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BACKGROUND: Filamentary keratitis is most often a chronic corneal condition, characterized by filaments attached at one or both ends to the cornea. Patients often experience foreign body sensation, grittiness, discomfort, photophobia, blepharospasm, and increased blinking. Filamentary keratitis is commonly the result of aqueous deficient dry eye syndrome. Management options include lubrication, punctal occlusion, removal of filaments, hypertonic saline, mucolytic agents, anti-inflammatory agents, and therapeutic contact lenses. CASE REPORT: A 58-year-old man came to us with acute symptoms of pain, photophobia, and redness x 2 days 0.S. The diagnosis of filamentary keratitis was made based on the clinical findings of positively staining mucus strands attached to the superior cornea. The patient was also found to have dry eye, blepharitis, and floppy eyelid syndrome. Numerous treatment regimens were implemented, including lubrication with non-preserved artificial tears, lubricating ointment, and topical steroids. The patient's condition was finally best managed with silicone plug punctal occlusion and therapeutic contact lenses. CONCLUSION: Filamentary keratitis can be a recurrent and incapacitating condition that may prove difficult to manage. 相似文献
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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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In a child with some features of Turner's syndrome, gonosomal mosaicism with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos 45,X/47,X,idic(Y)(q11),idic(Y)(11)/46,X,idic(Y)(q11)). Histopathological examination showed streak gonads with some evidence of ovarian stroma and no sign of gonadoblastoma. Polymerase chain reaction (PCR) analysis in blood lymphocytes and gonadal tissues using primers of seven loci along the Y chromosome, including the sex determined region (SRY), azoospermia factor region (AZF) and the deleted in azoospermia ( DAZ ) gene was positive for all loci tested, confirming the isodicentric character of the Y chromosome and indicating the presence of the AZF region. It is remarkable that the existence of spermatogenesis controlling genes does not play an important role in gonadal development and differentiation in a phenotypic female with some Turner stigmata. The data presented here are briefly discussed with previously-described patients. 相似文献
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Renal transplant (RT) is now a therapy of choice for end stage renal disease (ESRD). The Nephrology Unit, Asvini started functioning in Dec 90 and to date 1298 sittings of hemodialysis have been given to 45 patients. Of these, 35 were in ESRD and 11 patients underwent renal transplantation at this hospital during the period Jan 91 – Dec 93. One patient expired after 18 months of transplantation due to infection. Early experience in screening patients for RT, use of immunosuppression, management of rejection episodes and protocol are presented with special emphasis on its relevance to the Armed Forces.KEY WORDS: Transplantation, Renal Failure, Immunosuppression, Rejection 相似文献
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BACKGROUND: Many patients with congestive heart failure (CHF) receive care solely from a primary care physician, while some receive care from both a primary care physician and a cardiologist. Patients in the latter type of care relationships have not been described. The principal objectives of our study were to determine what percentage of patients with CHF are comanaged, the characteristics of comanaged CHF patients, and when in the natural history of CHF this relationship is initiated. METHODS: A retrospective record review was conducted of all patients who met the modified Framingham criteria for the diagnosis of CHF in a large community-based family practice office. Comanagement was defined as an ongoing relationship with a cardiologist characterized by a minimum of one visit to the cardiologist's office in the year of evaluation. We divided the natural history of CHF into 4 stages to describe the timing of the initial referral to the cardiologist: I Prediagnosis; II Diagnosis; III Progression; and IV Terminal. RESULTS: Of 151 patients identified with CHF, 36% of the patients were comanaged by a primary care physician and a cardiologist. The comanagement relationship often began early in the development of CHF, 20% at stage I and 54% at stage II. The patients who were comanaged were younger, predominately men, had a greater frequency of myocardial infarction, were more likely to have decreased systolic function, were on more cardiac medications, and had fewer hospitalizations for CHF exacerbations compared with CHF patients managed solely by family physicians. CONCLUSIONS: Comanagement of patients with CHF is a common occurrence, and comanaged CHF patients have distinct characteristics from those managed solely by family physicians. These results have implications for the quality and cost of caring for patients with CHF and suggest that more detailed study is required. 相似文献
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