全文获取类型
收费全文 | 4440篇 |
免费 | 210篇 |
国内免费 | 195篇 |
专业分类
耳鼻咽喉 | 148篇 |
儿科学 | 207篇 |
妇产科学 | 80篇 |
基础医学 | 922篇 |
口腔科学 | 46篇 |
临床医学 | 314篇 |
内科学 | 796篇 |
皮肤病学 | 183篇 |
神经病学 | 332篇 |
特种医学 | 72篇 |
外科学 | 230篇 |
综合类 | 503篇 |
预防医学 | 234篇 |
眼科学 | 88篇 |
药学 | 162篇 |
中国医学 | 8篇 |
肿瘤学 | 520篇 |
出版年
2023年 | 30篇 |
2022年 | 80篇 |
2021年 | 110篇 |
2020年 | 102篇 |
2019年 | 90篇 |
2018年 | 99篇 |
2017年 | 101篇 |
2016年 | 125篇 |
2015年 | 126篇 |
2014年 | 273篇 |
2013年 | 276篇 |
2012年 | 260篇 |
2011年 | 316篇 |
2010年 | 287篇 |
2009年 | 270篇 |
2008年 | 299篇 |
2007年 | 291篇 |
2006年 | 287篇 |
2005年 | 275篇 |
2004年 | 168篇 |
2003年 | 155篇 |
2002年 | 119篇 |
2001年 | 114篇 |
2000年 | 114篇 |
1999年 | 104篇 |
1998年 | 74篇 |
1997年 | 61篇 |
1996年 | 35篇 |
1995年 | 44篇 |
1994年 | 43篇 |
1993年 | 33篇 |
1992年 | 22篇 |
1991年 | 11篇 |
1990年 | 9篇 |
1989年 | 10篇 |
1988年 | 3篇 |
1987年 | 3篇 |
1985年 | 5篇 |
1984年 | 1篇 |
1982年 | 1篇 |
1981年 | 2篇 |
1980年 | 6篇 |
1979年 | 1篇 |
1978年 | 2篇 |
1977年 | 1篇 |
1976年 | 1篇 |
1971年 | 1篇 |
1968年 | 1篇 |
1967年 | 2篇 |
1906年 | 1篇 |
排序方式: 共有4845条查询结果,搜索用时 0 毫秒
21.
Leone PE Vega ME Jervis P Pestaña A Alonso J Paz-y-Miño C 《Journal of human genetics》2003,48(12):639-641
RB1 is the gene responsible for retinoblastoma, the most common malignant intraocular tumor of infancy and early childhood. There are no reports about this gene in Ecuadorian populations, and only a few studies have been published in Latin America about this subject. There is a spectrum of more than 370 mutations described in the RB1 gene mutation database (http://www.d-lohmann.de/Rb/mutations.html), and alterations have been found in 25 of the 27 exons. During the exon-by-exon analysis of 31 tumor and blood samples from Ecuadorian patients, we found two new mutations and three novel polymorphisms. One of the polymorphisms is located in intron 26 where no alterations of the gene have been described previously. The polymorphisms were found in all of the patients tumor samples, but not in normal population, suggesting there might be a relationship between these polymorphisms and the development of retinoblastoma in the Ecuadorian population.The nucleotide sequence data reported are available in the GenBank database under the accession numbers: AY243567, AY260472, AY260473, AY273783 相似文献
22.
It has been proposed that the structure of the exons that encode the triple helical domain of the fibrillar collagen genes arose by repeated tandem duplication of an ancestral unit exon. Because these exons encode a repeat motif [(Gly-X-Y)n], sequence homology between exons may have driven the recombinational process. We have characterized a tandem duplication mutation within a COL1A1 allele of type I collagen from an infant with the lethal form of osteogenesis imperfecta. The structure of the mutation is consistent with the occurrence of an unequal crossover within a 15 base pair region of sequence identity between exons 14 and 17 of the COL1A1 gene. The recombination produced a new 81 base pair 17/14 hybrid exon and complete duplication of exons 15 and 16. The sequence implies duplication of 60 amino acid residues within the triple helical domain with preservation of the Gly-X-Y repeat. These data suggest that a recombinational mechanism that explains the hypothetical evolutionary process is active in cells, but the lethal effect of this mutation raises questions about the role of these events in creating new structures for polymeric proteins. © 1993 Wiley-Liss, Inc. 相似文献
23.
24.
青岛大学附属烟台毓璜顶医院生殖医学中心对1例反复体外受精/卵细胞质内单精子注射(IVF/ICSI)助孕后早期胚胎发育停滞的患者进行了全外显子基因检测,发现了一种新的TUBB8基因突变型(c.208C>T/p.Pro70Ser),并进一步探讨了TUBB8基因突变与早期胚胎发育停滞之间的联系,为反复种植失败的诊断与治疗提供更多可能性。 相似文献
25.
L. Samuel Hellgren Martin Hysek Kenbugul Jatta Jan Zedenius C. Christofer Juhlin 《Head and neck pathology》2021,15(2):668
Benign thyroid lesions such as multinodular goiter and adenomatoid nodules are well-circumscribed lesions displaying a macrofollicular growth pattern and lack of nuclear atypia. The highly unusual macrofollicular variant of follicular thyroid carcinoma (MV-FTC) mirrors these attributes and is thereby misclassified by cytological examination of fine-needle aspiration biopsies. The MV-FTC diagnosis is instead suggested following histological investigation, in which malignant attributes, most commonly capsular invasion, are noted. The bulk of MV-FTCs described in the literature arise in younger female patients and carry an excellent prognosis. A recent coupling to mutations in the DICER1 tumor suppressor gene has been proposed, possibly indicating aberrancies in micro-RNA (miRNA) patterns as responsible of the tumorigenic process. We describe the cytological, histological and molecular phenotype of a 35 mm large MV-FTC arising in the right thyroid lobe of a 33-year-old female with a family history of multinodular goiter. The tumor was encapsulated and strikingly inconspicuous in terms of cellularity and atypia, but nevertheless displayed multiple foci with capsular invasion. A next-generation molecular screening of tumor DNA revealed missense variants in DICER1 (p. D1709N) and MET (p. T1010I), but no established fusion gene events. After sequencing of germline DNA, the DICER1 mutation was confirmed as somatic, while the MET variant was constitutional. The patient is alive and well, currently awaiting radioiodine treatment. This MV-FTC mirrors previous publications, suggesting that these tumors carry a favorable prognosis and predominantly arise in younger females. Moreover, DICER1 mutations should be considered a common driver event in the development of MV-FTCs. 相似文献
26.
重组HBsAg免疫逃逸突变体的表达及其抗原性分析 总被引:3,自引:1,他引:3
为了深入研究乙型肝炎病毒S基因变异所致的包膜抗原抗原性的改变,从含HBVDNA双拷贝的质粒载体pEcob6,获得一个837bp的HBV-S基因片段,将其插入至载体pBluescript KS~+的SmaⅠ位点,通过体外寡核苷酸介导的人工定点突变分别获得第145位、126位和第145位+126位氨基酸三种S基因变异型。然后将这些S基因变异片段克隆到真核表达载体pMEp4上,从而构建了含HBV-S基因及其突变型的表达载体PMEp4HBVSM。用其转染人肝癌细胞系HepG2,获得稳定分泌HBsAg及其变异体的抗性细胞系。经体外初步研究表明,HBsAg 145位氨基酸变异体可影响HBsAg的“a”抗原决定簇的结构。 相似文献
27.
Takahashi S Okada K Nagasawa H Shimada Y Sakamoto H Itoi E 《Virchows Archiv : an international journal of pathology》2004,444(5):454-458
We describe a case history of a 24-year-old male with osteogenesis imperfecta (OI) who developed osteosarcoma of the left thigh. High-dose ifosfamide therapy caused marked tumor regression of multiple lung metastases. Immunohistochemically, the tumor cells were diffusely positive for the p53 protein. Mutation of the p53 gene was not detected by direct genomic sequencing of exons 4–8. The radiographic characteristics, including irregularly distributed osteolytic lesions and cortical discontinuity, should not be confused with hyperplastic callus formation, a benign process. A biopsy is critical to establish the differential diagnosis between osteosarcoma and common hyperplastic callus formation in OI; however, it must be applied with great care. 相似文献
28.
29.
30.