全文获取类型
收费全文 | 454篇 |
免费 | 17篇 |
国内免费 | 1篇 |
专业分类
耳鼻咽喉 | 3篇 |
儿科学 | 14篇 |
妇产科学 | 13篇 |
基础医学 | 74篇 |
口腔科学 | 11篇 |
临床医学 | 29篇 |
内科学 | 87篇 |
皮肤病学 | 3篇 |
神经病学 | 46篇 |
特种医学 | 29篇 |
外科学 | 51篇 |
综合类 | 2篇 |
预防医学 | 30篇 |
眼科学 | 2篇 |
药学 | 34篇 |
肿瘤学 | 44篇 |
出版年
2023年 | 5篇 |
2022年 | 5篇 |
2021年 | 11篇 |
2020年 | 7篇 |
2019年 | 13篇 |
2018年 | 11篇 |
2017年 | 5篇 |
2016年 | 7篇 |
2015年 | 12篇 |
2014年 | 14篇 |
2013年 | 21篇 |
2012年 | 28篇 |
2011年 | 25篇 |
2010年 | 9篇 |
2009年 | 9篇 |
2008年 | 20篇 |
2007年 | 19篇 |
2006年 | 20篇 |
2005年 | 16篇 |
2004年 | 20篇 |
2003年 | 16篇 |
2002年 | 13篇 |
2001年 | 10篇 |
2000年 | 9篇 |
1999年 | 16篇 |
1998年 | 4篇 |
1997年 | 2篇 |
1996年 | 10篇 |
1995年 | 7篇 |
1994年 | 2篇 |
1993年 | 4篇 |
1992年 | 11篇 |
1991年 | 9篇 |
1990年 | 14篇 |
1989年 | 8篇 |
1988年 | 10篇 |
1987年 | 11篇 |
1986年 | 4篇 |
1984年 | 3篇 |
1983年 | 4篇 |
1979年 | 4篇 |
1978年 | 3篇 |
1977年 | 2篇 |
1976年 | 4篇 |
1968年 | 3篇 |
1966年 | 1篇 |
1960年 | 1篇 |
1958年 | 1篇 |
1945年 | 1篇 |
1944年 | 2篇 |
排序方式: 共有472条查询结果,搜索用时 0 毫秒
471.
Marcello Niceta Simone Pizzi Francesca Inzana Angela Peron Somayeh Bakhtiari Mathilde Nizon Jonathan Levy Cecilia Mancini Benjamin Cogné Francesca Clementina Radio Emanuele Agolini Dario Cocciadiferro Antonio Novelli Mustafa A. Salih Maria Paola Recalcati Rosangela Arancio Marianne Besnard Anne-Claude Tabet Michael C. Kruer Manuela Priolo Bruno Dallapiccola Marco Tartaglia 《Clinical genetics》2023,103(2):156-166
CNOT2 haploinsufficiency underlies a rare neurodevelopmental disorder named Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). The condition clinically overlaps with chromosome 12q15 deletion syndrome, suggesting a major contribution of CNOT2 haploinsufficiency to the latter. CNOT2 is a member of the CCR4-NOT complex, which is a master regulator of multiple cellular processes, including gene expression, RNA deadenylation, and protein ubiquitination. To date, less than 20 pathogenic 12q15 microdeletions encompassing CNOT2, together with a single truncating variant of the gene, and two large intragenic deletions have been reported. Due to the small number of affected subjects described so far, the clinical profile of IDNADFS has not been fully delineated. Here we report five unrelated individuals, three of which carrying de novo intragenic CNOT2 variants, one presenting with a multiexon intragenic deletion, and an additional case of 12q15 microdeletion syndrome. Finally, we assess the features of IDNADFS by reviewing published and present affected individuals and reevaluate the clinical phenotype of this neurodevelopmental disorder. 相似文献
472.
Martin A. Isturiz Maria M. De E. De Bracco Ana M. Pizzi Jorge A. Manni 《Arthritis \u0026amp; Rheumatology》1976,19(4):725-730
Reduced antibody-dependent cell-mediated cytotoxicity (ADCC) was demonstrated in lymphocytes of patients with rheumatoid arthritis (RA). Rheumatoid factor (RF) positive sera inhibited ADCC of normal lymphocytes by reacting both with effector and target cells (sensitized chicken red blood cells). These sera were fractionated by specific adsorption or gradient ultracentrifugation, and isolated RF or RF negative fractions were tested for their ability to inhibit ADCC by reacting with normal human lymphocytes or target cells. RF was ineffective on normal lymphocytes but it strongly inhibited the reaction by interaction with target cells. IgG RF negative fractions of certain sera were inhibitory by direct interaction with effector cells. 相似文献