全文获取类型
收费全文 | 156篇 |
免费 | 7篇 |
专业分类
儿科学 | 16篇 |
妇产科学 | 2篇 |
基础医学 | 55篇 |
临床医学 | 18篇 |
内科学 | 26篇 |
神经病学 | 4篇 |
特种医学 | 4篇 |
外科学 | 8篇 |
预防医学 | 10篇 |
眼科学 | 1篇 |
药学 | 2篇 |
肿瘤学 | 17篇 |
出版年
2023年 | 1篇 |
2022年 | 2篇 |
2021年 | 1篇 |
2020年 | 1篇 |
2019年 | 1篇 |
2017年 | 2篇 |
2016年 | 3篇 |
2015年 | 3篇 |
2014年 | 5篇 |
2013年 | 9篇 |
2012年 | 13篇 |
2011年 | 14篇 |
2010年 | 10篇 |
2009年 | 14篇 |
2008年 | 15篇 |
2007年 | 6篇 |
2006年 | 11篇 |
2005年 | 10篇 |
2004年 | 4篇 |
2003年 | 5篇 |
2002年 | 7篇 |
2001年 | 5篇 |
2000年 | 3篇 |
1999年 | 5篇 |
1998年 | 2篇 |
1996年 | 1篇 |
1989年 | 3篇 |
1983年 | 1篇 |
1982年 | 1篇 |
1942年 | 1篇 |
1922年 | 2篇 |
1920年 | 1篇 |
1919年 | 1篇 |
排序方式: 共有163条查询结果,搜索用时 265 毫秒
121.
Vergult S Krgovic D Loeys B Lyonnet S Liedén A Anderlid BM Sharkey F Joss S Mortier G Menten B 《European journal of human genetics : EJHG》2011,19(10):1032-1037
The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of chromosome bands 12q15q21.1. The deletions are ~2.5 Mb in size, with a 1.34-Mb common deleted region containing six RefSeq genes. All three patients present with learning disability or developmental delay, nasal speech and hypothyroidism. In this paper we will further elaborate on the genotype-phenotype correlation associated with this deletion and compare our patients with previously reported cases. 相似文献
122.
123.
Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes 总被引:1,自引:0,他引:1
Li W Wang X Fan W Zhao P Chan YC Chen S Zhang S Guo X Zhang Y Li Y Cai J Qin D Li X Yang J Peng T Zychlinski D Hoffmann D Zhang R Deng K Ng KM Menten B Zhong M Wu J Li Z Chen Y Schambach A Tse HF Pei D Esteban MA 《Human molecular genetics》2012,21(1):32-45
Many human diseases share a developmental origin that manifests during childhood or maturity. Aneuploid syndromes are caused by supernumerary or reduced number of chromosomes and represent an extreme example of developmental disease, as they have devastating consequences before and after birth. Investigating how alterations in gene dosage drive these conditions is relevant because it might help treat some clinical aspects. It may also provide explanations as to how quantitative differences in gene expression determine phenotypic diversity and disease susceptibility among natural populations. Here, we aimed to produce induced pluripotent stem cell (iPSC) lines that can be used to improve our understanding of aneuploid syndromes. We have generated iPSCs from monosomy X [Turner syndrome (TS)], trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau syndrome) and partial trisomy 11;22 (Emanuel syndrome), using either skin fibroblasts from affected individuals or amniocytes from antenatal diagnostic tests. These cell lines stably maintain the karyotype of the donors and behave like embryonic stem cells in all tested assays. TS iPSCs were used for further studies including global gene expression analysis and tissue-specific directed differentiation. Multiple clones displayed lower levels of the pseudoautosomal genes ASMTL and PPP2R3B than the controls. Moreover, they could be transformed into neural-like, hepatocyte-like and heart-like cells, but displayed insufficient up-regulation of the pseudoautosomal placental gene CSF2RA during embryoid body formation. These data support that abnormal organogenesis and early lethality in TS are not caused by a tissue-specific differentiation blockade, but rather involves other abnormalities including impaired placentation. 相似文献
124.
Karen Buysse Francesca Antonacci Bert Callewaert Bart Loeys Ulrike Fr?nkel Victoria Siu Geert Mortier Frank Speleman Bj?rn Menten 《European journal of medical genetics》2009,52(1):31-36
Inverted 8p duplication deletions are recurrent chromosomal rearrangements that are mediated through non-allelic homologous recombination (NAHR) between olfactory receptor (OR) gene clusters at 8p23.1. These rearrangements result in a proximal inverted duplication of various extent, a single copy region between the OR gene clusters and a terminal 8p deletion. The terminal deletions are stabilized by direct addition of telomeric repeats, so called telomere healing. Here, we report a patient with an unusual inverted duplication deletion of 8p. Stabilization of the broken chromosome end was achieved by telomere capture instead of telomere healing, resulting in an additional duplication of 8q24.13→qter on the short arm of chromosome 8. Moreover, the inverted duplication was only 3.4 Mb in size (restricted to band 8p22) and thus cytogenetically undetectable. To the best of our knowledge this is the smallest inverted duplication reported hitherto. We describe the molecular characterization by FISH and array CGH of this unusual inv dup del (8p) and a previously reported patient with a similar 8q duplication and review the literature on cases associated with telomere capture. 相似文献
125.
126.
We describe an original reconstruction method for spine CT performed in four patients with single or multiple congenital spine abnormalities. Conventional radiographic imaging is at the forefront of diagnosis and follow-up of congenital scoliosis, but is frequently difficult to interpret. Three-dimensional CT reconstruction facilitates visualization of complex anatomic structures, but does not give a reliable assessment of failures of segmentation. Mental three-dimensional reconstruction of the information displayed by classical multiplanar reformatted CT remains difficult. Planispheric reformatted imaging allows the visualization of all deformities in a single plane. 相似文献
127.
Menten R Lebecque P Saint-Martin C Clapuyt P 《AJR. American journal of roentgenology》2005,184(6):1901-1903
OBJECTIVE: We sought to investigate whether the outer diameter of the vermiform appendix on cross-sectional sonography is as reliable a criterion with which to confirm acute appendicitis in patients with cystic fibrosis as in those without cystic fibrosis. CONCLUSION: The outer appendiceal diameter of 6 mm or more cannot be considered a reliable criterion for the diagnosis of acute appendicitis in patients with cystic fibrosis. 相似文献
128.
129.
Raymond E Campone M Stupp R Menten J Chollet P Lesimple T Fety-Deporte R Lacombe D Paoletti X Fumoleau P;EORTC Early Clinical Studies Group 《European journal of cancer (Oxford, England : 1990)》2002,38(10):1348-1350
A phase II trial was instigated to investigate the antitumour activity, the safety and the pharmacokinetic parameters of RFS2000, a recently identified oral topoisomerase I inhibitor, given once daily (1.5 mg/m(2)/day) as first-line chemotherapy treatment for patients with advanced glioblastoma multiforme (GBM). Between 9 March and 15 September 2000, 17 patients were entered onto the trial. 15 patients were considered eligible. A total of 49 cycles (range 1-8) were administered. Grade 3-4 toxicity was observed in 5 patients. Neutropenia and thrombocytopenia were common toxicities. Pharmacokinetic analysis showed that 9-nitro camptothecin (9-NC) could be detected in the plasma and is progressively converted into 9-amino-camptothecin (9-AC). The response rate was poor, with 5 patients experiencing tumour stabilisation and 10 progressing. Thus, the results do not support the further evaluation of RFS2000 as a single agent in patients with recurrent GBM. 相似文献
130.
Wuyts A Struyf S Gijsbers K Schutyser E Put W Conings R Lenaerts JP Geboes K Opdenakker G Menten P Proost P Van Damme J 《Laboratory investigation; a journal of technical methods and pathology》2003,83(1):23-34
Human granulocyte chemotactic protein-2 (GCP-2)/CXCL6 is a CXC chemokine that functionally uses both of the IL-8/CXCL8 receptors to chemoattract neutrophils but that is structurally most related to epithelial cell-derived neutrophil attractant-78 (ENA-78)/CXCL5. This study provides the first evidence that GCP-2 protein is, compared with IL-8, weakly produced by some sarcoma, but less by carcinoma cells, and is tightly regulated in normal mesenchymal cells. IL-1beta was the predominant GCP-2 inducer in fibroblasts, chondrocytes, and endothelial cells, whereas IL-8 was equally well up-regulated in these cells by TNF-alpha, measles virus, or double-stranded RNA (dsRNA). In contrast, lipopolysaccharide (LPS) was a relatively better stimulus for GCP-2 versus IL-8 in fibroblasts. IFN-gamma down-regulated the GCP-2 production in fibroblasts induced by IL-1beta, TNF-alpha, LPS, or dsRNA. The kinetics of GCP-2 induction by IL-1beta, LPS, or dsRNA in fibroblasts differed from those of IL-8. Freshly isolated peripheral blood mononuclear leukocytes, which are a good source of IL-8 and ENA-78, failed to produce GCP-2. However, lung macrophages and blood monocyte-derived macrophages produced GCP-2 in response to LPS. Quantitatively, secretion of GCP-2 always remained inferior to that of IL-8, despite the fact that the ELISA recognized all posttranslationally modified GCP-2 isoforms. The expression of GCP-2 was confirmed in vivo by immunohistochemistry. The patterns of producer cell types, inducers and kinetics and the quantities of GCP-2 produced, suggest a unique role for GCP-2 in physiologic and pathologic processes. 相似文献