全文获取类型
收费全文 | 737篇 |
免费 | 38篇 |
国内免费 | 6篇 |
专业分类
耳鼻咽喉 | 7篇 |
儿科学 | 23篇 |
妇产科学 | 13篇 |
基础医学 | 100篇 |
口腔科学 | 30篇 |
临床医学 | 60篇 |
内科学 | 192篇 |
皮肤病学 | 7篇 |
神经病学 | 60篇 |
特种医学 | 14篇 |
外科学 | 59篇 |
综合类 | 1篇 |
预防医学 | 126篇 |
眼科学 | 7篇 |
药学 | 37篇 |
中国医学 | 7篇 |
肿瘤学 | 38篇 |
出版年
2023年 | 14篇 |
2022年 | 28篇 |
2021年 | 30篇 |
2020年 | 24篇 |
2019年 | 30篇 |
2018年 | 26篇 |
2017年 | 16篇 |
2016年 | 22篇 |
2015年 | 21篇 |
2014年 | 31篇 |
2013年 | 44篇 |
2012年 | 74篇 |
2011年 | 76篇 |
2010年 | 34篇 |
2009年 | 25篇 |
2008年 | 53篇 |
2007年 | 51篇 |
2006年 | 47篇 |
2005年 | 37篇 |
2004年 | 29篇 |
2003年 | 26篇 |
2002年 | 21篇 |
2001年 | 1篇 |
2000年 | 1篇 |
1999年 | 1篇 |
1998年 | 1篇 |
1997年 | 3篇 |
1994年 | 3篇 |
1993年 | 1篇 |
1991年 | 1篇 |
1984年 | 2篇 |
1982年 | 1篇 |
1981年 | 1篇 |
1978年 | 1篇 |
1976年 | 1篇 |
1974年 | 2篇 |
1973年 | 2篇 |
排序方式: 共有781条查询结果,搜索用时 28 毫秒
51.
52.
Jian-Min Chen Emmanuelle Masson Milan Macek Odile Raguénès Tereza Piskackova Brigitte Fercot Libor Fila David N Cooper Marie-Pierre Audrézet Claude Férec 《Journal of cystic fibrosis》2008,7(1):37-43
BACKGROUND: LINE-1 (long interspersed element-1) or L1-mediated retrotransposition is a potent force in human genome evolution and an occasional cause of human genetic disease. Since the first report of two de novo L1 insertions in the F8 gene causing hemophilia A, more than 50 L1-mediated retrotranspositional events have been identified as causing human genetic disease. However, a significant bias has generally militated against the detection of these pathological events at autosomal loci. Based upon this and other observations, we surmised that some previously unresolved cystic fibrosis chromosomes might carry hitherto undetected L1-mediated retrotranspositional insertions at the CFTR locus. This study represents an attempt to identify such mutational events. METHODS: 100 previously unresolved cystic fibrosis chromosomes were carefully reanalyzed using quantitative high-performance liquid chromatography (QHPLC). RESULTS: Two simple Alu insertions were identified in the CFTR gene, within exons 16 and 17b respectively. CONCLUSIONS: Our findings have not only revealed a previously unknown mutational mechanism responsible for cystic fibrosis but also represent an important addition to the already diverse spectrum of known CFTR gene mutations. Experience with the CFTR gene suggests that pathological L1-mediated retrotranspositional events may also have been overlooked at other gene loci and should always be considered in cases that appear to be refractory to analysis. 相似文献
53.
Quantitative chest CT for subtyping chronic lung allograft dysfunction and its association with survival 下载免费PDF全文
Miho Horie Pascal Salazar Tomohito Saito Matthew Binnie Kristy Brock Kazuhiro Yasufuku Sassan Azad Shaf Keshavjee Tereza Martinu Narinder Paul 《Clinical transplantation》2018,32(5)
Chronic lung allograft dysfunction (CLAD) is a major cause of mortality in lung transplant recipients. CLAD can be sub‐divided into at least 2 subtypes with distinct mortality risk characteristics: restrictive allograft syndrome (RAS), which demonstrates increased overall computed tomography (CT) lung density in contrast with bronchiolitis obliterans syndrome (BOS), which demonstrates reduced overall CT lung density. This study aimed to evaluate a reader‐independent quantitative density metric (QDM) derived from CT histograms to associate with CLAD survival. A retrospective study evaluated CT scans corresponding to CLAD onset using pulmonary function tests in 74 patients (23 RAS, 51 BOS). Two different QDM values (QDM1 and QDM2) were calculated using CT lung density histograms. Calculation of QDM1 includes the extreme edges of the histogram. Calculation of QDM2 includes the central region of the histogram. Kaplan‐Meier analysis and Cox regression analysis were used for CLAD prognosis. Higher QDM values were significantly associated with decreased survival. The hazard ratio for death was 3.2 times higher at the 75th percentile compared to the 25th percentile using QDM1 in a univariate model. QDM may associate with CLAD patient prognosis. 相似文献
54.
Nursing work at a day hospital in João Pessoa-Paraíba from the perspective of the psychiatric reform
This is the report of an investigation that was carried out in order to apprehend themes that explain nursing work at a day hospital in Jo?o Pessoa, State of Paraíba, in the perspective of the psychiatric reform. The authors used the referential of dialectical and historical materialism and work as an analytical category. The empirical material was analyzed through the technique of discourse analysis. The study revealed a coincident theme--to change the model of traditional psychiatric assistance--and, in this sense, the work of nursing incorporates, in addition to its formal, technically specialized quality, a political quality, thus indicating a new meaning to the nursing work process. 相似文献
55.
Beatriz Lavras Costallat Daniel Miranda Ferreira Aline Tamires Lapa Letícia Rittner Lilian Tereza Lavras Costallat Simone Appenzeller 《Autoimmunity reviews》2018,17(1):36-43
Diffusion tensor imaging (DTI) maps the brain's microstructure by measuring fractional anisotropy (FA) and mean diffusivity (MD). This systematic review describes brain diffusion tensor Magnetic resonance imaging (MRI) studies in systemic lupus erythematosus (SLE).The literature was reviewed following the PRISMA guidelines and using the terms “lupus”, “systemic lupus erythematosus”, “SLE”, “diffusion tensor imaging”, “DTI”, “white matter” (WM), “microstructural damage”, “tractography”, and “fractional anisotropy”; the search included articles published in English from January 2007 to April 2017. The subjects included in the study were selected according to the ACR criteria and included 195 SLE patients with neuropsychiatric manifestation (NPSLE), 299 without neuropsychiatric manifestation (non-NPSLE), and 423 healthy controls (HC). Most studies identified significantly reduced FA and increased MD values in several WM regions of both NPSLE and non-NPSLE patients compared to HC. Subclinical microstructural changes were observed in either regional areas or the entire brain in both the non-NPSLE and NPSLE groups. 相似文献
56.
57.
Ericka Barbosa Trarbach Milena Gurgel Teles Elaine Maria Frade Costa Ana Paula Abreu Heraldo Mendes Garmes Gil Guerra Junior Maria Tereza Matias Baptista Margaret De Castro Berenice Bilharinho Mendonca Ana Claudia Latronico 《Clinical endocrinology》2010,72(3):371-376
Objective Congenital hypogonadotropic hypogonadism with anosmia (Kallmann syndrome) or with normal sense of smell is a heterogeneous genetic disorder caused by defects in the synthesis, secretion and action of gonadotrophin‐releasing hormone (GnRH). Mutations involving autosomal genes have been identified in approximately 30% of all cases of hypogonadotropic hypogonadism. However, most studies that screened patients with hypogonadotropic hypogonadism for gene mutations did not include gene dosage methodologies. Therefore, it remains to be determined whether patients without detected point mutation carried a heterozygous deletion of one or more exons. Measurements We used the multiplex ligation‐dependent probe amplification (MLPA) assay to evaluate the potential contribution of heterozygous deletions of FGFR1, GnRH1, GnRHR, GPR54 and NELF genes in the aetiology of GnRH deficiency. Patients We studied a mutation‐negative cohort of 135 patients, 80 with Kallmann syndrome and 55 with normosmic hypogonadotropic hypogonadism. Results One large heterozygous deletion involving all FGFR1 exons was identified in a female patient with sporadic normosmic hypogonadotropic hypogonadism and mild dimorphisms as ogival palate and cavus foot. FGFR1 hemizygosity was confirmed by gene dosage with comparative multiplex and real‐time PCRs. Conclusions FGFR1 or other autosomal gene deletion is a possible but very rare event and does not account for a significant number of sporadic or inherited cases of isolated GnRH deficiency. 相似文献
58.
59.
60.