled in the model. Married subjects had a lower probability of being dissatisfied with their lives than other subjects (Odds Ratio, OR: 0.23). When BDI scores were included in the model, the only factor independently associated with life dissatisfaction was the severity of depressive symptoms (OR: 1.81). To conclude, life dissatisfaction is not primarily determined by the severity of CHD but by the existence of depressive symptoms.  相似文献   
67.
Osteotomies of the distal femur were fixed with two self-reinforced poly-L-lactic acid (SR-PLLA) plates and metallic screws placed through the plates on each side of the femur in 23 adult rabbits. They were followed-up after 3, 6, 12 and 24 weeks. After killing, radiological, histological, microradiographic and oxytetracycline fluorescence studies were performed. Except for one histologically confirmed fibrotic non-union at 24 weeks, the osteotomies healed, including one involving a rabbit which had suffered an ipsilateral femoral shaft fracture of unknown cause. No malformations were observed, and the macroscopically detected swelling was a normal postoperative reaction. This study showed that SR-PLLA plates implanted on both sides on the bone are suitable for the fixation of weight-bearing cancellous bone osteotomies in rabbits.  相似文献   
68.
Schlu?folgerungen Unser Motto in der Chirurgie sollte hei?en: „An erster Stelle steht die Qualit?t, erst sekund?r kommen die Kosten.“ In diesem Sinne verstehen wir auch die vorgelegte Arbeit vonKriwanek et al. (1). Durch den Gebrauch von wiederverwendbaren Instrumenten (oder Kombinationen davon) konnten die Kosten der LC um 50 bis 70% reduziert werden. Die Qualit?t für den Chirurgen litt jedoch unter dem reinen Gebrauch von wiederverwendbaren Instrumenten. Deshalb erachten es die Autoren für sinnvoll, eine Kombination zwischen Wegwerfinstrumenten und wiederverwendbaren Instrumenten anzuwenden. Damit entsteht unter leichter Erh?hung der Kosten keine Qualit?tseinbu?e und demzufolge ein maximaler Nutzen für die Patienten (nicht jedoch für die Spital?konomen). Jede Kosten-Nutzen-Analyse unterliegt jedoch einem stetigen Flu? und ver?ndert sich demzufolge auch mit der Einführung neuer Produkte und Technologien von Seite der Industrie. Interessant für die gesamte Laparoskopie wird es jedoch dann, wenn solche Kosten-Nutzen-Analysen auf andere Gebiete wie z. B. die Therapie der Leistenhernie oder der Gallengangssteine übertragen werden. Diese Ergebnisse werden die weitere Zukunft der laparoskopischen Chirurgie wesentlich beeinflussen. Deshalb gilt es für uns Chirurgen, eine Sensibilit?t für ?konomische Aspekte zu entwickeln und Kosten-Nutzen-Analysen für das eigene Spital (wie hier gezeigt) zu erarbeiten.  相似文献   
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According to Sperry's chemoaffinity hypothesis, the projection of a small eye fragment with a reduced amount of optic fibres should be restricted to that position in the optic tectum corresponding to its own specificity. However, previous investigations on different types of quarter-eyes in Xenopus laevis have revealed that their retinal projection was always restricted to the rostral part of the tectum, no matter what the origin of the remaining retinal quadrant. To get an indication of the state of specificity in such eye fragments, we investigated by electrophysiological and histological methods several features of the retinal projections of temporoventral (TV), naso-ventral (NV) and ventral (V) quarter-eyes which referred to their positional identity. Irrespective of their different origins, the projections were always located in the rostral part of the tectum, the size of the innervated tectal area depending for all fragment types on the size of the quarter-eyes, i.e. number of optic fibres. However, quantitative analyses revealed that with increasing eye size the various fragments expand their projections preferentially into those tectal areas that match their original specificity: TV projection is more concentrated in the rostral tectum, NV eyes expand their projections mainly to the caudal tectum, and V eyes enlarge their projections equally into the medial and caudal tectum. In addition, fibre-tracing experiments with cobaltic lysine showed that, according to the different origins of the quarter-eyes, retinal fibres follow the appropriate branch of the optic tract selectively: fibres of NV and V eyes pass mainly through the medial tract, and most fibres of TV eyes innervate the rostral tectum directly from a central position between the two side branches. All these findings suggest that the different types of quarter-eyes retain their original positional identity. Thus, their rostrally located retinotectal projections are not in register with their retinal specificity. We conclude that in X. laevis local positional markers in the tectum, if present at all, do not influence the development of the retinotectal projection. Instead we suggest a concept of self-sorting of the optic fibres, which can account for the partial innervation of the rostral tectum in different types of quarter-eyes.  相似文献   
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