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111.
Shaharir Syahrul Sazliyana Sulaiman Sahari Narisa Mohamed Fuad Zeena Zukiman Wan Zul Haikal Wan Mohd Yusof Nurul Hafizah Sulong Anita Periasamy Petrick 《Clinical rheumatology》2018,37(3):837-847
Clinical Rheumatology - Non-tuberculous mycobacteria (NTM) are recognized as an important cause of human diseases and infections. It is commonly known to cause infections of the skin, soft tissue... 相似文献
112.
A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin
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Fuad Al Mutairi MD Fatema Alzahrani BSc Farouq Ababneh MD Amna A. Kashgari MD Fowzan S. Alkuraya MD 《Annals of neurology》2018,83(2):433-436
Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian forms of NTDs in which single variants are sufficient to cause the disease are extremely rare. We report a monozygotic twin with severe NTDs (occipital encephalocele and myelomeningocele) and a shared de novo, likely truncating, variant in SMARCC1. RTPCR analysis suggests the potential null nature of the variant attributed to nonsense‐mediated decay. SMARCC1 is extremely constrained in humans and encodes a highly conserved core chromatin remodeler, BAF155. Mice that are heterozygous for a null allele or homozygous for a hypomorphic allele develop severe NTDs in the form of exencephaly. This is the first report of SMARCC1 mutation in humans, and it shows a critical and conserved requirement for intact BAF chromatin remodeling complex in neurulation. Ann Neurol 2018;83:433–436 相似文献
113.
John Paul Haydek Cesar Taborda Rushikesh Shah Preeti A Reshamwala Morgan L McLemore Fuad El Rassi Saurabh Chawla 《World journal of hepatology》2019,11(3):287-293
BACKGROUND Sickle cell disease(SCD) is a disorder that results in increased hospitalizations and higher mortality. Advances in management have resulted in increases in life expectancy and led to increasing awareness of sickle cell hepatopathy(SCH).However, its impact in patients on the natural history and outcomes of SCD is not known. Our study aims to describe the prevalence of extreme hyperbilirubinemia(EH), one form of SCH, its effect on morbidity and mortality,and correlations between sickle cell genotype and SCH type. We hypothesize that EH is associated with higher morbidity and mortality.AIM To investigate the effects of EH on morbidity and mortality among patients with SCD.METHODS This retrospective cohort study was performed using a database of patients with SCD treated at Grady Memorial Hospital between May 2004 and January 2017.Patients with EH(defined as total bilirubin above 13.0 mg/dL) were identified. A control group was identified from the same database with patients with total serum bilirubin ≤ 5.0 mg/dL. Electronic medical records were used to extract demographic information, laboratory values, radiology results, current medications, need for transfusions and mortality data. Two samples T-test, chi-squared test and Fisher's exact test were then used to compare the parameters between the two groups.RESULTS Out of the database, fifty-seven charts were found of patients with bilirubin 13 mg/dL. Prevalence of severe SCH as defined by EH was 4.8%(57/1172). There were no demographic differences between patients with and without EH.Significant genotypic differences existed between the two groups, with hemoglobin SS SCD being much higher in the EH group(P 0.001). Patients with severe EH had a significant elevations in alanine aminotransferase(157.0 ± 266.2 IU/L vs 19.8 ± 21.3 IU/L, P 0.001), aspartate aminotransferase(256.5 ± 485.9 U/L vs 28.2 ± 14.7 U/L, P 0.001) and alkaline phosphatase(218.0 ± 176.2 IU/L vs 85.9 ± 68.4 IU/L, P 0.001). Patients with EH had significantly higher degree of end organ failure measured with quick Sequential Organ Failure Assessment scores(0.42 ± 0.68 vs 0.01 ± 0.12, P 0.001), increased need for blood products(63% vs 5%, P 0.001), and exchange transfusions(10.5% vs 1.3%, P = 0.022).CONCLUSION Among patients with SCD, elevated levels of total bilirubin are rare, but indicative of elevated morbidity, mortality, and need for blood transfusions.Large differences in sickle cell genotype also exist, but the significance of this is unknown. 相似文献
114.
Fuad Jacob Abi Rached-Junior Aline Evangelista Souza-Gabriel Edson Alfredo Carlos Eduardo Saraiva Miranda Yara Teresinha Correa Silva-Sousa Manoel Damião Sousa-Neto 《Journal of endodontics》2009,35(2):251-255
This study evaluated in vitro the bond strength of Epiphany sealer prepared with resinous solvent of Epiphany system (Thinning resin) by using a push-out test. Forty maxillary canines were sectioned transversally below the cementoenamel junction to provide 4-mm-thick dentin disks that were centered in aluminum rings and embedded in acrylic resin. Root canals were prepared with tapered diamond bur. Intraradicular dentin was treated with 1% NaOCl for 30 minutes, 17% ethylenediaminetetraacetic acid for 5 minutes, and flushed with distilled water for 1 minute. The specimens were randomly distributed into 4 groups (n = 10) according to the filling material: GI, Epiphany without photoactivation; GII, Epiphany prepared with solvent without photoactivation; GIII, Epiphany followed by photoactivation; and GIV, Epiphany prepared with solvent followed by photoactivation. After the setting time, the specimens were submitted to the push-out test. The highest mean value (14.91 ± 2.82 MPa) was obtained with Epiphany prepared with solvent followed by photoactivation (GIV), which was statistically different (P < .01) from the other groups. Groups I (8.15 ± 2.47 MPa), II (9.46 ± 2.38 MPa), and III (9.80 ± 2.51 MPa) had inferior bond strength values and were statistically similar among themselves (P > .01). The resinous solvent of Epiphany system increased the bond strength of Epiphany sealer to dentin walls when followed by photoactivation. 相似文献
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The aim of this study was to evaluate the biocompatibility of sealers used in apical surgery in rat subcutaneous tissue. Sterile polyethylene tubes were filled with the following sealers: Sealapex, Sealapex with addition of zinc oxide, Sealer 26, Sealer 26 with thicker consistency (greater powder-to-resin ratio) and White MTA. The tubes were implanted in the dorsum of male rats and after 7, 21 and 42 days, the animals were killed, obtaining 5 specimens for each sealer in each evaluation period. The lateral surface of the tube was used as negative control. The inflammatory reaction to contact with the sealers was classified as absent, mild, moderate and severe. At 7 days, all sealers caused similar inflammatory reactions in the connective tissue of the animals, with most specimens presenting a moderate to intense chronic inflammatory reaction, with presence of multinucleated giant cells. At 21 days, Sealer 26 and Sealer 26 with thicker consistency presented more intense inflammatory reaction (p=0.004), whereas after 42 days, the inflammatory reaction ranged from absent to mild with statistically similar results for both materials (p=0.08). Except for MTA, all sealers presented foreign-body granulomatous reaction at 42 days. All sealers but Sealapex presented a statistically significant decrease of the inflammatory reaction over time. In conclusion, all sealers caused moderate to severe inflammation in the earlier evaluation period. However, Sealer 26 and Sealer 26 with thicker consistency caused more intense inflammatory reactions after 21 days of contact with the tissues and no granulomatous reaction was observed for MTA at the final period of analysis. 相似文献
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119.
Bleomycin, etoposide and cisplatinum (BEP) chemotherapy for metastatic germ cell tumours: treatment outcomes at UKM medical centre, Malaysia
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Azrif M Leong YK Aslan NM Fong KV Ismail F 《Asian Pacific journal of cancer prevention》2012,13(6):2467-2471
Introduction: Although bleomycin/etoposide/cisplatinum (BEP) chemotherapy is established as the standardtreatment for germ cell tumours, it requires significant experience in administration and toxicity managementto maintain optimal dose intensity. A retrospective review of 30 patients was conducted at UKMMC to studytreatment outcomes. Methods & Materials: Patients with GCTs and treated with at least two cycles of BEPchemotherapy between January 2003 and Oct 2009 were eligible for this study. Patients received 4-6 cycles ofbleomycin 30,000IU IV D1, D8 & D15 and either etoposide 100mg/m2 IV D1- D5 and cisplatin 20mg/m2 IV D1-D5 (5 day BEP regimen) or etoposide 165mg/m2 D1- D3 and cisplatin 50mg/m2 D1-3 (3 day BEP regimen)every three weeks per cycle. All patients received prophylactic granulocyte colony-stimulating factor (GCSF)from days 6 to 10 of each cycle. The overall response rates, 2 year progression-free survival and overall survivalof the whole cohort were assessed. Results: Thirty patients fulfilled the inclusion criteria. Non-seminomatousGCTs comprised 93.3% of cases and gonadal and mediastinal primary sites were the most common. Sixty percentwere classified as IGCCCG poor risk disease. Median follow-up was 26.6 months. The overall response rate(CR+PR) was 70%. The two year PFS and OS were 70% and 66%. There was a significant difference in termsof the overall response rate (85% vs 40%, p = 0.03) and in PFS (94.7% vs 50%, p = 0.003) between gonadaland extragonadal primary sites. Conclusion: It is possible to achieve outcomes similar to those in internationalclinical trials with close monitoring and good supportive care of patients undergoing BEP chemotherapy. Thereis a strong argument for patients with IGCCCG poor prognosis disease to be treated in specialist tertiary centresto optimize treatment outcomes. 相似文献
120.
Alireza Ghaffariyeh Nazafarin Honarpisheh Akbar Karkhaneh Reza Abudi Zinaida Ivanovna Moroz Alireza Peyman Abolhasan Faramarzi Fuad Abasov 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2011,249(1):93-101