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排序方式: 共有420条查询结果,搜索用时 15 毫秒
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Kazuo Umetsu Isao Yuasa Takao Yamashita Susumu Saito Tomio Yamaguchi Srinama B. Ellepola Takafumi Ishida Tsuneo Suzuki 《Journal of human genetics》1989,34(3):195-202
The genetic polymorphism of orosomucoid (ORM) and alpha-2-HS-glycoprotein (AHSG) were studied in Thai, Sri Lankan and Paraguayan populations using isoelectric focusing. Gene frequencies in these populations were compared with those in other populations. Four new ORM variants were detected:ORM1
*
15 in Thai,ORM1
*
16 in Paraguayan,ORM2
*
21 andORM2
*
22 in Sri Lankan. 相似文献
5.
乳腺管状小叶癌(Tubulolobular carcinoma,TLC)最初是被作为小叶癌的管状变型。作者总结了27例TLC的组织学、免疫表型和临床特征,并与纯小管癌和经典型小叶癌进行了比较。此组患者年龄43-79岁(中位年龄60岁)。1例双侧乳腺受累,5例病变为多灶性。肿瘤直径0.5-2.5cm,色灰褐,质硬。组织学观察:TLC的肿瘤细胞形成管状和条索状两种结构模式并相互混杂,且两者比例相当(统称为管状小叶模式)。 相似文献
6.
Yuasa I Nakamura H Henke L Henke J Nakagawa M Irizawa Y Umetsu K 《Journal of human genetics》2001,46(10):572-578
In this study, the structure of the α1-acid glycoprotein (AGP), or orosomucoid (ORM), gene was investigated in a Ghanaian mother and her child, who shared an unusual variant, ORM1 S2(C), found by isoelectric focusing. Three remarkable changes of nucleotide sequence were observed: (1) The two ORM1 alleles,
ORM1
*
S and ORM1
*
S2(C), had the AGP2 gene-specific sequence at one and three regions, respectively, in exon 5 to intron 5. The variant allele originating from
ORM1
*
S was characterized by a G-to-A transition, resulting in an amino acid change from valine to methionine, which is also detected
in ORM1 F2, a form that is common in Europeans. (2) The AGP2 gene of the child, inherited from the father, was duplicated, as revealed by long-range polymerase chain reaction. (3) Three
new mutations were observed in two exons of the AGP2 genes of the mother and child. All of these novel genomic rearrangements, which were not observed in Japanese subjects, may
have arisen through point mutation, gene conversion, and unequal crossover events. It is likely that the rearrangement of
the AGP gene has often occurred in Africans.
Received: June 15, 2001 / Accepted: July 10, 2001 相似文献
7.
Germline mutations of the CDKN2 gene in UK melanoma families 总被引:4,自引:1,他引:4
Harland M; Meloni R; Gruis N; Pinney E; Brookes S; Spurr NK; Frischauf AM; Bataille V; Peters G; Cuzick J; Selby P; Bishop DT; Bishop JN 《Human molecular genetics》1997,6(12):2061-2067
Germline mutations in CDKN2 on chromosome 9p21, which codes for the cyclin
D kinase inhibitor p16, and more rarely, mutations in the gene coding for
CDK4, the protein to which p16 binds, underlie susceptibility in some
melanoma families. We have sequenced all exons of CDKN2 and analysed the
CDK4 gene for mutations in 27 UK families showing evidence of
predisposition to melanoma. Five different germline mutations in CDKN2 were
found in six families. Three of the mutations (Met53Ile, Arg24Pro and
23ins24) have been reported previously. We have identified two novel CDKN2
mutations (88delG and Ala118Thr) which are likely to be associated with the
development of melanoma, because of their co-segregation with the disease
and their likely functional effect on the CDKN2 protein. In binding assays
the protein expressed from the previously described mutation, Met53Ile, did
not bind to CDK4/CDK6, confirming its role as a causal mutation in the
development of melanoma. Ala118Thr appeared to be functional in this assay.
Arg24Pro appeared to bind to CDK6, but not to CDK4. No mutations were
detected in exon 2 of CDK4, suggesting that causal mutations in this gene
are uncommon. The penetrance of these mutant CDKN2 genes is not yet
established, nor is the risk of non-melanoma cancer to gene carriers.
相似文献
8.
Murine B cells stimulated with lipopolysaccharide (LPS) and interleukin (IL) 4 produce IgG1 and IgE, but synthesize IgG2a when stimulated with LPS and interferon-gamma. The cytokines, however, that regulate immunoglobulin (Ig) synthesis induced in normal B cells under antigen-driven major histocompatibility complex (MHC)-restricted conditions in the absence of potent B cell mitogens have not been fully elucidated. We and others have shown that under cognate MHC-restricted conditions, CD4+ T cell clones of the TH1 subset, which produce IL 2 and interferon-gamma, and T cell clones of the TH2 subset, which produce IL 4 and IL 5, are both capable of inducing anti-trinitrophenyl IgG plaque-forming cells. In this report we have examined in further detail the cytokine requirements for the induction of Ig synthesis in B cells cultured directly with TH1 and TH2 T cell clones. Using (a) TH2 clones that varied in the amount of IL 5 secreted, (b) a neutralizing monoclonal antibody against IL 5 and (c) T cell clones pretreated with cyclosporin A to inhibit cytokine secretion, we found that IL 5 was essential for induction of IgG1 synthesis by TH2 but not TH1 T cells. Although we demonstrated that IL 2 could actually up-regulate the synthesis of IL 5 by TH2 clones, the induction of IgG synthesis by TH2 clones was entirely independent of IL 2. In contrast, induction of IgG1 synthesis by TH1 clones was absolutely dependent upon the presence of IL 2 and was not affected by the presence of IL 5. Thus, these studies demonstrate the idea that at least two independent pathways exist for the induction of IgG1 synthesis, and that one of these pathways is IL 4/IL 5 dependent and the other IL 2 dependent. 相似文献
9.
Skin tumors induced in mice by initiation-promotion (2 microg DMBA-2 microg
TPA) protocols were found to be under multigenic control. Eighty- one N2
mice from the cross (BALB/cAnPt x SENCARA/Pt)F1 x SENCARA/Pt that were
either solidly resistant (no papillomas) or highly susceptible (> or = 7
papillomas/mouse) were subjected to a 'genome scan' using 89 microsatellite
markers to check for associations with susceptible and resistant
phenotypes. A locus on Chr 5 (Skts4) was found to control the
susceptibility of SENCARA/Pt mice and the resistance of BALB/cAnPt mice to
papilloma formation. In addition, higher than expected linkage scores were
seen for the markers D9Mit271, D11Mit268 and D12Mit56. Further work is
required to establish whether genes determining papilloma formation are
located in these regions of the genome. In general, no evidence was seen
for loss of heterozygosity in microsatellite markers on Chrs 5, 9 and 11 in
17 microdissected papillomas from (BALB/c x SENCARA)F1 hybrid mice.
相似文献
10.
Nakamura H Yuasa I Umetsu K Henke J Henke L Nanba E Kimura K 《International journal of legal medicine》2000,114(1-2):114-117
In a German paternity test, an alleged father was excluded only by reverse homozygosity of ORM1 phenotypes (mother ORM1 S, child ORM1 S and alleged father ORM1 F1) out of the 28 classical and DNA markers investigated. Without the ORM1 system the biostatistical probability of paternity was calculated to exceed 99.9999%. The intensity of the immunoprinted bands of the ORM1 protein for the child and alleged father after isoelectric focusing appeared to be reduced to about half. To identify a possible null allele, gene-specific amplification followed by single-strand conformation polymorphism and sequencing analyses were carried out. Deletion of one of the two copies of a 4 bp direct repeat sequence (GTCT) in exon 4 of the consensus sequence of ORM1*F1 was observed in the child and alleged father. Thus, the sharing of a rare mutant gene, ORM1*Q0köln, increased the probability of paternity. 相似文献