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排序方式: 共有216条查询结果,搜索用时 9 毫秒
201.
202.
Vanessa FZ Marinho Konradin Metze Fernanda SF Sanches Gislene FS Rocha Helenice Gobbi 《BMC cancer》2008,8(1):64
Background
Immunohistochemical studies of lymphatic vessels have been limited by a lack of specific markers. Recently, the novel D2-40 antibody, which selectively marks endothelium of lymphatic vessels, was released. The aim of our study is to compare lymphatic and blood vessel invasion detected by hematoxylin and eosin (H&E) versus that detected by immunohistochemistry, relating them with morphologic and molecular prognostic factors. 相似文献203.
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205.
Peixoto A Salgueiro N Santos C Varzim G Rocha P Soares MJ Pereira D Rodrigues H Bento MJ Fráguas A Moura G Regateiro F Castedo S Teixeira MR 《Familial cancer》2006,5(4):379-387
We present the first characterisation of the mutational spectrum of the entire coding sequences and exon–intron boundaries of the BRCA1 and BRCA2 genes as well as large BRCA1 rearrangements in Portuguese families with inherited predisposition to breast/ovarian cancer. Of the 100 probands studied, pathogenic mutations were identified in 22 (24.7%) of 89 breast and/or ovarian cancer families with more than one affected member (15 in BRCA1 and seven in BRCA2), but in none of the 11 patients without family history of cancer. One (6.7%) of the BRCA1 mutations is a large deletion involving exons 11–15. Seven pathogenic point mutations are novel: 2088C>T, 2156delinsCC, and 4255_4256delCT in BRCA1 and 4608_4609delTT, 5036delA, 5583_5584insT, and 8923C>T in BRCA2. The novel 2156delinsCC was identified in three probands from different families and probably represents a founder mutation in our population. We also found a previously reported 3450_3453del4 mutation in three unrelated patients. In addition to the 22 pathogenic mutations, we identified 19 missense mutations of uncertain pathogenic significance, three of them (5241G>C in BRCA1 and IVS6+13C>T and 3731T>C in BRCA2) previously undescribed. The percentage of cases with truncating mutations in BRCA1 and BRCA2 was higher in breast/ovarian cancer (37.0%, mostly BRCA1) and male breast cancer (40%, all BRCA2) families than in families with only female breast cancer (17.5%). Interestingly, we found evidence for genetic anticipation regarding age at diagnosis of both breast and ovarian cancer in those families presenting affected members in more than one generation. These findings should be taken into consideration while planning screening and prophylactic measures in families with inherited predisposition to breast and ovarian cancer. 相似文献
206.
沙苑子化学成分的研究Ⅱ 总被引:4,自引:0,他引:4
沙苑子为豆科黄芪属植物扁茎黄芪(Astragalus complanatus R.Brown)的种子,有益肾固精、补肝明目之功能。有关沙苑子的化学成分,除本文作者曾从水溶液中分离得到氨基酸外,其他化学成分的研究尚未见报道。本文从脱脂沙苑子的乙醇提出物中分得一新的黄酮甙,确定为鼠李柠檬素-3,4′-O-β-D-双葡萄糖甙,命名为沙苑子甙(complanatuside)。 相似文献
207.
Costa MC Magalhães P Ferreirinha F Guimarães L Januário C Gaspar I Loureiro L Vale J Garrett C Regateiro F Magalhães M Sousa A Maciel P Sequeiros J 《European journal of human genetics : EJHG》2003,11(11):872-878
Huntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenatal testing (four were done for family studies). Most referring physicians were neurologists (90.6%); 82.8% of all clinical diagnosis were confirmed, while 83.1% of those sent for exclusion were in fact excluded. In presymptomatic testing, an excess of female subjects (59.4%) was again verified; 37.5% of the consultands were found to be carriers. None of the foetuses, in four prenatal tests, were mutation carriers. One juvenile case was inherited from her mother. Our patient population is very similar to others described so far, namely in terms of mean age at onset and (CAG)(n) distribution, except perhaps for a higher frequency of large normal (class 2) alleles (3.7%). We also identify cases posing particular problems for genetic counselling, such as, 'homozygosity' that can pose a serious ethical dilemma, carriers of large normal alleles, and 'homoallelism' for a normal gene, which will demand further procedures and may delay results in presymptomatic and prenatal testing. 相似文献
208.
Santos TA Dias C Henriques P Brito R Barbosa A Regateiro F Santos AA 《Journal of assisted reproduction and genetics》2003,20(3):122-130
Purpose: Spontaneous parthenogenetically activated noninseminated oocytes and failed fertilized oocytes after ART activated by puromycin were studied to assess cleavage ability and the cytogenetic constitution of the resulting embryos.
Methods: Failed fertilized oocytes were exposed to puromycin, and whenever activation occurred, they were further cultured until arrest of development. FISH was used to assess the ploidy of spontaneous (group A) and induced parthenotes (group B).
Results: The mean number of oocytes exposed to puromycin and the percentage and type of activation were identical in IVF and ICSI patients. The more frequent types of activation were one or two pronuclei and one polar body suggesting that retention of the second polar body is a common event after parthenogenetic activation.
Conclusions: Retention of the second polar body and chromosome malsegregation were observed after parthenogenetic activation, either spontaneous or induced by puromycin. This means that using parthenogenetic embryos for stem cell research will require great care and attention. 相似文献
209.
Fetal choroid plexus cysts: beware the smaller cyst 总被引:1,自引:0,他引:1
Perpignano MC; Cohen HL; Klein VR; Mandel FS; Streltzoff J; Chervenak FA; Goldman MA 《Radiology》1992,182(3):715