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排序方式: 共有435条查询结果,搜索用时 31 毫秒
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Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2 总被引:2,自引:0,他引:2
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Baser ME Kuramoto L Woods R Joe H Friedman JM Wallace AJ Ramsden RT Olschwang S Bijlsma E Kalamarides M Papi L Kato R Carroll J Lázaro C Joncourt F Parry DM Rouleau GA Evans DG 《Journal of medical genetics》2005,42(7):540-546
Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other types of mutations; the cause of this variability is unknown. We evaluated genotype-phenotype correlations, with particular focus on the location of splice site mutations, using mutation and clinical information on 831 patients from 528 NF2 families with identified constitutional NF2 mutations. The clinical characteristics examined were age at onset of symptoms of NF2 and number of intracranial meningiomas, which are the primary indices of the severity of NF2. Two regression models were used to analyse genotype-phenotype correlations. People with splice site mutations in exons 1–5 had more severe disease than those with splice site mutations in exons 11–15. This result is compatible with studies showing that exons 2 and 3 are required for self-association of the amino terminal of the NF2 protein in vitro, and that deletions of exons 2 and 3 in transgenic and knockout mouse models of NF2 cause a high prevalence of Schwann cell derived tumours. 相似文献
4.
Lim DJ Rubenstein AE Evans DG Jacks T Seizinger BG Baser ME Beebe D Brackmann DE Chiocca EA Fehon RG Giovannini M Glazer R Gusella JF Gutmann DH Korf B Lieberman F Martuza R McClatchey AI Parry DM Pulst SM Ramesh V Ramsey WJ Ratner N Rutkowski JL Ruttledge M Weinstein DE 《Journal of neurogenetics》2000,14(2):63-106
5.
Analysis of depressed cell-mediated immunity in asbestos workers 总被引:1,自引:0,他引:1
R D deShazo J Nordberg Y Baser B Bozelka H Weill J Salvaggio 《The Journal of allergy and clinical immunology》1983,71(4):418-424
To explore the mechanisms of asbestos-related perturbations of the immune system, we evaluated the in vitro cell-mediated immunity of five asymptomatic asbestos workers with hypergammaglobulinemia and decreased T-cell numbers. These results were compared with those in 10 matched controls. Analysis of T-lymphocyte populations revealed decreased absolute numbers of OKT4+ (helper/inducer) T cells in the peripheral blood and phytohemagglutinin (PHA)-stimulated mononuclear cell cultures of the workers. When chrysotile asbestos was added to PHA cultures, expansion of OKT4+ cell populations was disproportionately inhibited in workers' cultures. Furthermore, control proliferative responses to PHA became indistinguishable from initial worker responses. These effects were incompletely explained by the cytotoxic effects of asbestos on cultured lymphocytes. We conclude that both in vivo and in vitro exposure of mononuclear cell populations to asbestos may lead to a diminution of helper-inducer T-cell numbers. In asbestos-exposed individuals, this latter lymphocyte subpopulation appears to be especially sensitive to in vitro asbestos exposure. Although the clinical implications of these findings are unclear, we hypothesize that many of the immunologic abnormalities that occur in asbestos workers could be explained by direct asbestos effects on the OKT4+ immunoregulatory population. 相似文献
6.
Sainz J Baser ME Ragge NK Nelson RA Pulst SM 《Archives of otolaryngology--head & neck surgery》1993,119(12):1285-1288
OBJECTIVE: Using highly informative microsatellite markers flanking the neurofibromatosis type 2 gene, we determined the frequency of chromosome 22 allele loss in vestibular schwannomas. DESIGN: Peripheral lymphocyte/vestibular schwannoma DNA pairs were analyzed with five different microsatellite markers on chromosome 22. PATIENTS: Samples were taken from 32 patients (17 females and 15 males). Twenty-seven tumors occurred sporadically, and five were from patients with neurofibromatosis type 2. RESULTS: Using the microsatellite markers D22S351, CRYB2, D22S268, D22S304, and interleukin type 2RP3, we found loss of heterozygosity for at least two markers in 12 tumors. Ten tumors showed loss of heterozygosity for markers flanking the neurofibromatosis type 2 gene. Although microsatellite markers require little DNA for analysis and are highly informative, allele patterns may be difficult to interpret in some cases. CONCLUSIONS: Loss of heterozygosity of chromosome 22 alleles was a frequent event in vestibular schwannomas. In 10 tumors, heterozygosity was lost for centromeric and telomeric markers indicating likely monosomy 22. However, 63% of tumors did not reveal a detectable chromosomal loss. Unless a second vestibular schwannoma locus exists, these tumors likely harbor point mutations in the neurofibromatosis type 2 gene or deletions below the level of resolution of the markers used in this study. 相似文献
7.
Water distilled essential oils of five annual Sideritis species collected from different regions of Turkey were analysed by GC/MS. Results are tabulated and compared with main components of the essential oils of perennial Sideritis species from Turkey. 相似文献
8.
Furkan Ufuk Muhammed Raşid Aykota 《The American journal of emergency medicine》2019,37(3):560.e5-560.e6
Simple bone cyst (SBC) also known as unicameral bone cyst is a benign, radiolucent bone lesion that is seen commonly in childhood. These lesions are usually found incidentally although pain and swelling can be seen. The most common complication is a pathological fracture, and this is often the cause of presentation. Here, we present a 22-year-old male with right lower quadrant pain due to SBC related pathological fracture of right iliac bone which is mimicking acute appendicitis. 相似文献
9.