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Cosemans Nele Maljaars Jarymke Vogels Annick Holvoet Maureen Devriendt Koen Steyaert Jean Van Den Bogaert Kris Noens Ilse Peeters Hilde 《Neurogenetics》2021,22(3):207-213
neurogenetics - A de novo 0.95 Mb 8p21.3 deletion had been identified in an individual with non-syndromic autism spectrum disorder (ASD) through high-resolution copy number variant analysis.... 相似文献
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Bevilacqua Gregorio Jameson Karen A. Zhang Jean Bloom Ilse Ward Kate A. Cooper Cyrus Dennison Elaine M. 《Quality of life research》2021,30(7):1913-1924
Quality of Life Research - Social isolation has been associated with both physical and psychological adverse outcomes and is prevalent in older adults. We investigated the impact of social... 相似文献
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Maria ATC van der Loos Ilse Hellinga Mariska C Vlot Daniel T Klink Martin den Heijer Chantal M Wiepjes 《Journal of bone and mineral research》2021,36(5):931-941
Bone geometry can be described in terms of periosteal and endocortical growth and is partly determined by sex steroids. Periosteal and endocortical apposition are thought to be regulated by testosterone and estrogen, respectively. Gender-affirming hormone (GAH) treatment with sex steroids in transgender people might affect bone geometry. However, in adult transgender people, no change in bone geometry during GAH was observed. In this study, we investigated changes in bone geometry among transgender adolescents using a gonadotropin-releasing hormone agonist (GnRHa) and GAH before achieving peak bone mass. Transgender adolescents treated with GnRHa and subsequent GAH before the age of 18 years were eligible for inclusion. Participants were grouped based on their Tanner stage at the start of GnRHa treatment and divided into early, mid, and late puberty groups. Hip structure analysis software calculating subperiosteal width (SPW) and endocortical diameter (ED) was applied to dual-energy X-ray absorptiometry scans performed at the start of GnRHa and GAH treatments, and after ≥2 years of GAH treatment. Mixed-model analyses were performed to study differences over time. Data were visually compared with reference values of the general population. A total of 322 participants were included, of whom 106 were trans women and 216 trans men. In both trans women and trans men, participants resembled the reference curve for SPW and ED of the experienced gender but only when GnRHa was started during early puberty. Those who started during mid and late puberty remained within the reference curve of the gender assigned at birth. A possible explanation might be sought in the phenomenon of programming, which conceptualizes that stimuli during critical windows of development can have major consequences throughout one's life span. Therefore, this study adds insights into sex-specific bone geometry development during puberty of transgender adolescents treated with GnRHa, as well as the general population. © 2021 The Authors. Journal of Bone and Mineral Research published by American Society for Bone and Mineral Research. 相似文献
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Milla Valta Ahmad Mahfuz Gazali Tyyne Viisanen Emmi-Leena Ihantola Ilse Ekman Jorma Toppari Mikael Knip Riitta Veijola Jorma Ilonen Johanna Lempainen Tuure Kinnunen 《European journal of immunology》2020,50(4):581-588
Dysfunction of FOXP3-positive regulatory T cells (Tregs) likely plays a major role in the pathogenesis of multiple autoimmune diseases including type 1 diabetes (T1D). Whether genetic polymorphisms associated with the risk of autoimmune diseases affect Treg frequency or function is currently unclear. Here, we analysed the effect of T1D-associated major HLA class II haplotypes and seven single nucleotide polymorphisms in six non-HLA genes [INS (rs689), PTPN22 (rs2476601), IL2RA (rs12722495 and rs2104286), PTPN2 (rs45450798), CTLA4 (rs3087243), and ERBB3 (rs2292239)] on peripheral blood Treg frequencies. These were determined by flow cytometry in 65 subjects who had progressed to T1D, 86 islet autoantibody-positive at-risk subjects, and 215 islet autoantibody-negative healthy controls. The PTPN22 rs2476601 risk allele A was associated with an increase in total (p = 6 × 10−6) and naïve (p = 4 × 10−5) CD4+CD25+CD127lowFOXP3+ Treg frequencies. These findings were validated in a separate cohort comprising ten trios of healthy islet autoantibody-negative children carrying each of the three PTPN22 rs2476601 genotypes AA, AG, and GG (p = 0.005 for total and p = 0.03 for naïve Tregs, respectively). In conclusion, our analysis implicates the autoimmune PTPN22 rs2476601 risk allele A in controlling the frequency of Tregs in human peripheral blood. 相似文献
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Journal of Gastroenterology - As extra-intestinal manifestations (EIMs) are frequent in inflammatory bowel disease (IBD) and affect morbidity and sometimes even mortality, vigilance in the... 相似文献
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Ilse M. van der Werf Sandra Jansen Petra F. de Vries Amber Gerstmans Maartje van de Vorst Anke Van Dijck Bert B. A. de Vries Christian Gilissen Alexander Hoischen Lisenka E. L. M. Vissers R. Frank Kooy Geert Vandeweyer 《European journal of human genetics : EJHG》2020,28(12):1726
Upon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of these genes converge on common pathways and protein networks. Here, we used a reversed approach, by screening the AnkyrinG protein-protein interaction network for genetic variation in a large cohort of 1009 cases with neurodevelopmental disorders. We identified a significant enrichment of de novo potentially disease-causing variants in this network, confirming that this protein network plays an important role in the emergence of several neurodevelopmental disorders.Subject terms: Genetics research, Neurological disorders 相似文献
10.
Willaert Robin Shaheen Eman Deferm Julie Vermeersch Hubert Jacobs Reinhilde Mombaerts Ilse 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2020,258(7):1527-1532
Graefe's Archive for Clinical and Experimental Ophthalmology - Current methods to analyse the globe position, including Hertel exophthalmometry and computed tomography (CT), are limited to the... 相似文献