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排序方式: 共有974条查询结果,搜索用时 15 毫秒
101.
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications 总被引:1,自引:0,他引:1
Platelets have a central role in the development of arterial thrombosis and subsequent cardiovascular events. An appreciation of this complex process has made antiplatelet therapy the cornerstone of cardiovascular disease management. However, numerous patients will experience a recurrent atherothrombotic vascular event despite adequate antiplatelet therapy. Individual differences in the rate of platelet activation and reactivity markedly influence normal hemostasis and the pathological outcome of thrombosis. Such an individual variability is largely determined by environmental and genetic factors. These are known to either hamper platelets' response to agonists, and thereby mimic the pharmacological modulation of platelet function or mask therapy effect and sensitize platelets. In this article, we reviewed the antiplatelet mechanisms of aspirin and clopidogrel and the possible role of different polymorphisms, which may affect the efficacy of antiplatelet therapy. Heterogeneity in the way patients respond to aspirin and clopidogrel may in part reflect variation in cyclooxygenase (COX)-1, COX-2, glycoprotein (GP) Ib alpha, GP Ia/IIa, GP IIb/IIIa, UGT1A6*2, P2Y1 , P2Y12 , CYP2C9, CYP3A4 and CYP3A5 genotypes. 相似文献
102.
GM Repetto ML Guzmán A Puga JF Calderón CP Astete M Aracena M Arriaza T Aravena P Sanz 《Clinical genetics》2009,76(5):465-470
Patients with chromosome 22q11 deletion syndrome exhibit significant phenotypic variability. Epidemiologic data suggest a higher incidence in Hispanics, but limited clinical information is available from Latin-American patients. We describe the clinical features of Chilean patients with 22q11 deletion syndrome and compare their findings with those reported in large European, Japanese and US series. Data were obtained from 208 patients from five medical centers. Mean age at diagnosis was 5.2 years, with a median of 2.3 years. Congenital heart defects were present in 59.6%, lower than other large series that averaged 75.8%. Palate abnormalities were present in 79%, higher than previous reports averaging 56%. Patients with congenital heart disease were diagnosed earlier (median 0.3 years of age) than those without heart defects (median 5.6 years) and had greater mortality attributable to the syndrome (9.8% vs 2.4%, respectively). The differences in frequencies of major anomalies may be due to growing awareness of more subtle manifestations of the syndrome, differences in clinical ascertainment or the presence of modifier factors. These observations provide additional data useful for patient counseling and for the proposal of health care guidelines. 相似文献
103.
104.
Diabetes, oxidative stress, and platelet activation 总被引:1,自引:0,他引:1
105.
The nuclear concentration of kin17, a mouse protein that binds to curved DNA, increases during cell proliferation and after UV irradiation 总被引:2,自引:1,他引:1
Kannouche P; Pinon-Lataillade G; Tissier A; Chevalier-Lagente O; Sarasin A; Mezzina M; Angulo JF 《Carcinogenesis》1998,19(5):781-789
UV-irradiation induces, in mammalian cells, the expression of a set of
genes known as the 'UV-response', which may be reminiscent of the bacterial
response, called SOS system. The multifunctional protein RecA controls the
expression of the SOS genes. We report the expression profile of a mouse
gene conserved among mammals, called Kin17, that codes a DNA-binding
protein of undetermined biochemical activity and which shares epitopes with
the bacterial RecA protein. We demonstrate that the level of Kin17 RNA was
5-fold higher in mid-S phase of serum- stimulated BALB/c 3T3 fibroblasts
than in quiescent cells. Cells in S- phase displayed a high level of kin17
protein with a marked nuclear localisation. The maximal level of Kin17 RNA
was observed 18 h after serum stimulation, indicating that Kin17 gene is a
new member of the late growth-related genes. The accumulation of kin17
protein during cell proliferation follows the increase in Kin17 RNA and
correlates with DNA synthesis, which suggests a possible role of kin17
protein in a transaction related to DNA-replication. In quiescent
fibroblasts, a 3- fold increase in Kin17 RNA was seen 13 h after UV
irradiation. In parallel, kin17 protein accumulated in the nucleus, which
suggests that it might be required after the stress produced by UV
irradiation.
相似文献
106.
107.
108.
Patients with the syndrome of chronic daily headache often report migrainous symptoms and consequently are diagnosed as having a primary headache syndrome. We report two cases of idiopathic intracranial hypertension causing chronic daily headache with migrainous features in the absence of associated papilledema. 相似文献
109.
The efficacy of concurrent radiochemotherapy should be evaluated in term of therapeutic ratio. The aims of treatment are increasing local control and possibly overall survival. Acute toxicity should be reported using the WHO recommendations, while late toxicity is reported using the scales recommended by the EORTC and RTOC Radiotherapy Groups. Moreover, functional, esthetic and quality of life considerations should be introduced. The application of these treatments needs a well-designed multidisciplinary staff. 相似文献
110.
S. Naik A. Greenough F. Giffin G. Dimitriou JF Price 《Acta paediatrica (Oslo, Norway : 1992)》1997,86(12):1298-1300
In a 9-y prospective study, the occurrence and duration of lung volume abnormalities in 21 young asthmatic children (median age at recruitment 4y, range 3–8 y) was determined. The median functional residual capacity (FRC) at recruitment was 135% of that predicted for height (range 79–187%) and 13 children were hyperinflated. The median FRC decreased significantly after 3 y of follow-up and by 9 y only one child remained hyperinflated. We conclude that persistent elevation of lung volume in young asthmatic children appears to be uncommon. 相似文献