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101.
Since its discovery, human parvovirus B19 has been linked with a broad spectrum of clinical syndromes. An aetiological role for the virus has been confirmed in erythema infectiosum, transient aplastic crisis, persistent infection manifesting as pure red cell aplasia in immunocompromised persons, non-immune hydrops fetalis and arthritis. Less commonly recognised, but receiving increasing attention recently, are the neurological manifestations, a variety of which have been described in patients with either clinically diagnosed or laboratory confirmed B19 infection. The purpose of this review is to summarise present knowledge of B19, its known and potential pathogenic mechanisms and its association with human diseases, particularly those with neurological manifestations. The outcome of the review supports an aetiological role of the virus in neurological disease. However, the pathogenesis remains unknown and elucidating this is a priority. 相似文献
102.
Peter Cresswell Anne L. Ackerman Alessandra Giodini David R. Peaper Pamela A. Wearsch 《Immunological reviews》2005,207(1):145-157
Summary: In this review, we discuss recent data from our laboratory that address two aspects of major histocompatibility complex (MHC) class I‐restricted antigen processing. First, we consider the nature of the peptide‐loading complex, which is the assembly of proteins in the endoplasmic reticulum (ER) into which newly synthesized MHC class I‐β2 microglobulin (β2m) heterodimers are incorporated, and the mechanisms involved in MHC class I assembly and peptide loading that are facilitated by the peptide‐loading complex. Second, we discuss mechanisms of cross‐presentation, the phenomenon whereby extracellular and luminal protein antigens can be processed by antigen‐presenting cells, particularly dendritic cells, and presented by MHC class I molecules to CD8+ T cells. The focus of the discussion is mainly on the human MHC class I system. 相似文献
103.
Janice S. Lee Carol W. Bassim Harvey Kushner Ann G. Carr Pamela J. Gardner Laura A. Harney Kris Ann P. Schultz Douglas R. Stewart 《American journal of medical genetics. Part A》2019,179(9):1820-1825
Pathogenic germline variation in the microRNA processing gene DICER1 gives rise to an autosomal dominant, tumor‐predisposition disorder. Conditional deletion of Dicer1 in murine dental epithelium shows that it controls tooth patterning, size, number, and shape. The human dental phenotype of people with germline pathogenic variation in DICER1 is unknown. DICER1‐carriers (n = 57) and family controls (n = 55) were evaluated at the NIH Clinical Center dental clinic as part of a comprehensive medical evaluation. Digital panoramic radiographs, bite‐wing radiographs, and oral photographs were collected. A single observer, blind to DICER1 status, reviewed the dental records and determined the presence or absence of 11 dental characteristics as described in the clinic notes, radiographs, or oral photographs. Subjective phenotypes were reviewed on radiographs by two examiners (blind to DICER1 status) for the presence or absence of the dental characteristics to reduce inconsistencies. By simple association, bulbous crown, periodontitis, and taurodontism were all significant (p < .05). Logistic regression with chi‐square maximum likelihood estimates showed that bulbous crown and periodontitis remained significant. Recognition of these phenotypes may aid identification of individuals and families at risk for DICER1‐associated neoplasms. These findings may also guide dental care for individuals with germline DICER1 pathogenic variation. 相似文献
104.
Mario DeMarchi Iolanda Borelli Eleonora Olivetti Patricia Richiardi Pamela Wright Nicoletta Ansaldi Cristiana Barbera Bruna Santini 《Tissue antigens》1979,14(4):309-316
A group of 45 children affected with Coeliac Disease (CD) was typed for HLA-A, B, C, D, and DR specificities. The most significant associations were found with two alleles of the D series, with both cellular and serological typing. It is suggested that the susceptibility to CD is determined by two different genes within the HLA region, the first in common with organ-specific autoimmune diseases and associated with DW3, the second possibly specific for CD and associated with Dw7. 相似文献
105.
Wong Jasin Ezeife Nnaemezie Kudla Angelika Crown Deborah Trierweiler Robert Capraro Pamela Tomazin Stephanie Su Han Pham Tri Heinemann Allen W. 《Journal of occupational rehabilitation》2022,32(3):464-472
Journal of Occupational Rehabilitation - Purpose The COVID-19 pandemic has disproportionately affected the lives of people with disabilities (PWD). How the pandemic affects the employment of PWD... 相似文献
106.
Anderson Madison D. Merkin Sharon Stein Everson-Rose Susan A. Widome Rachel Seeman Teresa Magnani Jared W. Rodriguez Carlos J. Lutsey Pamela L. 《Journal of immigrant and minority health / Center for Minority Public Health》2021,23(4):668-668
Journal of Immigrant and Minority Health - The original version of this article unfortunately contained a typo in co-author name. 相似文献
107.
Wong Jasin Kallish Natasha Crown Deborah Capraro Pamela Trierweiler Robert Wafford Q. Eileen Tiema-Benson Laurine Hassan Shahzeb Engel Edeth Tamayo Christina Heinemann Allen W. 《Journal of occupational rehabilitation》2021,31(3):474-490
Journal of Occupational Rehabilitation - Purpose We aimed to identify job accommodations that help persons with physical disabilities maintain or return to work and explore the barriers and... 相似文献
108.
109.
Vikas S. Gupta Amir M. Khan Ashley H. Ebanks Pamela A. Lally Kevin P. Lally Matthew T. Harting 《Journal of pediatric surgery》2021,56(4):697-699
PurposeThere is a known association between Cornelia de Lange syndrome (CdLS) and congenital diaphragmatic hernia (CDH), with CDH being the cause of death in 5%–20% of CdLS cases. We aimed to identify and describe patients with CDLS and CDH. We hypothesized that CdLS would be associated with high-risk CDH and poor outcomes.MethodsCDH Study Group patients from 1995 to 2019 were included. Those with CdLS were reviewed retrospectively. Rates of repair and outcomes were compared between patients with and without CdLS.ResultsWe identified 9,251 CDH patients. Of those, 21 had confirmed CdLS. CdLS patients had a lower birth weight (2.2 ± 0.57 kg) than non-CdLS patients (2.9 ± 0.64 kg) (p < 0.001). 5-min Apgar scores were lower in CdLS patients (6, 4–7) than non-CdLS patients (7, 5–8) (p = 0.014). Only 33% of CdLS patients underwent diaphragmatic repair compared to 84.2% of non-CdLS patients (p < 0.001). Mortality was 76% for CdLS patients compared with 29% for non-CdLS patients (p < 0.001). Of the 7 CdLS patients who underwent repair, 5 survived to hospital discharge.ConclusionsInfants with CdLS and CDH have a poor prognosis. However, CdLS patients who undergo repair can survive to discharge; therefore, the concomitant diagnosis of CdLS and CDH is not necessarily a contraindication to repair. Early recognition of these anomalies can assist with counseling and prognostication.Type of studyRetrospective comparative studyLevel of evidenceIII 相似文献
110.
Annie N Apple Kevin E Neuzil Hannah M Phelps Bingshan Li Harold N Lovvorn III 《Journal of pediatric surgery》2021,56(6):1135-1141
BackgroundWilms tumor (WT) affects Black children disproportionately. Genetic aberrations within WT specimens that contribute to this disparity have not been reported.MethodsThe Therapeutically Applied Research to Generate Effective Treatments (TARGET) database was queried for WT patient and genomic features. Clinical and genetic variables were compared by race.ResultsWithin the discovery set (enriched for adverse events; N = 94 White, 19 Black, 14 Other/unreported patients), Black children were more likely to present with advanced stage disease (p = 0.019). Within the validation set (primarily a random sampling of NWTS-5; N = 360 White, 92 Black, 72 Other/Unreported), Black children appeared older at diagnosis (p = 0.050), had decreased median follow-up time (p<0.0005) and were over-represented (17.4%) relative to the concurrent U.S. Census (12.8%). Among the 37 target genes sequenced, ACTB (p = 0.030) and DICER1 (p = 0.026) mutations were more common in Black patient specimens, whereas DGCR8 (p = 0.041) mutations were more common in White patient specimens. White patient specimens were more likely to contain one or multiple targeted mutations (p = 0.026).ConclusionWithin the TARGET database, Black children were over-represented and harbored WT specimens containing more frequent ACTB and DICER1 mutations. In contrast, WT from White children contained overall more mutations in targeted genes and specifically in DGCR8.Level of EvidenceIII. 相似文献