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11.
Mutation in ADORA1 identified as likely cause of early‐onset parkinsonism and cognitive dysfunction 下载免费PDF全文
Elham Jaberi PhD Mohammad Rohani MD Gholam Ali Shahidi MD Shahriar Nafissi MD Ehsan Arefian PhD Masoud Soleimani PhD Abolfazl Moghadam MS Mohsen Karimi Arzenani PhD Farid Keramatian MS Brandy Klotzle PhD Jian‐Bing Fan PhD Casey Turk PhD Frank Steemers PhD Elahe Elahi PhD 《Movement disorders》2016,31(7):1004-1011
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Bagherniya Mohammad Mahdavi Atena Abbasi Elahe Iranshahy Milad Sathyapalan Thozhukat Sahebkar Amirhossein 《Inflammopharmacology》2022,30(1):91-110
Inflammopharmacology - Obesity is abnormal fat accumulation in the body which acts as a risk factor for various cardiometabolic states. Adipose tissue in excess can release inflammatory factors,... 相似文献
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Mostaghel EA Page ST Lin DW Fazli L Coleman IM True LD Knudsen B Hess DL Nelson CC Matsumoto AM Bremner WJ Gleave ME Nelson PS 《Cancer research》2007,67(10):5033-5041
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Elahe Pirayesh Azadeh Rakhshan Mahasti Amoui Afshin Rakhsha Ali Shafie Poor Majid Assadi 《Annals of nuclear medicine》2013,27(5):478-480
Osteosarcoma is the most frequent primary malignancy of bone, and usually metastasizes to the lung and bones, while other sites are rare. In most reported cases, soft tissue metastasis of osteosarcoma is unusual, and only develops in the advanced stages of the disease, especially following multiple recurrences. We present a patient with recently diagnosed osteosarcoma of the right femur, showing abdominal wall metastasis diagnosed by technetium-99m-methylene diphosphonate (99m Tc-MDP) whole body bone scintigraphy and confirmed histologically. The present case highlights the importance of whole body imaging of patients with osteosarcoma for detecting unusual sites of metastasis, especially in soft tissue organs. 相似文献
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Brown-Vialetto-Van Laere syndrome (BVVLS) is a very rare neurodegenerative disorder characterized by pontobulbar palsy and sensorineural hearing loss. Its mode of inheritance in affected families has usually been autosomal recessive, although autosomal dominant inheritance and incomplete penetrance have also been reported. Recently, C20orf54 was identified as a causative gene for BVVLS. Twelve different mutations have so far been identified in 10 patients affected with BVVLS or the related disorder Fazio Londe syndrome. Here, results of screening of C20orf54 in three unrelated BVVLS patients are reported. Four novel mutations that affect amino acid changes, p.Asn21Ser, p.Pro220His, p.Ala312Val and p.Gly375Asp, were identified in the patients. The causative nucleotide variations were not observed in 200 control individuals. One of the patients harbored compound heterozygous mutations, but only one mutated allele was observed in each of the two remaining patients. 相似文献
18.
Effect of testosterone replacement therapy on prostate tissue in men with late-onset hypogonadism: a randomized controlled trial 总被引:9,自引:0,他引:9
Marks LS Mazer NA Mostaghel E Hess DL Dorey FJ Epstein JI Veltri RW Makarov DV Partin AW Bostwick DG Macairan ML Nelson PS 《JAMA》2006,296(19):2351-2361
Context Prostate safety is a primary concern when aging men receive testosterone replacement therapy (TRT), but little information is available regarding the effects of TRT on prostate tissue in men. Objective To determine the effects of TRT on prostate tissue of aging men with low serum testosterone levels. Design, Setting, and Participants Randomized, double-blind, placebo-controlled trial of 44 men, aged 44 to 78 years, with screening serum testosterone levels lower than 300 ng/dL (<10.4 nmol/L) and related symptoms, conducted at a US community-based research center between February 2003 and November 2004. Intervention Participants were randomly assigned to receive 150 mg of testosterone enanthate or matching placebo intramuscularly every 2 weeks for 6 months. Main Outcome Measures The primary outcome measure was the 6-month change in prostate tissue androgen levels (testosterone and dihydrotestosterone). Secondary outcome measures included 6-month changes in prostate-related clinical features, histology, biomarkers, and epithelial cell gene expression. Results Of the 44 men randomized, 40 had prostate biopsies performed both at baseline and at 6 months and qualified for per-protocol analysis (TRT, n = 21; placebo, n = 19). Testosterone replacement therapy increased serum testosterone levels to the mid-normal range (median at baseline, 282 ng/dL [9.8 nmol/L]; median at 6 months, 640 ng/dL [22.2 nmol/L]) with no significant change in serum testosterone levels in matched, placebo-treated men. However, median prostate tissue levels of testosterone (0.91 ng/g) and dihydrotestosterone (6.79 ng/g) did not change significantly in the TRT group. No treatment-related change was observed in prostate histology, tissue biomarkers (androgen receptor, Ki-67, CD34), gene expression (including AR, PSA, PAP2A, VEGF, NXK3, CLU [Clusterin]), or cancer incidence or severity. Treatment-related changes in prostate volume, serum prostate-specific antigen, voiding symptoms, and urinary flow were minor. Conclusions These preliminary data suggest that in aging men with late-onset hypogonadism, 6 months of TRT normalizes serum androgen levels but appears to have little effect on prostate tissue androgen levels and cellular functions. Establishment of prostate safety for large populations of older men undergoing longer duration of TRT requires further study. Trial Registration clinicaltrials.gov Identifier: NCT00161304 相似文献
19.
Masaeli E Morshed M Rasekhian P Karbasi S Karbalaie K Karamali F Abedi D Razavi S Jafarian-Dehkordi A Nasr-Esfahani MH Baharvand H 《Journal of biomedical materials research. Part A》2012,100(7):1907-1918
A critical element in tissue engineering involves the fabrication of a three-dimensional scaffold. The scaffold provides a space for new tissue formation, supports cellular ingrowth, and proliferation and mimics many roles of the extracellular matrix. Poly(3-hydroxybutyrate) (PHB) is the most thoroughly investigated member of the polyhydroxyalkanoates (PHAs) family that has various degrees of biocompatibility and biodegradability for tissue engineering applications. In this study, we fabricated PHB scaffolds by utilizing electrospinning and salt-leaching procedures. The behavior of monkey epithelial kidney cells (Vero) and mouse mesenchymal stem cells (mMSCs) on these scaffolds was compared by the MTS assay and scanning electron microscopy. Additionally, this study investigated the mechanical and physical properties of these scaffolds by measuring tensile strength and modulus, dynamic contact angle and porosity. According to our results, the salt-leached scaffolds showed more wettability and permeability, but inferior mechanical properties when compared with nanofibrous scaffolds. In terms of cell response, salt-leached scaffolds showed enhanced Vero cell proliferation, whereas both scaffolds responded similarly in the case of mMSCs proliferation. In brief, nanofibrous scaffolds can be a better substrate for cell attachment and morphology. 相似文献
20.
Elahi E Shafaghati Y Asadi S Absalan F Goodarzi H Gharaii N Karimi-Nejad MH Shahram F Hughes AE 《Journal of bone and mineral metabolism》2007,25(3):159-164
Familial expansile osteolysis (FEO) is a rare disorder causing bone dysplasia. The clinical features of FEO include early-onset
hearing loss, tooth destruction, and progressive lytic expansion within limb bones causing pain, fracture, and deformity.
An 18-bp duplication in the first exon of the TNFRSF11A gene encoding RANK has been previously identified in four FEO pedigrees. Despite having the identical mutation, phenotypic
variations among affected individuals of the same and different pedigrees were noted. Another 18-bp duplication, one base
proximal to the duplication previously reported, was subsequently found in two unrelated FEO patients. Finally, mutations
overlapping with the mutations found in the FEO pedigrees have been found in ESH and early-onset PDB pedigrees. An Iranian
FEO pedigree that contains six affected individuals dispersed in three generations has previously been introduced; here, the
clinical features of the proband are reported in greater detail, and the genetic defect of the pedigree is presented. Direct
sequencing of the entire coding region and upstream and downstream noncoding regions of TNFRSF11A in her DNA revealed the same 18-bp duplication mutation as previously found in the four FEO pedigrees. Additionally, eight
sequence variations as compared to the TNFRSF11A reference sequence were identified, and a haplotype linked to the mutation based on these variations was defined. Although
the mutation in the Iranian and four of the previously described FEO pedigrees was the same, haplotypes based on the intragenic
SNPs suggest that the mutations do not share a common descent. 相似文献