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排序方式: 共有4163条查询结果,搜索用时 20 毫秒
41.
Cunliffe SL Wyer JR Sutton JK Lucas M Harcourt G Klenerman P McMichael AJ Kelleher AD 《European journal of immunology》2002,32(12):3366-3375
Reliable, efficient systems for producing soluble HLA-DR molecules, suitable for multimerization and use as staining reagents, have proved elusive. We found that the addition of a flexible linker between peptide and N terminus of the DRB1*0101-chain (Crawford, F., Kozono, H., White, J., Marrack, P. and Kappler, J., Immunity 1998. 8: 675-682.), results in greater in vitro folding efficiency of Escherichia coli-expressed alpha- and beta-chains, and increases both the yield and stability of the DRA1*0101/DRB1*0101/peptide complexes. Although a 10-amino acid linker functioned efficiently for a 20mer epitope from HIV p24, a longer linker was required to produce a DR1 MHC class II tetramer with the influenza hemagglutinin epitope (HA(306-318)). The DR1-HA tetramer was able to stain positively over 98% of a specific clone (HA 1.7) with only a brief 30-min incubation. The tetrameric complexes detected clone cells diluted into PBMC, with high sensitivity, coupled with low background staining in CD4(+) cells. It was possible to detect antigen-specific CD4(+) T cells within a population of PBMC stimulated with the HA peptide. This demonstrates the potential to monitor CD4(+) T cell responses in peripheral blood in a number of clinical scenarios. 相似文献
42.
Maria L. Dentici Vittorio Maglione Emanuele Agolini Gino Catena Rossella Capolino Valentina Lanari Antonio Novelli Lorenzo Sinibaldi Davide Vecchio Michaela V. Gonfiantini Marina Macchiaiolo Maria C. Digilio Bruno Dallapiccola Andrea Bartuli 《American journal of medical genetics. Part A》2020,182(8):1977-1984
The tubulinopathies refer to a wide range of brain malformations caused by mutations in one of the seven genes encoding different tubulin's isotypes. The β‐tubulin isotype III (TUBB3) gene has a primary function in nervous system development and axon generation and maintenance, due to its neuron‐specific expression pattern. A recurrent heterozygous mutation, c.1228G > A; p.E410K, in TUBB3 gene is responsible of a rare disorder clinically characterized by congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual disability and a wide range of neurological and endocrine abnormalities. Other mutations have been described spanning the entire gene and genotype–phenotype correlations have been proposed. We report on a 3‐year‐old boy in whom clinical exome sequencing allowed to identify a de novo TUBB3 E410K mutation as the molecular cause underlying a complex phenotype characterized by a severe bilateral palpebral ptosis refractory to eye surgery, psychomotor delay, absent speech, hypogonadism, celiac disease, and cyclic vomiting. Brain MRI revealed thinning of the corpus callosum with no evidence of malformation cortical dysplasia. We reviewed available records of patients with TUBB3 E410K mutation and compared their phenotype with the clinical outcome of patients with other mutations in TUBB3 gene. The present study confirms that TUBB3 E410K results in a clinically recognizable phenotype, unassociated to the distinct cortical dysplasia caused by other mutations in the same gene. Early molecular characterization of TUBB3 E410K syndrome is critical for targeted genetic counseling and prompt prospective care in term of neurological, ophthalmological, endocrine, and gastrointestinal follow‐up. 相似文献
43.
Dubaniewicz A Jamieson SE Dubaniewicz-Wybieralska M Fakiola M Nancy Miller E Blackwell JM 《European journal of human genetics : EJHG》2005,13(7):829-834
Sarcoidosis (SA) is a systemic granulomatous disorder of unknown etiology characterized by T helper 1-type inflammatory responses at sites of disease with signs of B cell hyperactivity. Like rheumatoid arthritis and diabetes, an infectious etiology has frequently been postulated but no single infectious trigger definitively identified. Polymorphic alleles at SLC11A1 have previously been associated with susceptibility to both the putative infectious agents and to these autoimmune disorders. We therefore investigated its candidacy as a genetic determinant of SA in Poland in an association-based study comparing 86 SA patients with 85 tuberculosis (TB) patients and 93 control subjects. The functional promoter (GT)(n) polymorphism and four of 10 other single nucleotide or insertion/deletion polymorphisms genotyped across SLC11A1 were informative in our sample. Consistent with previous autoimmune disease studies, allele 3 at the functional (GT)(n) promoter region repeat polymorphism was significantly associated with SA when compared with healthy controls (odds ratio 1.68; 95% CI: 1.01-2.81; P=0.04) or with TB patients (odds ratio 1.69; 95% CI: 1.042-0.78; P=0.03). 相似文献
44.
Mansi Vijaybhai Dhami Felix Akpojene Ogbo Blessing Jaka Akombi-Inyang Raphael Torome Kingsley Emwinyore Agho 《Nutrients》2021,13(3)
Despite efforts to promote infant and young child feeding (IYCF) practices, there is no collective review of evidence on IYCF enablers and barriers in India. This review was conducted using 2015 Preferred Reporting Items for Systematic reviews and Meta-Analysis (PRISMA) guidelines. Six computerized bibliographic databases, Scopus, PubMed, PsycINFO, CINAHL, Embase, and Ovid MEDLINE, were searched for published studies on factors associated with IYCF practices in India from 1 January 1993, to 30 April 2020. IYCF practices examined were early initiation of breastfeeding, exclusive breastfeeding, continued breastfeeding at one year, introduction to solid semi-solid or soft foods, minimum dietary diversity, minimum meal frequency, minimum acceptable diet, continued breastfeeding at two years, predominant breastfeeding, and bottle feeding. In total, 6968 articles were retrieved, and 46 studies met the inclusion criteria. The common enablers of IYCF were higher maternal socioeconomic status (SES) and more frequent antenatal care visits (ANC) (≥3). Common barriers to IYCF practices were low SES and less frequent ANC. The review showed that the factors associated with IYCF practices in India are largely modifiable and multi-factorial. Improving IYCF practices would require the adoption of both facilities- and community-based policy interventions at the subnational and national levels in India. 相似文献
45.
46.
Jarmila Kruseová Jelena Černíková Marina Zámečníková Lucie Hřivnová Stanislava Koloušková Michaela Čepelová Edita Kabíčková Václav Čapek Aleš Lukš Tomáš Eckschlager 《Andrologia》2021,53(1):e13853
The objective of this study was to compare semen quality (sperm density, progressive motility and spermia) between long-term childhood cancer survivors and a control group of males. The second objective was to correlate the semen analysis of the survivors with cancer treatment and endocrine status. The semen quality of 143 survivors (median age, 23.6 years) was compared to 200 men (median age, 27.9 years) who had not been diagnosed with cancer. The cancer-related risk factors and gonadotrophin levels were compared. Overall, 65% of the survivors had abnormal semen analysis compared to 26.5% of the controls (p < 0.0001). Survivors with nonaspermia had lower sperm density than the controls (p < 0.001). Other observed correlations were not significant. Survivors who were treated with alkylating agents were more likely to have abnormal semen analysis (p < 0.008). Follicle-stimulating hormone and luteinising hormone levels were significantly elevated (p < 0.0001) in survivors with abnormal semen analysis. The semen quality parameters, except for low sperm density, did not differ in survivors with nonaspermia compared to the controls. The risk factors included treatment with alkylating agents. Elevated gonadotrophin levels correlated with abnormal semen analysis. All cancer survivors should be made aware of the possibility of suffering from cancer treatment-related infertility. 相似文献
47.
Peciu-Florianu Iulia Régis Jean Levivier Marc Dedeciusova Michaela Reyns Nicolas Tuleasca Constantin 《Neurosurgical review》2021,44(5):2391-2403
Neurosurgical Review - Trigeminal nerve schwannomas (TS) are uncommon intracranial tumors, frequently presenting with debilitating trigeminal and/or oculomotor nerve dysfunction. While surgical... 相似文献
48.
Mariah Farrell Heather Fairfield Samantha Costa Anastasia D'Amico Carolyne Falank Daniel J Brooks Michaela R Reagan 《Journal of bone and mineral research》2021,36(1):158-169
Obesity, a growing pandemic, is a risk factor for many cancers and causes increased bone marrow adipose tissue (BMAT). in vitro studies and obese animal models suggest that BMAT contributes to cancer progression, but there is a lack of preclinical models to directly test BMAT's role in cancer. Overactivation of peroxisome-proliferator-activated receptor-γ (PPARγ) can skew bone formation and resorption rates, resulting in increased BMAT and trabecular bone loss. Thiazolidinediones (eg, rosiglitazone) are anti-diabetic therapies that promote adipogenesis through PPARγ activation. We investigated if rosiglitazone increases BMAT in an immunocompromised model, commonly used in cancer research, and if these effects could be reversed by co-administering a bone anabolic agent (sclerostin-neutralizing antibody [Scl-Ab]), which has been shown to inhibit adipogenesis, using DXA, μCT, OsO4 μCT, and dynamic histomorphometry. Four weeks of rosiglitazone in female SCID Beige mice (cohort 1) significantly decreased trabecular bone volume (BV/TV) by about one-half, through increased osteoclast and suppressed osteoblast activity, and significantly increased BMAT. In cohort 2, mice were administered rosiglitazone ± Scl-Ab for 4 weeks, and then rosiglitazone was discontinued and Scl-Ab or vehicle were continued for 6 weeks. Scl-Ab significantly increased bone parameters (eg, BV/TV, N.Ob/B.Pm, and MS/BS) in both groups. Scl-Ab also overcame many negative effects of rosiglitazone (eg, effects on trabecular bone parameters, increased mineralization lag time [MLT], and decreased bone formation rate [BFR]). Interestingly, Scl-Ab significantly decreased rosiglitazone-induced BMAT in the femur, mostly due to a reduction in adipocyte size, but had a much weaker effect on tibial BMAT. These data suggest targeting sclerostin can prevent rosiglitazone-induced bone loss and reduce BM adiposity, in some, but not all BMAT locations. Collectively, our data demonstrate that rosiglitazone increases BMAT in SCID Beige mice, but concomitant changes in bone may confound its use to specifically determine BMAT's role in tumor models. © 2020 American Society for Bone and Mineral Research (ASBMR). 相似文献
49.
Michaela Gaffley Lucas P. Neff Leah M. Sieren Kristen A. Zeller Thomas Pranikoff Tammy Rush John K. Petty 《Journal of pediatric surgery》2021,56(2):297-301
PurposeAbout half of pediatric blunt trauma patients undergo an abdominopelvic computed tomographic (CT) scan, while few of these require intervention for an intraabdominal injury. We evaluated the effectiveness of an evidence-based guideline for blunt abdominal trauma at a Level I pediatric trauma center.MethodsPediatric blunt trauma patients (n = 998) age 0–15 years who presented from the injury scene were evaluated over a 10 year period. After five years, we implemented our guideline in which the decision for CT was standardized based on mental status, abdominal examination, and laboratory results (alanine aminotransferase, aspartate aminotransferase, hemoglobin, urinalysis).ResultsThere were no differences in age, GCS, SIPA or ISS scores between the patients before or after guideline implementation. Nearly half of the patients (48.3%) underwent CT scan before guideline implementation compared to 36.7% after (p < 0.0002). There was no difference in ISS (p = 0.44) between CT scanned patients in either group. No statistical differences were found in rate of intervention (p = 0.20), length of stay (p = 0.65), or readmission rate (0.2%) before versus after guideline implementation. There were no missed injuries.ConclusionImplementation of an evidence-based clinical guideline for pediatric patients with blunt abdominal trauma decreases the rate of CT utilization while accurately identifying significant injuries.Level of evidenceIII. 相似文献
50.
Maggie E. Bosley Michaela W. G. Gaffley Kristen A. Zeller Leah M. Sieren John K. Petty Thomas Pranikoff Lucas P. Neff 《Journal of pediatric surgery》2021,56(4):825-828
The management of choledocholithiasis in children and teenagers is often a two-procedure process with laparoscopic cholecystectomy (LC) and either pre- or post-operative endoscopic retrograde cholangiopancreatography (ERCP). The addition of laparoscopic common bile duct exploration (LCBDE) during LC can provide definitive treatment for choledocholithiasis during a single anesthetic event. In an effort to minimize sedation and radiation exposure from fluoroscopy, we have employed dilating balloons via a transcystic approach to stretch the sphincter of Oddi with subsequent ductal flushing. We describe the technique of balloon sphincteroplasty as a straightforward adjunct within the pediatric surgeon's skill set to manage choledocholithiasis during LC and our clinical experience. 相似文献