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101.
102.
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2) 总被引:13,自引:5,他引:8
Serratosa JM; Gomez-Garre P; Gallardo ME; Anta B; de Bernabe DB; Lindhout D; Augustijn PB; Tassinari CA; Malafosse RM; Topcu M; Grid D; Dravet C; Berkovic SF; de Cordoba SR 《Human molecular genetics》1999,8(2):345-352
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2;
McKusick no. 254780) is an autosomal recessive disorder characterized by
epilepsy, myoclonus, progressive neurological deterioration and
glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for
EPM2 previously has been mapped to chromosome 6q23- q25 using linkage
analysis and homozygosity mapping. Here we report the positional cloning of
the 6q EPM2 gene. A microdeletion within the EPM2 critical region, present
inhomozygosis in an affected individual, was found to disrupt a novel gene
encoding a putative protein tyrosine phosphatase (PTPase). The gene,
denoted EPM2, presents alternative splicing in the 5' and 3' end regions.
Mutational analysis revealed that EPM2 patients are homozygous for
loss-of-function mutations in EPM2. These findings suggest that Lafora
disease results from the mutational inactivation of a PTPase activity that
may be important in the control of glycogen metabolism.
相似文献
103.
104.
Impaired growth in children with asthma during treatment with conventional doses of inhaled corticosteroids 总被引:1,自引:0,他引:1
We describe 6 (4F, 2M) prepubertal children with moderate asthma diagnosed at a mean age of 2.8 years. All patients were treated with inhaled corticosteroids in a dose of between 300 and 800 mcg of beclomethasone diproprionate (becotide) daily, given either as an aerosol or rotahaler. Mean height velocity SDS decreased from −0.8(range +0.5 to −2.0)to −3.2(range −1.3 to −4.8) when the dose was increased. Alternatively, when the dose was reduced or stopped, mean height velocity SDS increased from −3.2 (range −2.0 to −4.8) to +0.8 (range −1.2 to +2.7). Careful assessment of height velocity is indicated in all children receiving treatment with inhaled corticosteroids. 相似文献
105.
Two young children with salt-losing congenital adrenal hyperplasia developed profound hypoglycaemia. In one child hypoglycaemia occurred after a prolonged fast and in the other it was precipitated by infection. This complication may be more common than the literature suggests, and emergency treatment with glucose or hydrocortisone, given by injection, should be given to any child with the disorder who suddenly or unexpectedly collapses. 相似文献
106.
Fiorentini G Poddie DB De Giorgi U Guglielminetti D Giovanis P Leoni M Latino W Dazzi C Cariello A Turci D Marangolo M 《Medical oncology (Northwood, London, England)》2000,17(3):163-173
Liver metastases of colorectal cancer is present in more than 20% of new diagnosed patients and in 40–60% of relapsed patients.
It is a life-threatening prognostic aspect. Hepatic resection, when possible, is the best therapeutic modality, although the
overall survival rate is still low (30%). Angiography and intraoperative ultrasonography are useful for resection. The number
of hepatic metastases and the surgical margin are probably the most significant prognostic factors. Colorectal cancer may
spread predominantly to the liver making regional treatment strategies viable options. Subtotal hepatic resections and segmentectomies
are potentially curable procedures for single or small numbers of hepatic metastases without other sites of disease. However,
there have been no prospective randomized trials comparing patients with unresected liver metastases and resected metastases.
Regional chemotherapy with floxuridine seems usefull combined with hepatic resection or as palliative therapy. Gastric ulcer
and biliary sclerosis are the main related toxicities. Patients with localized, unresectable hepatic metastases or concomitant
bad medical condition may be candidates for radiation, percutaneous ethanol injection, cryosurgery, percutaneous radiofrequency,
hypoxic flow-stop perfusions with bioreductive alkylating agents, hepatic arterial ligation, embolization and chemoembolization.
These new hepatic-directed modalities of treatment are being investigated and may offer new approaches to providing palliation
and prolonging survival. This review will report the possibilities of intra-arterial chemotherapy and other novel hepatic-directed
approaches to the treatment of liver metastases from colorectal cancer. 相似文献
107.
Sarwer DB Allison KC Gibbons LM Markowitz JT Nelson DB 《Journal of women's health (2002)》2006,15(6):720-733
At present, more than 60% of American women of childbearing age are either overweight or obese. As the obesity epidemic in the United States and many other countries continues to grow unchecked, there is greater interest in the relationship between obesity and other major health issues. This paper reviews the literature on the relationship between obesity and pregnancy. We begin with a discussion of the relationship between excess body weight and fertility and then turn to the relationship between maternal body weight and pregnancy-related complications. The role of pregnancy as a possible risk factor for the development of obesity is noted. The studies investigating the efficacy of behavioral interventions to control excessive weight gain during pregnancy or help women lose weight after childbirth are then reviewed. The paper concludes with an agenda for future research examining the relationship between obesity and pregnancy. 相似文献
108.
Sarwer DB Cohn NI Gibbons LM Magee L Crerand CE Raper SE Rosato EF Williams NN Wadden TA 《Obesity surgery》2004,14(9):1148-1156
Background: This study investigated the psychiatric diagnoses and psychiatric treatment histories of 90 bariatric surgery
candidates. Methods: Prior to surgery, all participants completed the Weight and Lifestyle Inventory, the Questionnaire on
Eating and Weight Patterns, and the Beck Depression Inventory-II. Participants also underwent a behavioral/psychological evaluation
with a psychologist, which reviewed responses to the measures and provided further assessment of participants' psychiatric
status. The evaluation also was used to produce a recommendation on the patients' psychological appropriateness for surgery.
Results: Almost two-thirds of patients received a psychiatric diagnosis, the most common of which was major depressive disorder.
Nearly two-fifths of all participants, and more than half of those given a psychiatric diagnosis, were engaged in some form
of psychiatric treatment at the time of the evaluation. Nevertheless, 64% of patients were unconditionally approved for surgery;
31% were recommended for additional psychiatric or nutritional counseling prior to surgery. Three patients were not recommended
for surgery. Conclusion: Results of this study provide important information on the preoperative psychiatric status and treatment
histories of bariatric surgery candidates. Given the increasing population of bariatric surgery patients, evaluation of patients'
preoperative psychiatric status may play an important role in maximizing successful postoperative outcomes. 相似文献
109.
Comparison of pulmonary and pleural responses of rats and hamsters to inhaled refractory ceramic fibers 总被引:1,自引:1,他引:0
Gelzleichter TR; Bermudez E; Mangum JB; Wong BA; Janszen DB; Moss OR; Everitt JI 《Toxicological sciences》1999,49(1):93-101
The present study was designed to determine whether pleural fiber burdens
or subchronic pleural fibroproliferative and inflammatory changes can help
explain the marked interspecies differences in pleural fibrosis and
mesothelioma that are observed following long-term inhalation of RCF-1
ceramic fibers by rats and hamsters. Fischer 344 rats and Syrian golden
hamsters were exposed to RCF-1 for 4 h per day, 5 days per week, for 12
consecutive weeks. Lung and pleural fiber burdens were characterized during
and after exposure. For all time points, approximately 67% of fibers
associated with lung tissues from both rats and hamsters were longer than 5
microns in length. In comparison, fibers longer than 5 microns recovered
from the pleural compartment, following a 12-week exposure and 12 weeks of
recovery, accounted for 13% (hamsters) and 4% (rats) of the distribution.
In the 12 weeks after the cessation of exposure, the number of fibers
longer than 5 microns in length remained constant in the hamster at
approximately 150 fibers per cm2 pleura. This was 2 to 3 times the
corresponding fiber surface density in the rat. Significant pulmonary and
pleural inflammation was detected at all time points and for both species.
DNA synthesis by pleural mesothelial cells was quantified by
bromodeoxyuridine uptake following 3 days of labeling. Labeling indices
were higher in hamsters than in rats, both for RCF-1-exposed and filtered
air-control animals and was highest for the parietal surface of the pleura.
Significantly greater collagen deposition was measured in the visceral
pleura of hamsters 12 weeks post-exposure but was not significantly
elevated in rats. These findings demonstrate that subchronic inhalation
exposure to RCF-1 induces pleural inflammation, mesothelial-cell turnover,
pleural fibrosis, and an accumulation of fibers with a length greater than
5 microns in the hamster. The accumulation of long fibers in the pleural
space may contribute to the pathology observed in the hamster following
chronic inhalation of RCF- 1, whereas the presence of short, thin fibers
may play a role in the acute-phase biological response seen in both
species.
相似文献
110.
Adult height in women with early-treated congenital adrenal hyperplasia (21-hydroxylase type): relation to body mass index in earlier childhood 总被引:1,自引:0,他引:1
To investigate if obesity, as judged by increased body mass index (BMI), during childhood is associated with impaired adult stature in patients with 21-hydroxylase-type congenital adrenal hyperplasia (CAH), a retrospective analysis was carried out on outpatient records of 30 girls with CAH who had reached adult height. Height SD score for age (HtSDS(ca)), HtSDS for bone age (HtSDS(ba)), BMI and steroid dosage in early childhood (3.2-4.6 years) and later childhood (7.2-9.1 years), were compared with adult HtSDS (HtSDS(adlt)), adult HtSDS less mid-parental HtSDS (HtSDS(adlt) - HtSDS(mp)), predicted adult height SDS (HtSDS(pdct)), adult height SDS less predicted adult HtSDS (HtSDS(adlt) - HtSDS(pdct)) and age at menarche. Mean (SD) for HtSDS(adlt) was -1.13 (1.05), mean HtSDS(pdct) -0.12 (0.9) and mean age at menarche 13.5 (1.9) years. BMI in childhood was not correlated with HtSDS(adlt) but showed negative correlations with HtSDS(adlt) - HtSDS(mp) (r = -0.43; p < 0.02) and HtSDS(adlt) - HtSDS(pdct) (r - 0.45; p < 0.02). BMI in later childhood showed negative correlations with HtSDS(adlt) - HtSDS(pdct) (r = -0.61; p < 0.001) and age at menarche (r = -0.63; p < 0.001). We conclude that in girls with early-treated CAH, a high BMI during early childhood is associated with loss of genetic height potential, and in later childhood with over-prediction of adult height and early menarche. Adult stature, body mass index, congenital adrenal hyperplasia (21-hydroxylase type), predicted adult height
DB Grant, Medical Unit, Institute of Child Health, Guilford Street, London WC1N 1EH, UK 相似文献
DB Grant, Medical Unit, Institute of Child Health, Guilford Street, London WC1N 1EH, UK 相似文献