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1.
Calciphylaxis – a topical overview 总被引:3,自引:0,他引:3
G Arseculeratne† AT Evans‡ SM Morley† 《Journal of the European Academy of Dermatology and Venereology》2006,20(5):493-502
'Calciphylaxis', a calcification syndrome associated with ischaemic cutaneous necrosis, is acquired naturally in humans in disease states. It is a life and limb-threatening complication, usually observed in patients with renal disease and secondary hyperparathyroidism, but known to occur in the absence of renal or parathyroid disease. The reported mortality rate, which ranges from 60-80%, relates to wound infection, sepsis and organ failure. It is a small-vessel vasculopathy, which is estimated to occur in about 4% of haemodialysis patients. Clinically, violaceous, reticulate areas of cutaneous necrosis and eschar may be evident, particularly in the extremities. In addition to the clinical picture, a raised calcium phosphorous product, an elevated parathyroid hormone level, radiographic evidence of vessel and soft-tissue calcification and the finding of mural calcification affecting small arteries and arterioles on histopathology help to confirm the diagnosis of this entity which generally has a poor prognosis. A high index of suspicion and an active multidisciplinary management approach, with rigorous attention to wound care and prevention of sepsis, are vital in the management of these patients. In this overview, we discuss the pathophysiology, clinical features and associations, risk factors, diagnosis and management issues relating to calciphylaxis. 相似文献
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3.
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy 总被引:3,自引:0,他引:3
Kelsell RE; Gregory-Evans K; Payne AM; Perrault I; Kaplan J; Yang RB; Garbers DL; Bird AC; Moore AT; Hunt DM 《Human molecular genetics》1998,7(7):1179-1184
The dominant cone-rod dystrophy gene CORD6 has previously been mapped to
within an 8 cM interval on chromosome 17p12-p13. The retinal- specific
guanylate cyclase gene (RETGC-1), which maps to within this genetic
interval and previously was implicated in Leber's congenital amaurosis, was
screened for mutations within this family and in a panel of small families
and individuals with various cone and cone- rod dystrophy phenotypes. A
missense mutation (E837D) was identified in affected members of the CORD6
family, as well as a second missense mutation (R838C) in three other
families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene
to be implicated in cone-rod dystrophy and this is the first report of
dominant mutations in this gene.
相似文献
4.
Anderson RA; Wallace AM; Kicman AT; Wu FC 《Human reproduction (Oxford, England)》1997,12(8):1657-1662
Administration of supraphysiological doses of testosterone to normal men
causes inhibition of spermatogenesis, but while most become azoospermic,
30-55% maintain a low rate of spermatogenesis. We have investigated whether
there are differences in endogenous androgen production, of testicular and
adrenal origin, which may be related to the degree of suppression of
spermatogenesis. Thirty-three healthy Caucasian men were given weekly i.m.
injections of 200 mg testosterone oenanthate (TE), 18 became azoospermic,
while 15 remained oligozoospermic. Urinary excretion of epitestosterone, a
specific testicular product, was reduced to <10% of pretreatment values,
with no differences between the groups. Similar results were obtained for
other markers of testicular steroidogenesis. Urinary and plasma adrenal
androgens were also reduced during TE treatment: a statistically
significant decrease in both (P < 0.001 and P < 0.05 respectively)
was seen in the azoospermic but not oligozoospermic responders. These
results suggest that testicular steroidogenesis is decreased to <10% by
the administration of supraphysiological doses of exogenous testosterone.
Differences in the degree of ongoing steroidogenesis in the testis do not
appear to account for incomplete suppression of spermatogenesis, thus
differences in androgen metabolism may underlie this heterogeneous
response. A small but significant reduction in secretion of adrenal
androgens was also detectable, the relevance of which is unclear.
相似文献
5.
Tamanini F; Willemsen R; van Unen L; Bontekoe C; Galjaard H; Oostra BA; Hoogeveen AT 《Human molecular genetics》1997,6(8):1315-1322
Lack of expression of the fragile X mental retardation protein (FMRP)
results in mental retardation and macroorchidism, seen as the major
pathological symptoms in fragile X patients. FMRP is a cytoplasmic RNA-
binding protein which cosediments with the 60S ribosomal subunit. Recently,
two proteins homologous to FMRP were discovered: FXR1 and FXR2. These novel
proteins interact with FMRP and with each other and they are also
associated with the 60S ribosomal subunit. Here, we studied the expression
pattern of the three proteins in brain and testis by immunohistochemistry.
In adult brain, FMR1, FXR1 and FXR2 proteins are coexpressed in the
cytoplasm of specific differentiated neurons only. However, we observed a
different expression pattern in fetal brain as well as in adult and fetal
testis, suggesting independent functions for the three proteins in those
tissues during embryonic development and adult life.
相似文献
6.
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8.
Ebru Akgul M.D. Utku Kutuk M.D. Sibel Ertek M.D. Mustafa Cesur M.D. Sengul Cehreli M.D. Hasan Fehmi Tore M.D. Gurbuz Erdogan M.D. 《Echocardiography (Mount Kisco, N.Y.)》2011,28(1):15-21
Objective: Autoimmune chronic thyroiditis (ACT) is characterized by lymphocyte infiltration in the thyroid gland and the presence of antithyroid antibodies in serum. Medical treatment does not affect antibody levels and treatment decision is not definite yet for the euthyroid patients. We aimed to evaluate cardiac autonomic function and global left ventricular performance in autoimmune euthyroid chronic thyroiditis and determine the need for medical treatment. Method: We studied 30 ACT patients and 25 healthy control subjects. Cardiac autonomic function is evaluated by heart rate recovery (HRR). Global left ventricular performance is evaluated by two‐dimensional echocardiography and pulsed‐wave tissue Doppler echocardiography. Results: There was no difference between patients and controls with respect to clinical and biochemical parameters except hemoglobin (13.67 ± 1.25 g/dL, 14.51 ± 1.35 g/dL, p:0.047) and low density lipoprotein (120.71 ± 24.91 mg/dL, 100.55 ± 14.73 mg/dL, p: 0.003). Tei index was significantly higher in ACT group (0.521 ± 0.074, 0.434 ± 0.034, P < 0.0001). E′/A′ was found to be significantly lower (1.234 ± 0.42, 1.750 ± 0.291, P < 0.0001) and E/E′ was found to be higher than the controls (8.482 ± 0.449, 6.039 ± 0.209, P < 0.0001). HRR was significantly lower than the controls (20 ± 4 BPM, 30 ± 8 BPM, P < 0.0001). Conclusion: Although left ventricular performance is found to be normal by conventional echocardiographic methods, it is found to be impaired when Tei index and tissue Doppler parameters are used. Cardiac autonomic function is also impaired in ACT patients. As a result of these cardiac changes, medical treatment may be considered earlier, even at the euthyroid stage. (Echocardiography 2011;28:15‐21) 相似文献
9.
Peracchi M; Toschi V; Bamonti-Catena F; Lombardi L; Bareggi B; Cortelezzi A; Colombi M; Maiolo AT; Polli EE 《Blood》1987,69(6):1613-1616
To verify the clinical usefulness of extracellular cyclic nucleotide determination as a tumor marker, plasma cyclic AMP (cAMP) and cyclic GMP (cGMP) levels were measured in 70 normal subjects and 173 acute leukemia patients studied in different stages of their disease. Mean plasma cAMP levels were similar in leukemic and normal subjects, although in 48 patients in the active stage of the disease, first diagnosis, or relapse, the cAMP values were below the normal range, and most of these patients failed to respond to chemotherapy. Plasma cGMP levels were markedly elevated in untreated patients, normalized in all patients who attained complete remission, and increased promptly to pretreatment values in patients who relapsed, suggesting that their determination may be useful to monitor the patients' response to treatment. 相似文献
10.
Yesim Salik Sengul Nergis Kaya Gamze Yalcinkaya Muge Kirmizi Orhan Kalemci 《Explore (New York, N.Y.)》2021,17(4):334-339
ContextPatients who have suffered from persistent symptoms often undergo lumbar spinal surgery (LSS). Motor imagery should be added to postoperative home exercises to reduce patient complaints.ObjectiveThe aim of this study was to compare the effects of home exercise plus motor imagery and only home exercise in patients undergoing LSS.DesignA randomized controlled study.SettingsThis study was designed by researchers at Dokuz Eylul University.ParticipantsThirty-seven patients undergoing LSS were randomized to motor imagery group (n = 19) and control group (n = 18).Main outcome measuresPain was measured by Visual Analogue Scale, disability related to low back pain by Oswestry Disability Index, pain-related fear by Tampa Scale of Kinesiophobia, depression by Beck Depression Inventory, quality of life by World Health Organization Quality of Life Scale-Short Form (WHOQOL-BREF). All assessments were repeated in the preoperative period, three weeks after and six weeks after the surgery.InterventionsMotor imagery group underwent home exercise plus motor imagery program applied by voice recording. Control group underwent only home exercise program. Exercise program compliance was monitored by exercise diary and telephone calls once every week.ResultsThere was a significant improvement in pain at rest and during activity, disability, kinesiophobia, depression, physical health and psychological sub-parameters of WHOQOL-BREF between preoperative period, and the third week and sixth week in both groups (p < 0.05). When comparing groups for gain scores, there was a more significant improvement in pain during activity in motor imagery group (p < 0.05). Motor imagery should be addressed as an effective treatment after LSS. 相似文献