全文获取类型
收费全文 | 20575篇 |
免费 | 1411篇 |
国内免费 | 77篇 |
专业分类
耳鼻咽喉 | 144篇 |
儿科学 | 657篇 |
妇产科学 | 496篇 |
基础医学 | 3271篇 |
口腔科学 | 395篇 |
临床医学 | 2023篇 |
内科学 | 3992篇 |
皮肤病学 | 458篇 |
神经病学 | 2236篇 |
特种医学 | 513篇 |
外科学 | 1901篇 |
综合类 | 115篇 |
一般理论 | 27篇 |
预防医学 | 2155篇 |
眼科学 | 367篇 |
药学 | 1231篇 |
中国医学 | 38篇 |
肿瘤学 | 2044篇 |
出版年
2023年 | 174篇 |
2022年 | 126篇 |
2021年 | 478篇 |
2020年 | 416篇 |
2019年 | 595篇 |
2018年 | 676篇 |
2017年 | 529篇 |
2016年 | 602篇 |
2015年 | 686篇 |
2014年 | 836篇 |
2013年 | 1178篇 |
2012年 | 1675篇 |
2011年 | 1658篇 |
2010年 | 941篇 |
2009年 | 834篇 |
2008年 | 1478篇 |
2007年 | 1411篇 |
2006年 | 1283篇 |
2005年 | 1238篇 |
2004年 | 1086篇 |
2003年 | 1110篇 |
2002年 | 965篇 |
2001年 | 132篇 |
2000年 | 81篇 |
1999年 | 108篇 |
1998年 | 143篇 |
1997年 | 118篇 |
1996年 | 88篇 |
1995年 | 121篇 |
1994年 | 101篇 |
1993年 | 100篇 |
1992年 | 55篇 |
1991年 | 66篇 |
1990年 | 49篇 |
1989年 | 46篇 |
1988年 | 26篇 |
1987年 | 43篇 |
1986年 | 44篇 |
1985年 | 53篇 |
1984年 | 54篇 |
1983年 | 45篇 |
1982年 | 70篇 |
1981年 | 51篇 |
1980年 | 45篇 |
1979年 | 37篇 |
1978年 | 34篇 |
1976年 | 30篇 |
1975年 | 26篇 |
1974年 | 33篇 |
1973年 | 28篇 |
排序方式: 共有10000条查询结果,搜索用时 15 毫秒
1.
Silvia Radenkovic Diego Martinelli Yuebo Zhang Graeme J. Preston Arianna Maiorana Alessandra Terracciano Maria Lisa Dentici Elisa Pisaneschi Antonio Novelli Wasantha Ranatunga Anna N. Ligezka Bart Ghesquière David R. Deyle Tamas Kozicz Filippo Pinto e Vairo Peter Witters Eva Morava 《Genetics in medicine》2022,24(4):894-904
PurposeTRAPPC9 deficiency is an autosomal recessive disorder mainly associated with intellectual disability (ID), microcephaly, and obesity. Previously, TRAPPC9 deficiency has not been associated with biochemical abnormalities.MethodsExome sequencing was performed in 3 individuals with ID and dysmorphic features. N-Glycosylation analyses were performed in the patients’ blood samples to test for possible congenital disorder of glycosylation (CDG). TRAPPC9 gene, TRAPPC9 protein expression, and N-glycosylation markers were assessed in patient fibroblasts. Complementation with wild-type TRAPPC9 and immunofluorescence studies to assess TRAPPC9 expression and localization were performed. The metabolic consequences of TRAPPC9 deficiency were evaluated using tracer metabolomics.ResultsAll 3 patients carried biallelic missense variants in TRAPPC9 and presented with an N-glycosylation defect in blood, consistent with CDG type I. Extensive investigations in patient fibroblasts corroborated TRAPPC9 deficiency and an N-glycosylation defect. Tracer metabolomics revealed global metabolic changes with several affected glycosylation-related metabolites.ConclusionWe identified 3 TRAPPC9 deficient patients presenting with ID, dysmorphic features, and abnormal glycosylation. On the basis of our findings, we propose that TRAPPC9 deficiency could lead to a CDG (TRAPPC9-CDG). The finding of abnormal glycosylation in these patients is highly relevant for diagnosis, further elucidation of the pathophysiology, and management of the disease. 相似文献
2.
3.
4.
5.
6.
Staedt Henning Mally Eva Scheller Herbert Wentaschek Stefan Kämmerer Peer Wolfgang Kasaj Adrian Devigus Alessandro Lehmann Karl Martin 《Clinical oral investigations》2021,25(1):145-150
Clinical Oral Investigations - This study evaluated the reproducibility of electronic color determination system evaluations of the marginal gingiva, which could be important for adhesive cervical... 相似文献
7.
Gretl Hendrickx Verena Fischer Astrid Liedert Simon von Kroge Melanie Haffner-Luntzer Laura Brylka Eva Pawlus Michaela Schweizer Timur Yorgan Anke Baranowsky Tim Rolvien Mona Neven Udo Schumacher David J Beech Michael Amling Anita Ignatius Thorsten Schinke 《Journal of bone and mineral research》2021,36(2):369-384
8.
9.
10.
Amy Body Hans Prenen Marissa Lam Amy Davies Samuel Tipping-Smith Caroline Lum Elizabeth Liow Eva Segelov 《Clinical colorectal cancer》2021,20(1):29-41
Locally advanced rectal cancer has a rising global incidence. Over the last 4 decades, advances first in surgery and later in radiotherapy and chemoradiotherapy have improved outcomes, particularly with regard to local recurrence. Unfortunately, distant metastases remain a significant problem. In clinical trials of patients with stage II and III disease, distant relapse occurs in 25% to 30% of patients regardless of the treatment approach. Recent phase 3 trials have therefore focused on intensification of systemic therapy for localized disease, with an aim of reducing the distant relapse rate. Early results of trials of total neoadjuvant therapy with combination systemic therapy provided in the neoadjuvant setting are promising; for the first time, a significant improvement in the rate of distant relapse has been noted. Longer-term follow-up is eagerly awaited. On the other hand, trimodal therapy with chemotherapy, radiotherapy, and surgery is toxic. Several trials are currently assessing the feasibility of a watch-and-wait approach, omitting surgery in those with complete response to neoadjuvant treatment, in an attempt to reduce the burden of treatment on patients. The future for rectal cancer patients is likely to be highly personalized, with more intense approaches for high-risk patients and omission of unnecessary therapy for those whose disease responds well to initial treatment. Biomarkers such as circulating tumor DNA will help to more accurately stratify patients into risk groups. Improvements in survival and quality of life are expected as the results of ongoing research become available throughout the next decade. 相似文献