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61.
Sperl W Murr C Skladal D Sass JO Suormala T Baumgartner R Wendel U 《European journal of pediatrics》2000,159(1-2):54-58
In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative
abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in
erythrocyte membrane lipids over a period of 1–8 years in five patients with early onset PA and present their clinical outcome.
After extraction from erythrocyte membrane lipids and esterification, fatty acids were analysed by capillary column gas chromatography.
The sum of the OLCFA 15- and 17- carbon saturated and 17-carbon monounsaturated fatty acids (C15:0, C17:0, C17:1) was calculated
and expressed as a percentage of the total C14-C22 fatty acids in the sample. Three patients (pccBC-complementation group)
presented with a stable clinical course and showed OLCFA values usually below 1.9% (median % ± SD: 1.4 ± 0.5, 1.6 ± 0.5, 1.8 ± 0.5).
Two patients (pccA-complementation group) had a more severe course of the disease and showed higher medians and a broader
range of OLCFA levels (2.2 ± 1.2 and 2.2 ± 0.8).
Conclusion Our study shows that odd-numbered long-chain fatty acid concentrations are increased in patients with propionic acidaemia
and are higher in those with a more severe clinical course. The value of odd-numbered long-chain fatty acids in the assessment
of the phenotypic severity and in the management of propionic acidaemia remains to be proven in a prospective long-term study
with more patients of differing phenotype.
Received: 15 January 1999 and in revised forms: 18 February 1999, 4 May 1999, 21 June 1999 and 13 July 1999 / Accepted: 14
July 1999 相似文献
62.
Maria Regina Torloni Nelson Sass Jussara Leiko Sato Ana Carolina Pinheiro Renzi Maísa Fukuyama Paula Rubia de Lucca 《Revista paulista de medicina》2008,126(3):145-149
CONTEXT AND OBJECTIVE: Accurate fetal weight estimation is important for labor and delivery management. So far, there has not been any conclusive evidence to indicate that any technique for fetal weight estimation is superior to any other. Clinical formulas for fetal weight estimation are easy to use but have not been extensively studied in the literature. This study aimed to evaluate the accuracy of clinical formulas for fetal weight estimation compared to maternal and ultrasound estimates. DESIGN AND SETTING: Prospective study involving 100 full-term, cephalic, singleton pregnancies delivered within three days of fetal weight estimation. The setting was a tertiary public teaching hospital in S?o Paulo, Brazil. METHODS: Upon admission, the mother's opinion about fetal weight was recorded. Symphyseal-fundal height and abdominal girth were measured and two formulas were used to calculate fetal weight. An ultrasound scan was then performed by a specialist to estimate fetal weight. The four estimates were compared with the birth weight. The accuracy of the estimates was assessed by calculating the percentage that was within 10% of actual birth weight for each method. The chi-squared test was used for comparisons and p < 0.05 was considered significant. RESULTS: The birth weight was correctly estimated (+/- 10%) in 59%, 57%, 61%, and 65% of the cases using the mother's estimate, two clinical formulas, and ultrasound estimate, respectively. The accuracy of the four methods did not differ significantly. CONCLUSION: Clinical formulas for fetal weight prediction are as accurate as maternal and ultrasound estimates. 相似文献
63.
64.
Phorbol ester-sensitive EL4 murine thymoma cells respond to phorbol 12-
myristate 13-acetate with activation of ERK mitogen-activated protein
kinases, synthesis of interleukin-2, and death, whereas phorbol ester-
resistant variants of this cell line do not exhibit these responses.
Additional aspects of the resistant phenotype were examined, using a
newly-established resistant cell line. Phorbol ester induced morphological
changes, ERK activation, calcium-dependent activation of the c-Jun
N-terminal kinase (JNK), interleukin-2 synthesis, and growth inhibition in
sensitive but not resistant cells. A series of protein kinase C activators
caused membrane translocation of protein kinase C's (PKCs) alpha, eta, and
theta in both cell lines. While PKC eta was expressed at higher levels in
sensitive than in resistant cells, overexpression of PKC eta did not
restore phorbol ester-induced ERK activation to resistant cells. In
sensitive cells, PKC activators had similar effects on cell viability and
ERK activation, but differed in their abilities to induce JNK activation
and interleukin-2 synthesis. PD 098059, an inhibitor of the mitogen
activated protein (MAP)/ERK kinase kinase MEK, partially inhibited ERK
activation and completely blocked phorbol ester-induced cell death in
sensitive cells. Thus MEK and/or ERK activation, but not JNK activation or
interleukin-2 synthesis, appears to be required for phorbol ester-induced
toxicity. Alterations in phorbol ester response pathways, rather than
altered expression of PKC isoforms, appear to confer phorbol ester
resistance to EL4 cells.
相似文献
65.
HM Karaka F Tokoglu M Kacar S Boyacigil 《Journal of Medical Imaging and Radiation Oncology》1997,41(2):179-180
A 54-year-old man with a unilocular hydatid cyst within the infero-posterior angle of the orbit and a 6-year-old male child with a unilocular hydatid cyst within the supero-medial angle of the orbit are presented. The retrobulbar cysts were diagnosed with computed tomography and ultrasonography and were treated after serologic confirmation. 相似文献
66.
HM Goodyear JC Moore-Gillon EH Price VF Larcher MO Savage CB Wood 《Archives of disease in childhood》1993,69(2):229-231
Childhood tuberculosis is perceived by many as a disease of the past. Experience in a children's hospital serving a deprived population suggested that tuberculosis and other mycobacterial infections were not declining in clinical practice. Fifty three tuberculous and 11 atypical mycobacterial infections were identified between 1978 and 1992. There was no decline in tuberculosis and nine of the 11 atypical infections occurred in the last five years. Altogether 40% of cases of tuberculosis were in non-Asian children; 32% had arrived in the UK or visited family overseas in the previous year; and 38% had a history of tuberculosis contact, usually a close adult relative. Nationally, the previous decline in tuberculosis in all ages has reversed. In the local health districts in London's east end, childhood tuberculosis has also stopped declining and seems to be increasing. It is regrettable that BCG vaccination has been abolished by some districts in the UK, against current recommendations. Childhood tuberculosis is still common in the practice described here, including among children who do not fall into conventionally recognised high risk groups. Inner city dwellers and junior doctors are both highly mobile populations, adding to the risk that paediatricians, particularly those in training, may encounter tuberculosis with little or no previous experience of the condition. 相似文献
67.
This paper explores the role of milk-based formulae in achieving four aspects of nutritional health in infants and toddlers: in the suckling, to mimic the amino acid metabolism and the faecal flora of a breast-fed baby; in the weanling, to achieve adequate protein intakes in later infancy and beyond and to achieve satisfactory haemoglobin concentrations in the early toddler years. Milk-based formulae have two roles in infant nutrition: as so-called breast milk substitutes and as a safety net during the weaning period; the latter role may be the more important. 相似文献
68.
MB Viana M Murao G Ramos HM Oliveira RI de Carvalho M de Bastos EA Colosimo WS Silvestrini 《Archives of disease in childhood》1994,71(4):304-310
One hundred and twenty eight Brazilian children with lymphoblastic leukaemia were intensively treated with a Berlin-Frankfurt-Munich based protocol. More children had a white cell count above 50 x 10(9)/l (31%) then observed in developed countries. After a median follow up of 31 months (11-58 months), the estimated probability of relapse free survival was 41% (7%) for the whole group. After adjustment in the Cox's multivariate model, malnutrition was the most significant adverse factor affecting duration of complete remission. Age above 8 years and high peripheral white cell count were also significant adverse factors. Among the nutritional indices, the height for age and weight for age z scores were both significant, whether the cut off points of z-2 or z = -1.28 were chosen to define malnutrition. A strong statistical association between the two indices was found; the contribution of height for age z score to the prediction of relapse free survival was more significant. Children with height for age z score < -2 had a relapse risk of 8.2 (95% confidence interval 3.1 to 21.9) relative to children with z score > -2. The results of this study suggest that socioeconomic and nutritional factors should be considered in the prognostic evaluation of children with leukaemia in developing countries. 相似文献
69.
HPLC测定益肤霜中红霉素和地塞米松的含量 总被引:5,自引:0,他引:5
采用HPLC测定益肤霜中红霉素和地塞米松的含量,控制制剂的质量。色谱条件:固定相为Kromasil C18柱;流动相为乙腈-0.2mol/L醋酸铵-水,流速0.8ml/min;检测波长215nm。以c对峰面积A作直线回归,红霉素在1.5-24g/L地塞米松在20-300mg/L的范围内,其浓度与峰面积呈直线关系。红霉素回收率为99.69%;地塞米松的回收率为100.28%。本法操作简便,结果准确, 相似文献
70.