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排序方式: 共有865条查询结果,搜索用时 31 毫秒
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Hanfei Xu Karen Schwander Michael R. Brown Wenyi Wang R. J. Waken Eric Boerwinkle L. Adrienne Cupples Lisa de las Fuentes Diana van Heemst Oyomoare Osazuwa-Peters Paul S. de Vries Ko Willems van Dijk Yun Ju Sung Xiaoyu Zhang Alanna C. Morrison D. C. Rao Raymond Noordam Ching-Ti Liu 《European journal of human genetics : EJHG》2021,29(5):839
Recent studies consider lifestyle risk score (LRS), an aggregation of multiple lifestyle exposures, in identifying association of gene-lifestyle interaction with disease traits. However, not all cohorts have data on all lifestyle factors, leading to increased heterogeneity in the environmental exposure in collaborative meta-analyses. We compared and evaluated four approaches (Naïve, Safe, Complete and Moderator Approaches) to handle the missingness in LRS-stratified meta-analyses under various scenarios. Compared to “benchmark” results with all lifestyle factors available for all cohorts, the Complete Approach, which included only cohorts with all lifestyle components, was underpowered due to lower sample size, and the Naïve Approach, which utilized all available data and ignored the missingness, was slightly inflated. The Safe Approach, which used all data in LRS-exposed group and only included cohorts with all lifestyle factors available in the LRS-unexposed group, and the Moderator Approach, which handled missingness via moderator meta-regression, were both slightly conservative and yielded almost identical p values. We also evaluated the performance of the Safe Approach under different scenarios. We observed that the larger the proportion of cohorts without missingness included, the more accurate the results compared to “benchmark” results. In conclusion, we generally recommend the Safe Approach, a straightforward and non-inflated approach, to handle heterogeneity among cohorts in the LRS based genome-wide interaction meta-analyses.Subject terms: Genetics, Risk factors 相似文献
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Alanna M. Kongkriangkai Christopher King Lisa J. Martin Emily Wakefield Carlos E. Prada Geraldine Kelly‐Mancuso Elizabeth K. Schorry 《American journal of medical genetics. Part A》2019,179(4):602-607
Tumor growths, migraine headaches, and other health‐related complications reported in patients with neurofibromatosis type 1 (NF1) are often associated with pain. Thus, this study sought to describe and quantify the pain experience in children and young adults with NF1. Surveys were administered to 49 participants (28 children and 21 adults), ages 8 through 40 years. The survey included the Numeric Rating Scale 11 (NRS11) to assess pain intensity and the Patient Reported Outcomes Measurement Information System (PROMIS) to assess pain interference. A supplemental survey was created to measure pain frequency, chronicity, quality, and location. Results suggest pain is not only present in 55% of the cohort, but that it can begin at early ages. Pain was chronic in 35% of participants, with 41% reporting the use of medication to manage pain symptoms. Common sources of pain included migraine headaches and NF‐related tumors. Pain was described as having neuropathic features (i.e., burning, tingling, numbness, or itching), and was localized to the head, back, and extremities. Further, subsets of participants reported moderate‐to‐severe pain intensity, high frequency of pain, and interference of pain in daily activities. Continued investigation of the pain experience in a multisystem disorder, such as NF1, remains essential to providing guidance in the setting of complex pain management. 相似文献
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Amyn A. Malik Neel R. Gandhi Timothy L. Lash Lisa M. Cranmer Saad B. Omer Junaid F. Ahmed Sara Siddiqui Farhana Amanullah Aamir J. Khan Salmaan Keshavjee Hamidah Hussain Mercedes C. Becerra 《Emerging infectious diseases》2021,27(3):805
In Karachi, Pakistan, a South Asian megacity with a high prevalence of tuberculosis (TB) and low HIV prevalence, we assessed the effectiveness of fluoroquinolone-based preventive therapy for drug-resistant (DR) TB exposure. During February 2016–March 2017, high-risk household contacts of DR TB patients began a 6-month course of preventive therapy with a fluoroquinolone-based, 2-drug regimen. We assessed effectiveness in this cohort by comparing the rate and risk for TB disease over 2 years to the rates and risks reported in the literature. Of 172 participants, TB occurred in 2 persons over 336 person-years of observation. TB disease incidence rate observed in the cohort was 6.0/1,000 person-years. The incidence rate ratio ranged from 0.29 (95% CI 0.04–1.3) to 0.50 (95% CI 0.06–2.8), with a pooled estimate of 0.35 (95% CI 0.14–0.87). Overall, fluoroquinolone-based preventive therapy for DR TB exposure reduced risk for TB disease by 65%. 相似文献
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Junaid MA Sklower Brooks S Wisniewski KE Pullarkat RK 《Clinica chimica acta; international journal of clinical chemistry》1999,281(1-2):169-176
A highly sensitive assay for mammalian lysosomal pepstatin-insensitive proteinase (LPIP) is described using a synthetic peptide substrate coupled to aminotrifluoromethyl coumarin (AFC). LPIP is an endocarboxyl proteinase which has specific sequence requirements of Phe-Phe around the carboxyl terminal. This HPLC based assay can detect patients suffering from late-infantile neuronal ceroid lipofuscinosis (LINCL) and also heterozygote carriers in cultured lymphoid cells and skin fibroblasts. None of the patients analyzed had detectable enzyme activity confirming the defective gene product, while carriers had about 50% activity when compared with the normal controls. Neurological controls comprised of patients with other neurodegenerative disorders have LPIP activities similar to normal controls. LPIP activity is also detectable in amniocytes and chorionic villi. Thus the assay reported can also be used for prenatal diagnosis of LINCL. 相似文献
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Expression of endocrine gland-derived vascular endothelial growth factor in ovarian carcinoma. 总被引:10,自引:0,他引:10
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PB Shetty H Tang BO Tayo AC Morrison CL Hanis DC Rao JH Young ER Fox E Boerwinkle RS Cooper NJ Risch X Zhu;the Candidate Gene Association Resource 《Journal of hypertension》2012,30(10):1970-1976
OBJECTIVE:: Genetic variants in 296 genes in regions identified through admixture mapping of hypertension, BMI, and lipids were assessed for association with hypertension, blood pressure (BP), BMI, and high-density lipoprotein cholesterol (HDL-C). METHODS:: This study identified coding SNPs identified from HapMap2 data that were located in genes on chromosomes 5, 6, 8, and 21, wherein ancestry association evidence for hypertension, BMI, or HDL-C was identified in previous admixture mapping studies. Genotyping was performed in 1733 unrelated African-Americans from the National Heart, Lung and Blood Institute's Family Blood Pressure Project, and gene-based association analyses were conducted for hypertension, SBP, DBP, BMI, and HDL-C. A gene score based on the number of minor alleles of each SNP in a gene was created and used for gene-based regression analyses, adjusting for age, age, sex, local marker ancestry, and BMI, as applicable. An individual's African ancestry estimated from 2507 ancestry-informative markers was also adjusted for to eliminate any confounding due to population stratification. RESULTS:: CXADR (rs437470) on chromosome 21 was associated with SBP and DBP with or without adjusting for local ancestry (P?0.0006). F2RL1 (rs631465) on chromosome 5 was associated with BMI (P?=?0.0005). Local ancestry in these regions was associated with the respective traits as well. CONCLUSION:: This study suggests that CXADR and F2RL1 likely play important roles in BP and obesity variation, respectively; and these findings are consistent with those of other studies, so replication and functional analyses are necessary. 相似文献
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Rebecca L. Johnson Matthew P. Abdel Ryan D. Frank Alanna M. Chamberlain Elizabeth B. Habermann Carlos B. Mantilla 《The Journal of arthroplasty》2019,34(1):56-64.e5