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1.
目的由于卒中风险随着狭窄严重程度的增加而升高,因此认为颈内动脉(ICA)接近闭塞患者的卒中风险很高。在现有的随机试验中,还没有专门针对这种情况进行探讨,因此其处理尚存在争汶。方法:对相关文献进行系统评价。结果:对ICA接近闭塞患者的处理还存在争议:一些学者支持进行干预,而另一些学者则认为存在风险或没有益处而反对进行干预。在ICA接近闭塞的有症状患者中进行一项比较外科治疗与最佳内科治疗的多中心前瞻性随机试验似乎非常困难,因为这类研究需要大量的患者。尽管如此,基于目前的证据,似乎很难拒绝手术治疗。结论:由于目前对ICA接近闭塞患者的最佳处理方案仍存在着争议,因此需要前瞻性观察性研究以证实其在有症状和无症状人群中的患病率以及相关的卒中风险。基于目前的证据,大多数医疗中心选择手术治疗,但它相对干内科治疗的特粱尚右待证章. 相似文献
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Rupture of the distal biceps tendon: evaluation with MR imaging 总被引:2,自引:0,他引:2
5.
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability 总被引:1,自引:15,他引:1
La Spada AR; Peterson KR; Meadows SA; McClain ME; Jeng G; Chmelar RS; Haugen HA; Chen K; Singer MJ; Moore D; Trask BJ; Fischbeck KH; Clegg CH; McKnight GS 《Human molecular genetics》1998,7(6):959-967
X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG
repeat expansion in the first exon of the androgen receptor (AR) gene.
Disease-associated alleles (37-66 CAGs) change in length when transmitted
from parents to offspring, with a significantly greater tendency to shift
size when inherited paternally. As transgenic mice carrying human AR cDNAs
with 45 and 66 CAG repeats do not display repeat instability, we attempted
to model trinucleotide repeat instability by generating transgenic mice
with yeast artificial chromosomes (YACs) carrying AR CAG repeat expansions
in their genomic context. Studies of independent lines of AR YAC transgenic
mice with CAG 45 alleles reveal intergenerational instability at an overall
rate of approximately 10%. We also find that the 45 CAG repeat tracts are
significantly more unstable with maternal transmission and as the
transmitting mother ages. Of all the CAG/CTG repeat transgenic mice
produced to date the AR YAC CAG 45 mice are unstable with the smallest
trinucleotide repeat mutations, suggesting that the length threshold for
repeat instability in the mouse may be lowered by including the appropriate
flanking human DNA sequences. By sequence-tagged site content analysis and
long range mapping we determined that one unstable transgenic line has
integrated an approximately 70 kb segment of the AR locus due to
fragmentation of the AR YAC. Identification of the cis - acting elements
that permit CAG tract instability and the trans -acting factors that
modulate repeat instability in the AR YAC CAG 45 mice may provide insights
into the molecular basis of trinucleotide repeat instability in humans.
相似文献
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High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes 总被引:5,自引:0,他引:5
Shuber AP; Michalowsky LA; Nass GS; Skoletsky J; Hire LM; Kotsopoulos SK; Phipps MF; Barberio DM; Klinger KW 《Human molecular genetics》1997,6(3):337-347
As more mutations are identified in genes of known sequence, there is a
crucial need in the areas of medical genetics and genome analysis for
rapid, accurate and cost-effective methods of mutation detection. We have
developed a multiplex allele-specific diagnostic assay (MASDA) for analysis
of large numbers of samples (> 500) simultaneously for a large number of
known mutations (> 100) in a single assay. MASDA utilizes
oligonucleotide hybridization to interrogate DNA sequences. Multiplex DNA
samples are immobilized on a solid support and a single hybridization is
performed with a pool of allele-specific oligonucleotide (ASO) probes. Any
probes complementary to specific mutations present in a given sample are in
effect affinity purified from the pool by the target DNA. Sequence-specific
band patterns (fingerprints), generated by chemical or enzymatic sequencing
of the bound ASO(s), easily identify the specific mutation(s). Using this
design, in a single diagnostic assay, we tested samples for 66 cystic
fibrosis (CF) mutations, 14 beta-thalassemia mutations, two sickle cell
anemia (SCA) mutations, three Tay-Sachs mutations, eight Gaucher mutations,
four mutations in Canavan disease, four mutations in Fanconi anemia, and
five mutations in BRCA1. Each mutation was correctly identified. Finally,
in a blinded study of 106 of these mutations in > 500 patients, all
mutations were properly identified. There were no false positives or false
negatives. The MASDA assay is capable of detecting point mutations as well
as small insertion or deletion mutations. This technology is amenable to
automation and is suitable for immediate utilization for high-throughput
genetic diagnostics in clinical and research laboratories.
相似文献
9.
Dou Q; Tarnuzzer RW; Williams RS; Schultz GS; Chegini N 《Molecular human reproduction》1997,3(11):1005-1014
10.
Rodgers KE; Girgis W; St Amand K; Campeau J; diZerega GS 《Human reproduction (Oxford, England)》1998,13(9):2443-2451
Adhesion formation is a major source of postoperative morbidity and
mortality. In this study, the ability of a variety of lazaroid formulations
[the antioxidant 21-aminosteroid PNU74006F (tirilazad) and the
non-steroidal 2-methylaminochroman derivative PNU83,836E] to reduce i.p.
adhesion formation in three rabbit models was examined. In initial studies,
PNU83836E was administered via Alzet miniosmotic pump to the site of
injury. In the sidewall and double uterine horn models, PNU83,836E was
administered via Alzet miniosmotic pump for the entire postoperative
interval. In the sidewall model, there was a dose- dependent reduction in
the area of the sidewall injury that was involved in adhesions. In the
double uterine horn model, PNU83,836E was administered via Alzet
miniosmotic pump to the area of injury for 1, 2, 3 or 7 days.
Administration for as little as 24 h after surgery significantly reduced
the extent of adhesion formation and the reduction was increased if it was
administered for longer. Further studies were conducted in which various
lazaroid formulations were administered as a bolus at the end of surgery.
In both the sidewall and double uterine horn models, administration of
either PNU83,386E (in citrate buffer) or PNU74006F (in cyclodextrin or
lipid emulsion vehicles) at the end of surgery reduced adhesion formation.
Administration of a bolus of PNU74006F 10 min prior to initiation of
surgery with or without additional treatment at the end of surgery further
increased its efficacy in the reduction of adhesion formation.
Administration of a minimum of 1.5 mg before and after surgery (3 mg total)
was required for maximal efficacy. These studies demonstrate that pre- and
postoperative administration of either a steroidal (PNU74006F) or
non-steroidal (PNU83,836E) lazaroid intraperitoneally reduced the formation
and reformation of postoperative adhesions in three animal models.
相似文献