全文获取类型
收费全文 | 703篇 |
免费 | 45篇 |
国内免费 | 3篇 |
专业分类
耳鼻咽喉 | 3篇 |
儿科学 | 10篇 |
妇产科学 | 3篇 |
基础医学 | 157篇 |
口腔科学 | 3篇 |
临床医学 | 49篇 |
内科学 | 108篇 |
皮肤病学 | 33篇 |
神经病学 | 115篇 |
特种医学 | 24篇 |
外科学 | 128篇 |
综合类 | 1篇 |
预防医学 | 33篇 |
眼科学 | 13篇 |
药学 | 36篇 |
肿瘤学 | 35篇 |
出版年
2022年 | 5篇 |
2021年 | 6篇 |
2020年 | 4篇 |
2019年 | 7篇 |
2018年 | 11篇 |
2017年 | 3篇 |
2016年 | 12篇 |
2015年 | 20篇 |
2014年 | 16篇 |
2013年 | 23篇 |
2012年 | 40篇 |
2011年 | 41篇 |
2010年 | 24篇 |
2009年 | 33篇 |
2008年 | 45篇 |
2007年 | 47篇 |
2006年 | 48篇 |
2005年 | 52篇 |
2004年 | 37篇 |
2003年 | 37篇 |
2002年 | 57篇 |
2001年 | 10篇 |
2000年 | 12篇 |
1999年 | 11篇 |
1998年 | 10篇 |
1997年 | 9篇 |
1996年 | 13篇 |
1995年 | 7篇 |
1994年 | 7篇 |
1993年 | 6篇 |
1992年 | 8篇 |
1989年 | 3篇 |
1988年 | 7篇 |
1987年 | 3篇 |
1985年 | 5篇 |
1984年 | 5篇 |
1983年 | 3篇 |
1982年 | 4篇 |
1981年 | 7篇 |
1980年 | 5篇 |
1978年 | 4篇 |
1977年 | 3篇 |
1976年 | 3篇 |
1975年 | 6篇 |
1974年 | 3篇 |
1973年 | 2篇 |
1972年 | 4篇 |
1969年 | 3篇 |
1968年 | 2篇 |
1967年 | 3篇 |
排序方式: 共有751条查询结果,搜索用时 31 毫秒
21.
Chantal Stoepker Eunike Velleuer Richard Friedl Birgit Gottwald‐Mühlhauser Johan P. de Winter Detlev Schindler 《Human mutation》2013,34(1):93-96
Fanconi anemia (FA) is a rare genetic disorder characterized by congenital malformations, progressive bone marrow failure (BMF), and susceptibility to malignancies. FA is caused by biallelic or hemizygous mutations in one of 15 known FA genes, whose products are involved in the FA/BRCA DNA damage response pathway. Here, we report on a patient with previously unknown mutations of the most recently identified FA gene, SLX4/FANCP. Whole exome sequencing (WES) revealed a nonsense mutation and an unusual splice site mutation resulting in the partial replacement of exonic with intronic bases, thereby removing a nuclear localization signal. Immunoblotting detected no residual SLX4 protein, which was consistent with abrogated interactions with XPF/ERCC1 and MUS81/EME1. This cellular finding did not result in a more severe clinical phenotype than that of previously reported FA‐P patients. Our study additionally exemplifies the versatility of WES for the detection of mutations in heterogenic disorders such as FA. 相似文献
22.
Stavros M Stivaros Robert Alston Neville B Wright Kate Chandler Denise Bonney Robert F Wynn Andrew M Will Maqsood Punekar Sean Loughran John-Paul Kilday Detlev Schindler Leena Patel Stefan Meyer 《The British journal of radiology》2015,88(1056)
Objective:
Fanconi anaemia (FA) is an inherited disease associated with congenital and developmental abnormalities resulting from the disruption of a multigenic DNA damage response pathway. This study aimed to define the MRI appearances of the brain in patients with FA in correlation with their genetic and clinical features.Methods:
A review of the brain MRI in 20 patients with FA was performed. Pituitary size and frequencies of the radiological findings of individuals with FA and age-matched controls were determined.Results:
Abnormalities were identified in 18 (90%) patients with FA, the commonest being a small pituitary (68%, p < 0.01 females and p < 0.001 males). In five cases (25%, p = 0.02), the pituitary morphology was also abnormal. Posterior fossa abnormalities were seen in six cases (30%, p = 0.01) including Chiari I malformation (n = 3), Dandy–Walker variant (n = 2) and cerebellar atrophy (n = 2). Six patients (30%, p = 0.01) had morphological structural variation of the corpus callosum (CC).Conclusion:
The incidence of central nervous system (CNS) abnormalities in FA is higher than previously reported, with a midline predominance that points to impact in the early stages of CNS development. MRI brain imaging is important for endocrine assessment and pre-transplant evaluation and can make an important contribution to clinical decision-making.Advances in knowledge:
The incidence of brain structural abnormalities in FA is higher than previously reported, with abnormalities of the posterior fossa, CC and pituitary being common. There is an association with gender and reduction in pituitary size which does not strongly correlate with biochemically evident endocrine abnormality. 相似文献23.
Background
A 55-year-old male patient sustained a dislocation of the acromioclavicular (AC) joint in combination with a distal clavicle fracture.Methods
Following closed reduction of the fractured clavicle, arthroscopically assisted coracoclavicular fixation was performed.Discussion and conclusion
A combined injury of a complete ac joint dislocation and a distal clavicle fracture is rare and is not included in currently available classification systems; therefore, in this article a classification and assessment of the stability of this injury as well as appropriate treatment options are discussed.24.
Miche E Radzewitz A Notohamiprodjo G Baller D Kloppe A Eckert S Gleichmann U 《European journal of heart failure》2002,4(4):431-438
BACKGROUND: The rate constant for global fatty acid influx (k(1)) was studied in 12 male patients with dilated cardiomyopathy (DCM). METHOD: 10 normal subjects served as controls. 201-Thallium (201TI) and [123I]-phenyl-pentadecanoic acid (IPPA) were administered during bicycle exercise under fasting conditions. RESULTS: All patients showed non-homogeneous tracer uptake defects for 201TI and IPPA. k(1) was significantly higher in DCM patients than controls. k(1) showed significant inverse correlation between cardiac index, left-ventricular ejection fraction, left-ventricular enddiastolic pressure and echocardiographic left-ventricular ejection fraction. CONCLUSION: We presume that an increased regional rate constant of IPPA influx into the myocardial tissue in patients with DCM reflects a compensatory mechanism of altered myocardium. 相似文献
25.
26.
27.
28.
29.
Virus Genes - The emerging occurrence of antibiotic-resistant bacterial pathogens leads to a recollection of bacteriophage as antimicrobial therapeutics. This article presents a short overview of... 相似文献
30.