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排序方式: 共有1744条查询结果,搜索用时 140 毫秒
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D. Galimberti D. Scalabrini C. Fenoglio C. Comi M. De Riz E. Venturelli C. Lovati C. Mariani F. Monaco N. Bresolin E. Scarpini 《European journal of neurology》2007,14(2):162-167
CXCL10 (interferon- γ -inducible protein-10) levels are increased in cerebrospinal fluid of multiple sclerosis (MS) patients with symptomatic attacks of inflammatory demyelination, supporting a role for this molecule in MS pathogenesis. Two hundred and twenty-six patients with MS and 235 controls were genotyped for G → C and T → C single nucleotide polymorphisms (SNPs) in exon 4 of CXCL10 gene. Haplotypes were tested for association and correlated with clinical variables. The two SNPs studied were in complete linkage disequilibrium. None of the determined haplotypes was associated with MS. However, carriers of the GGTT haplotype (defined as wild type, according to the sequence in National Centre for Biotechnology Information (NCBI) database) had a significantly lower progression index than non-carriers ( P = 0.016). Furthermore, amongst patients who had an initial relapsing remitting (RR) course of the disease, the time between onset and second episode was significantly longer in GGTT carriers ( P = 0.021). Considering secondary progressive (SP)–MS patients, the time between the initial RR form and the subsequent worsening to SP was longer in this group ( P = 0.08). Therefore, the GGTT haplotype of the CXCL10 gene is not a susceptibility factor for the development of MS, but is probably to influence the course of MS, possibly contributing to slow down the progression of the disease. 相似文献
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Clone-based systematic haplotyping (CSH): a procedure for physical haplotyping of whole genomes 总被引:4,自引:0,他引:4 下载免费PDF全文
Burgtorf C Kepper P Hoehe M Schmitt C Reinhardt R Lehrach H Sauer S 《Genome research》2003,13(12):2717-2724
We present a novel methodology to determine the phase of single-nucleotide polymorphisms (SNPs) on a chromosome, which we term clone-based systematic haplotyping (CSH). The CSH procedure is based on separating the allelic chromosomes of a diploid genome by fosmid/cosmid cloning, and subsequent SNP typing of 96 clone pools, each representing approximately 10% of the genome. The pools are screened by PCR for the sequence of interest, followed by SNP typing on the PCR products using the GOOD assay. We demonstrate that by CSH, the haplotype of SNPs separated by more than 50 kilobases can definitely be assigned. We propose this method as being suitable for constructing maps of ancestral haplotypes, analysis of complex diseases, and for diagnosis of rare defects in which the molecular haplotype is crucial. In addition, by amplifying the initial DNA by many orders of magnitude, the original DNA resource is effectively immortalized, enabling the haplotyping of hundreds of thousands of SNPs per individual. 相似文献
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Lena Möbus Elke Rodriguez Inken Harder Agatha Schwarz Ulrike Wehkamp Dora Stölzl Nicole Boraczynski Sascha Gerdes Thomas Litman Andreas Kleinheinz Susanne Abraham Annice Heratizadeh Christiane Handrick Eva Haufe Jochen Schmitt Thomas Werfel Stephan Weidinger 《The Journal of allergy and clinical immunology》2021,147(5):1959-1965.e2
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Chiara Fenoglio Daniela Galimberti Laura Piccio Diego Scalabrini Paola Panina Cecilia Buonsanti Eliana Venturelli Carlo Lovati Gianluigi Forloni Claudio Mariani Nereo Bresolin Elio Scarpini 《Neuroscience letters》2007
Triggering Receptor Expressed on Myeloid cells (TREM)2 deficiency originates a genetic syndrome characterized by bone cysts and presenile dementia, named Nasu-Hakola disease (NHD). Early onset dementia and marked involvement of frontal regions are features characterizing both NHD and other kinds of neurodegenerative disorders, such as Frontotemporal Lobar Degeneration (FTLD), and, in some cases, Alzheimer's disease (AD). Three Single Nucleotide Polymorphisms (SNPs) in TREM2 coding region were screened by allelic discrimination in a population of probable AD patients as well as FTLD patients as compared with age-matched controls. In addition, mutation scanning of the coding region of TREM2 gene was carried out in 7 patients with early onset AD (EOAD), 16 FTLD, and 20 controls. None of the SNPs analyzed was present, either in patients or controls. Moreover, mutation scanning of the five exons of TREM2 failed to detect the presence of novel polymorphisms. These data demonstrate that TREM2 coding region is highly conserved, implying a crucial role of this receptor. Further studies, including a functional analysis, are certainly required to clarify the role of TREM2 in neurodegenerative processes. 相似文献
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Hordijk José A. Verbruggen Sascha C. Buysse Corinne M. Utens Elisabeth M. Joosten Koen F. Dulfer Karolijn 《Quality of life research》2022,31(9):2615-2617
Quality of Life Research - 相似文献
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Asher Y. Rosinger Samantha M. Olson Sascha R. Ellington Janice Perez-Padilla Regina M. Simeone Caitlin S. Pedati Betsy A. Schroeder Gilberto A. Santiago Freddy A. Medina Jorge L. Muoz-Jordn Laura E. Adams Romeo R. Galang Miguel Valencia-Prado Sonia Bakkour Candimar Coln Mary Goodwin Dana Meaney-Delman Jennifer S. Read Lyle R. Petersen Denise J. Jamieson Carmen C. Deseda Margaret A. Honein Brenda Rivera-García Carrie K. Shapiro-Mendoza 《Emerging infectious diseases》2021,27(5):1505
We evaluated nucleic acid amplification testing (NAAT) for Zika virus on whole-blood specimens compared with NAAT on serum and urine specimens among asymptomatic pregnant women during the 2015–2016 Puerto Rico Zika outbreak. Using NAAT, more infections were detected in serum and urine than in whole blood specimens. 相似文献
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Carolin Lepa Sascha Hoppe Antje Stber Boris V. Skryabin Laura Katharina Sievers Barbara Heitplatz Giuliano Ciarimboli Ute Neugebauer Maja T. Lindenmeyer Clemens D. Cohen Hannes C.A. Drexler Peter Boor Thomas Weide Hermann Pavenstdt Britta George 《Journal of the American Society of Nephrology : JASN》2021,32(2):357
BackgroundInjury to kidney podocytes often results in chronic glomerular disease and consecutive nephron malfunction. For most glomerular diseases, targeted therapies are lacking. Thus, it is important to identify novel signaling pathways contributing to glomerular disease. Neurotrophic tyrosine kinase receptor 3 (TrkC) is expressed in podocytes and the protein transmits signals to the podocyte actin cytoskeleton.MethodsNephron-specific TrkC knockout (TrkC-KO) and nephron-specific TrkC-overexpressing (TrkC-OE) mice were generated to dissect the role of TrkC in nephron development and maintenance.ResultsBoth TrkC-KO and TrkC-OE mice exhibited enlarged glomeruli, mesangial proliferation, basement membrane thickening, albuminuria, podocyte loss, and aspects of FSGS during aging. Igf1 receptor (Igf1R)–associated gene expression was dysregulated in TrkC-KO mouse glomeruli. Phosphoproteins associated with insulin, erb-b2 receptor tyrosine kinase (Erbb), and Toll-like receptor signaling were enriched in lysates of podocytes treated with the TrkC ligand neurotrophin-3 (Nt-3). Activation of TrkC by Nt-3 resulted in phosphorylation of the Igf1R on activating tyrosine residues in podocytes. Igf1R phosphorylation was increased in TrkC-OE mouse kidneys while it was decreased in TrkC-KO kidneys. Furthermore, TrkC expression was elevated in glomerular tissue of patients with diabetic kidney disease compared with control glomerular tissue.ConclusionsOur results show that TrkC is essential for maintaining glomerular integrity. Furthermore, TrkC modulates Igf-related signaling in podocytes. 相似文献