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DA O'Sullivan VE Torres PA Gabow SN Thibodeau BF King EJ Bergstralh 《American journal of kidney diseases》1998,32(6):976-983
Recent experiments in cultured cyst epithelial cells from kidneys of patients with autosomal dominant polycystic kidney disease (ADPKD) have shown that the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is present in the apical surface of these cells and mediates chloride (Cl-) and fluid secretion in vitro. To determine whether the presence of CF with the expression of mutated CFTR proteins modifies cyst formation in ADPKD, we studied a large family with both inherited diseases. ADPKD in this family is linked to PKD1. The family is composed of 26 members; 11 members with ADPKD, 4 members with CF, and 2 members with both diseases. Renal volumes measured by computerized tomography (CT), calculated creatinine clearances, and other clinical parameters in the family members with ADPKD and CF were compared with those in the family members with ADPKD alone, as well as to a large population of patients with ADPKD. The patients with CF and ADPKD, but not the CF heterozygote carriers with ADPKD, had less severe polycystic kidney and liver disease, as indicated by normal renal function; smaller renal volume, even when corrected for height and body surface area; and the absence of hypertension and liver cysts. These observations suggest that the coexistence of CF may reduce the severity of ADPKD. 相似文献
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Accuracy of computed tomography to predict extracapsular spread in p16‐positive squamous cell carcinoma 下载免费PDF全文
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Misun Hwang Ryan Marovich Samuel S.Shin David Chi Barton F.Branstetter IV 《中华耳科学杂志(英文版)》2015,(1):13-17
Enlarged vestibular aqueduct(EVA), the most frequent identifiable cause of congenital hearing loss, is evaluated with high-definition multidetector CT in the axial plane. Our purpose was to determine which reformatted CT measurements are most reproducible. Seven multiplanar reformatted images were created for each of the 64 temporal bones in patients with EVA. Intraclass correlation coefficients(ICC) were used to assess inter-observer variability, and both linear regression and ROC analyses were used to compare the measurements with severity of hearing loss, as assessed by pure tone audiometry. All seven measurements had excellent inter-observer variability, with average-measure ICC ranging from 0.92 to 0.98. There was no statistically significant correlation between the radiologic degree of aqueduct enlargement and severity of hearing loss using any of the seven measurements; ROC analyses revealed areas under the curves ranging from 0.57 to 0.73. Optimal accuracy was obtained with a threshold of 1.75 mm as measured at the aqueductal aperture in the P€oschl plane, with sensitivity of 0.75 and specificity of0.63. Although the radiologic measurement may not serve as a reliable tool for assessing severity of EVA, P€oschl plane reformatting has proven to be better than conventional axial acquisition plane for identifying patients with clinically significant hearing loss. 相似文献
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Human erythrocyte antigens: II. The In(Lu) gene regulates expression of an antigen on an 80-kilodalton protein of human erythrocytes 总被引:3,自引:0,他引:3
We have previously shown that a murine monoclonal antibody (A3D8) identifies a human erythrocyte protein antigen whose expression is regulated by the Lutheran inhibitor [In(Lu)] gene. In the present study, we demonstrated by immunoprecipitation and Western blot techniques that the antigen defined by A3D8 was on an 80-kD erythrocyte membrane protein. A second 170-kD protein was coprecipitated with the 80-kD protein but failed to show antigen activity by Western blot analysis. The 170-kD protein, when analyzed by sodium dodecyl sulfate- polyacrylamide gel electrophoresis in two dimensions, was composed of 50- and 30-kD disulfide-linked subunits. In(Lu) Lu[a-b-) erythrocytes differed from Lu(a+b+) or Lu(a-b+) erythrocytes in that In(Lu) deoxycholate erythrocyte membrane extracts contained trace amounts of immunoprecipitable 80-kD protein compared with detergent-solubilized erythrocyte membrane extracts prepared from Lu(a+b+) or Lu(a-b+) subjects. 相似文献
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We present an unusual case of a complete first branchial cleft fistula communicating between the external auditory canal and the skin near the angle of the mandible. CT and fluoroscopic fistulography were used to establish the presence and course of the tract and to assist in surgical planning. The embryology and classification of first branchial cleft anomalies are discussed, with emphasis on the impact of imaging. 相似文献
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Heyerdahl S, Kase BF, Stake G. Skeletal maturation during thyroxine treatment in children with congenital hypothyroidism. Acta Prediatr 1994;83:618–22. Stockholm. ISSN 0803–5253
The aim of this investigation was to study if bone age development (assessed by the Greulich & Pyle atlas) was related to L-thyroxine treatment in 47 children with congenital hypothyroidism, treated early and according to general recommendations. In spite of frequent delay in skeletal maturation at diagnosis, the delay in mean bone age at a mean chronological age of 1.5 years was slight (0.5 months), and 30% of the variation in bone age SD score (SDS) at 1.5 years was accounted for by the dose of L-thyroxine and serum thyroxine during the first year. The children with a bone age within ± 1 SDS had a prescribed mean dose of L-thyroxine per kg body weight from 3 to 12 months of age of 5.4 ± 1.7 pg/kg/day, and their mean serum thyroxine concentration during the first year was 175 ± 29 nmol/l. We conclude that bone age at 1.5 years of age was positively correlated with the dose of L-thyroxine and the serum thyroxine concentration during the first year. This supports the general use of bone age assessments as a complement to other treatment variables in the follow-up of children with congenital hypothyroidism. 相似文献
The aim of this investigation was to study if bone age development (assessed by the Greulich & Pyle atlas) was related to L-thyroxine treatment in 47 children with congenital hypothyroidism, treated early and according to general recommendations. In spite of frequent delay in skeletal maturation at diagnosis, the delay in mean bone age at a mean chronological age of 1.5 years was slight (0.5 months), and 30% of the variation in bone age SD score (SDS) at 1.5 years was accounted for by the dose of L-thyroxine and serum thyroxine during the first year. The children with a bone age within ± 1 SDS had a prescribed mean dose of L-thyroxine per kg body weight from 3 to 12 months of age of 5.4 ± 1.7 pg/kg/day, and their mean serum thyroxine concentration during the first year was 175 ± 29 nmol/l. We conclude that bone age at 1.5 years of age was positively correlated with the dose of L-thyroxine and the serum thyroxine concentration during the first year. This supports the general use of bone age assessments as a complement to other treatment variables in the follow-up of children with congenital hypothyroidism. 相似文献
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