全文获取类型
收费全文 | 168篇 |
免费 | 14篇 |
国内免费 | 5篇 |
专业分类
耳鼻咽喉 | 1篇 |
儿科学 | 2篇 |
基础医学 | 30篇 |
口腔科学 | 1篇 |
临床医学 | 8篇 |
内科学 | 13篇 |
皮肤病学 | 1篇 |
神经病学 | 86篇 |
外科学 | 3篇 |
综合类 | 9篇 |
预防医学 | 1篇 |
药学 | 17篇 |
中国医学 | 4篇 |
肿瘤学 | 11篇 |
出版年
2023年 | 1篇 |
2022年 | 2篇 |
2021年 | 4篇 |
2020年 | 7篇 |
2019年 | 7篇 |
2018年 | 10篇 |
2017年 | 5篇 |
2016年 | 8篇 |
2015年 | 6篇 |
2014年 | 15篇 |
2013年 | 4篇 |
2012年 | 13篇 |
2011年 | 10篇 |
2010年 | 9篇 |
2009年 | 8篇 |
2008年 | 6篇 |
2007年 | 3篇 |
2006年 | 13篇 |
2005年 | 7篇 |
2004年 | 7篇 |
2003年 | 6篇 |
2002年 | 5篇 |
2001年 | 6篇 |
2000年 | 4篇 |
1999年 | 3篇 |
1998年 | 3篇 |
1997年 | 2篇 |
1996年 | 1篇 |
1995年 | 5篇 |
1994年 | 1篇 |
1993年 | 1篇 |
1990年 | 1篇 |
1981年 | 1篇 |
1980年 | 3篇 |
排序方式: 共有187条查询结果,搜索用时 31 毫秒
11.
Sutton IJ Mocroft AP Lindley VH Barber RM Bryon RJ Winer JB MacDonald F 《Neuromuscular disorders : NMD》2004,14(12):804-809
Hereditary neuropathy with liability to pressure palsies arises as a result of defects at the chromosome 17p11.2-12 locus and in 84% of cases a 1.5 Mb deletion containing the PMP22 gene is detected by analysis that utilises polymorphic (CA)n repeat markers which flank this gene. We report the clinical and electrophysiological findings observed in a kindred with three members affected by HNPP due to a deletion containing exons 4 and 5 of the PMP22 gene. This small deletion cannot be detected using standard analysis with polymorphic (CA)n repeat markers and a definitive diagnosis was made by multiplex ligation-dependent probe analysis of PMP22 exons 1A-5. MLPA can be readily utilised as a routine diagnostic laboratory test to detect the common HNPP 1.5 Mb deletion, as well as the reciprocal 1.5 Mb insertion observed in CMT1A, but has the advantage over other diagnostic techniques of being able to define single exon deletions. 相似文献
12.
OBJECTIVE: To describe a patient with the Dejerine-Sottas' syndrome due to a de novo Ser72Leu amino acid substitution in the PMP22 protein and summarize the phenotype associated with this frequent mutation. CASE REPORT: The proband has a medical history of early onset, severe, and progressive demyelinating neuropathy, accompanied by mild ptosis and limitations of eye movements. Ulnar nerve motor conduction velocities were extremely reduced (2.6 and 2.2 m/s), and the sural nerve biopsy showed onion bulbs and thinly myelinated axons. Duplication of chromosome 17p11.2 was ruled out, and the Ser72Leu substitution was found upon sequencing the PMP22 gene. CONCLUSION: The Ser72Leu substitution is being confirmed as the most frequent point mutation in the PMP22 gene. This 'hot spot' should be considered in the strategy of looking for point mutations in the hereditary demyelinating neuropathies. 相似文献
13.
14.
Ohnishi A Yamamoto T Izawa K Yamamori S Takahashi K Mega H Jinnai K 《Acta neuropathologica》2000,99(3):327-330
The Ser149Arg mutation of peripheral myelin protein 22 (PMP22) was found in a 19-year-old woman with a sporadic case of Dejerine-Sottas
disease. The patient showed delayed motor development. She walked for the first time with support at the age of 2 years. Scoliosis
developed at age 4 years. Her walking ability was best at age 11. Thereafter, she showed progressive muscle weakness and sensory
disturbances in the distal extremities. At the age of 18 years, the use of a wheelchair became necessary. Motor and sensory
nerve conduction studies showed absent motor and sensory responses on electrical stimulation of the limb nerves. A sural nerve
biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation,
and hypomyelination. Electron microscopic observation revealed the presence of demyelinated axons and myelin sheaths disproportionately
thin relative to axon diameter. That this was a de novo mutation was established by parentage testing and PMP22 gene analysis
of the parents. The mutation seems to be novel and dominant.
Received: 12 April 1999 / Accepted: 14 June 1999 相似文献
15.
HPLC测定赤参丹中丹酚酸B含量 总被引:2,自引:1,他引:1
目的为保证药物安全有效,完善赤参丹质量标准,对赤参丹中丹酚酸B进行了含量测定方法的研究。方法HPLC色谱条件:Kromasoil C18(250mm×4.6mm,5μm);甲醇.乙腈-甲酸-水(28:10:1:61)为流动相,检测波长为286nm,流速1.0mL·min^-1。结果丹酚酸B在浓度0.1083~1.2998μg内线性关系良好(r=0.9998)。样品的平均回收率为98.7%,RSD为1.7%。结论本方法简便可靠,结果稳定,重复性好,可准确测定赤参丹中丹酚酸B的含量。 相似文献
16.
17.
18.
19.
Gilardini A Avila RL Oggioni N Rodriguez-Menendez V Bossi M Canta A Cavaletti G Kirschner DA 《Neurotoxicology》2012,33(1):1-7
Purpose
Alterations in mRNA for myelin proteins are reported in animal models of chemotherapy-induced peripheral neuropathies (CIPN); however, ultrastructural changes in aldehyde-fixed and plastic-embedded myelin are not evident by electron microscopy. Therefore, we used X-ray diffraction (XRD) to investigate more subtle changes in myelin sheath structure from unfixed nerves.Experimental design
We used in vivo chronic animal models of CIPN in female Wistar rats, administering cisplatin (CDDP 2 mg/kg, i.p. twice/week), paclitaxel (PT 10 mg/kg, i.v. once/week) or bortezomib (0.20 mg/kg, i.v. three times/week) over a total period of 4 weeks. Animal weights were monitored, and tail nerve conduction velocity (NCV) was determined at the end of the treatments to assess the occurrence of peripheral neuropathy. Sciatic nerves were collected and the myelin structure was analyzed using electron microscopy (EM) and XRD.Results
All the rats treated with the chemotherapy agents developed peripheral neuropathy, as indicated by a decrease in NCV values; however, light and electron microscopy indicated no severe pathological alterations of the myelin morphology. XRD also did not demonstrate significant differences between sciatic nerves in treated vs. control rats with respect to myelin period, relative amount of myelin, membrane structure, and regularity of membrane packing.Conclusions
These results indicate that experimental peripheral neuropathy caused by CDDP, PT, and bortezomib—which are among the most widely used chemotherapy agents—does not significantly affect the structure of internodal myelin in peripheral nerve. 相似文献20.
Kim Govaerts K. Chandrakumaran Norman J. Carr Thomas D. Cecil Sanjeev Dayal Faheez Mohamed Andrew Thrower Brendan J. Moran 《European journal of surgical oncology》2018,44(9):1371-1377