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Hoon-Chul Kang Ji Won Kwon Young Mock Lee Heung Dong Kim Hong Jin Lee Si Houn Hahn 《Child's nervous system》2007,23(11):1301-1307
OBJECTIVES: This study sought to characterize epileptic phenotypes in children with nonspecific mitochondrial disease (MD) and to evaluate MD diagnostic approaches. METHODS: A retrospective analysis of the medical, electroencephalogram, and laboratory records of 142 patients with epilepsy was performed. The patients were evaluated for MD, and 124 patients were included in the final cohort. The MD criteria used included an oral glucose lactate stimulation test (OGLST) and urine organic acid/plasma amino acid (UOA/PAA) assays as metabolic indicators of modified Walker criteria, as suggested by Bernier et al. (Neurology 59:1406-1411, 2002). RESULTS: Twenty-two patients were classified as having definite MD (9), probable MD (5), possible MD (6), or pyruvate dehydrogenase (PDH) deficiency (3), including one patient which showed a respiratory chain (RC) defect and PDH deficiency. Seven out of eight patients in whom significant RC defects were observed showed complex I defects. In 14 patients, epileptic seizures start at infantile ages. Of 17 patients who substantially presented generalized seizures, 4 patients started with partial seizures. Five patients consistently presented only partial seizures. The OGLST and UOA/PAA assays were useful for a more precise diagnosis of MD, although low positive predictive value of the OGLST was regrettable. No patient was classified as definite MD by Walker's original criteria, but the use of our revised MD criteria resulted in the classification of nine additional patients as definite MD. CONCLUSIONS: MD manifested considerable diverse epileptic phenotypes and should be considered in the differential diagnosis of epilepsy in children with unexplained encephalomyopathy and progressive and fluctuating clinical courses. 相似文献
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Hideaki Iwaki Kazuyoshi Johnin Susumu Kageyama Chul Jang Kim Takahiro Isono Tatsuhiro Yoshiki 《International journal of urology》2007,14(10):918-923
OBJECTIVES: Vesicoureteral reflux (VUR) is the most common congenital urinary tract anomaly. This disease can pose a major threat to the kidneys as twenty percent of patients with endstage renal disease are reported to have VUR. Although genetic studies for uroplakin III (UPIII) have been reported recently, no study has focused on UPIII gene expression in VUR patients. We describe here the up-regulation of UPIII mRNA in exfoliated urinary cells from primary VUR patients. METHODS: A real-time RT-PCR for UPIII mRNA was performed on exfoliated urothelial cells from 18 primary VUR and 38 control samples. UPIII mRNA copies were calculated for each sample. The statistical differences were assessed by the Mann-Whitney U test. Receiver operator characteristic curves were constructed for analysis of the diagnostic values. RESULTS: UPIII mRNA was found to be up-regulated to a greater extent in VUR than in control exfoliated urinary cells (mean +/- SE: 497.0 +/- 178.5 copies vs. 69.0 +/- 10.0 copies, respectively, P < 0.001). In evaluating the measurement of urinary UPIII mRNA as a screening test for VUR, the sensitivity was 77.8% and the specificity was 76.3% by the best diagnostic cutoff point. CONCLUSIONS: This is the first report demonstrating up-regulation of UPIII in mRNA levels in VUR patients. We submit that the quantitative measurement of urinary UPIII mRNA has a potential of developing into the first non-invasive screening test for VUR. 相似文献
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J. K. Kang Sang Won Lee Min Woo Baik Byung Chul Son Yong Kil Hong Chul Ku Jung Keon Hee Ryu 《Child's nervous system》1998,14(7):297-301
Accurate assessment and replacement of blood loss and fluid–electrolyte deficit during craniosynostosis repair is difficult
owing to patient size and the diversity of surgical technique. Forty-three patients undergoing primary craniosynostosis repair
over a 10-year period were studied retrospectively to determine blood loss and fluid deficit and to assess blood transfusion
practices during both intraoperative and postoperative periods. Blood loss was calculated on the basis of estimated red cell
mass (ERCM) and fluid-electrolyte imbalance was investigated with blood samplings. Blood transfusion was considered appropriate
if the postoperative or posttransfusion ERCM was within 12% of the preoperative value. Estimated fluid requirement (EFR) was
used in 4 ml kg–1 h–1 except for neonates. Intraoperatively, 80% of all patients were appropriately managed with respect to blood transfusion and
EFR. Postoperatively only 20% of the patients receiving transfusions were transfused appropriately. In 23.3% of these patients
(10/43) unexpected respiratory distress developed immediately after their recovery from the anesthesia. With the measurement
of estimated blood volume and allowable blood loss, appropriate transfusion could be achieved for the successful treatment
of the primary craniosynostosis.
Received: 16 February 1998 相似文献
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B Denise Raynor Elizabeth A Bonney Kyung T Jang Wendy Coto Meera S Garcia 《Hypertension in pregnancy》2004,23(2):129-134
Several parallels exist between preeclampsia and atherosclerosis. Both are multifactorial diseases that share risk factors such as obesity, insulin resistance, lipid abnormalities, and elevated serum homocysteine. There are also similarities in the biochemical changes seen in both diseases, including elevated serum triglycerides, decreased HDL cholesterol and enhanced formation of small, dense LDL particles as well as vascular atherosclerotic lesions. Chronic infection with Chlamydia pneumoniae has been linked to coronary artery disease. This study evaluated a possible link between the incidence of preeclampsia and infection with C. pneumoniae by examining the rate of seropositivity in 81 women with preeclampsia, and 206 women with normal pregnancies. Although our data confirmed well-known risk factors for preeclampsia such as obesity, diabetes, and hypertension, we found no difference in the rate of seropositivity between preeclampsia and normal pregnancy. On the contrary, the presence of chlamydial antibodies was lower in preeclampsia. Multiparous women with preeclampsia showed a significantly lower rate of seropositivity than multiparous normal women and nulliparous preeclamptics. In addition, women with a history of preeclampsia who developed preeclampsia in the current pregnancy also had a significantly lower rate of seropositivity. 相似文献