全文获取类型
收费全文 | 771篇 |
免费 | 56篇 |
国内免费 | 2篇 |
专业分类
耳鼻咽喉 | 2篇 |
儿科学 | 29篇 |
妇产科学 | 8篇 |
基础医学 | 105篇 |
口腔科学 | 4篇 |
临床医学 | 108篇 |
内科学 | 188篇 |
皮肤病学 | 13篇 |
神经病学 | 100篇 |
特种医学 | 34篇 |
外科学 | 70篇 |
综合类 | 3篇 |
一般理论 | 2篇 |
预防医学 | 50篇 |
眼科学 | 10篇 |
药学 | 48篇 |
肿瘤学 | 55篇 |
出版年
2023年 | 9篇 |
2022年 | 6篇 |
2021年 | 25篇 |
2020年 | 26篇 |
2019年 | 28篇 |
2018年 | 19篇 |
2017年 | 13篇 |
2016年 | 33篇 |
2015年 | 24篇 |
2014年 | 32篇 |
2013年 | 33篇 |
2012年 | 60篇 |
2011年 | 64篇 |
2010年 | 42篇 |
2009年 | 38篇 |
2008年 | 48篇 |
2007年 | 68篇 |
2006年 | 38篇 |
2005年 | 51篇 |
2004年 | 46篇 |
2003年 | 35篇 |
2002年 | 44篇 |
2000年 | 2篇 |
1999年 | 8篇 |
1998年 | 6篇 |
1997年 | 4篇 |
1996年 | 4篇 |
1995年 | 2篇 |
1994年 | 2篇 |
1993年 | 4篇 |
1992年 | 3篇 |
1991年 | 2篇 |
1990年 | 1篇 |
1987年 | 2篇 |
1986年 | 2篇 |
1985年 | 2篇 |
1982年 | 1篇 |
1979年 | 1篇 |
1977年 | 1篇 |
排序方式: 共有829条查询结果,搜索用时 281 毫秒
821.
822.
823.
824.
825.
826.
Neeltje Margreth van der Lugt Marjolein J. A. Weerts Danielle C. M. Veenma Carsten R. Lincke Saskia J. Gischler Marielle Alders Yvette van Ierland 《American journal of medical genetics. Part A》2023,191(3):835-841
The key features of patients with a microduplication 5q35.2q35.3 (including the NSD1 gene) are short stature, microcephaly, mild developmental delay, behavioral problems, digital anomalies and congenital anomalies of internal organs. This core phenotype can be viewed as the reversed phenotype of Sotos syndrome, which is caused by a microdeletion in the same chromosomal region or a pathogenic variant in the NSD1 gene, and includes tall stature and macrocephaly, developmental delay, and epilepsy. Here, we report on a patient and his mother, both with a 5q35.2q35.3 duplication, adding a fifth family to the recently published overview of 39 patients of Quintero-Rivera et al. Our patient had several congenital anomalies, intrauterine growth restriction with a persisting short stature, while his mother was only mildly affected with decreased growth parameters. In addition, he had hemophagogocytic lymphohistiocytosis (HLH) triggered by Haemophilus influenzae and was recently diagnosed with Ewing sarcoma. Our cases carry the smallest duplication published (ca 332 kb, arr[hg19] 5q35.2q35.3(176493106-176824785)x3) further narrowing the distal side of the critical region of the 5q35.2q35.3 duplication. Besides broadening the clinical phenotypic spectrum, our report indicates that the 5q35.2q35.3 microduplication also shows a large intra-familial variability and expression. 相似文献
827.
828.
Philippe Colson Philippe Gautret Jeremy Delerce Hervé Chaudet Pierre Pontarotti Patrick Forterre Raphael Tola Marielle Bedotto Léa Delorme Wahiba Bader Anthony Levasseur Jean-Christophe Lagier Matthieu Million Nouara Yahi Jacques Fantini Bernard La Scola Pierre-Edouard Fournier Didier Raoult 《Journal of medical virology》2023,95(1):e28102
The nature and dynamics of mutations associated with the emergence, spread, and vanishing of SARS-CoV-2 variants causing successive waves are complex. We determined the kinetics of the most common French variant (“Marseille-4”) for 10 months since its onset in July 2020. Here, we analyzed and classified into subvariants and lineages 7453 genomes obtained by next-generation sequencing. We identified two subvariants, Marseille-4A, which contains 22 different lineages of at least 50 genomes, and Marseille-4B. Their average lifetime was 4.1 ± 1.4 months, during which 4.1 ± 2.6 mutations accumulated. Growth rate was 0.079 ± 0.045, varying from 0.010 to 0.173. Most of the lineages exhibited a bell-shaped distribution. Several beneficial mutations at unpredicted sites initiated a new outbreak, while the accumulation of other mutations resulted in more viral heterogenicity, increased diversity and vanishing of the lineages. Marseille-4B emerged when the other Marseille-4 lineages vanished. Its ORF8 gene was knocked out by a stop codon, as reported in SARS-CoV-2 of mink and in the Alpha variant. This subvariant was associated with increased hospitalization and death rates, suggesting that ORF8 is a nonvirulence gene. We speculate that the observed heterogenicity of a lineage may predict the end of the outbreak. 相似文献
829.
Thierry Rme Marielle Portier Florence Frayssinoux Bernard Combe Pierre Miossec Franois Favier Jacques Sany 《Arthritis \u0026amp; Rheumatology》1990,33(4):485-492
Two-color flow cytometry analysis of peripheral blood and synovial lymphocytes from rheumatoid arthritis patients was performed using monoclonal antibodies directed against T cell subsets, T cell activation markers, and T cell receptors. The results showed an abnormally high percentage (>15%) of CD3+, CD4−, and CD8− T cells expressing a specific receptor containing a γ chain. Phenotypic analysis of lymphocytes infiltrating both knee joints of individual rheumatoid arthritis patients revealed very similar subset distribution and activation levels, despite strong differences in the clinical status between the 2 sites. 相似文献