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1.
Familial Mediterranean fever (FMF) is an autosomal-recessive disease. It is characterized by recurring fever, abdominal pain, and serositis. The Mediterranean fever (MEFV) gene is localized on 16p13.3 and more than 35 mutations have been described to date. There are some differences in the gene mutations of FMF in the various ethnic groups. The aim of this study is to determine the frequency of the mutations which has been reported comparatively rare, to define the most effective mutation set, and to select the most suitable DNA analysis system for Turkish FMF patients. Mutations in 330 Turkish FMF patients with typical phenotypes from various regions of Turkey were evaluated for the research purposes. These patients were analyzed for six MEFV gene mutations by the NanoChip® Molecular Genetics Workstation. The most frequent mutation was M694V, identified in 50.00% of the alleles examined; M680I followed with 14.10% and V726A—9.70%. Consequently, we determined that R761H (n?=?23; 3.48%) was the most frequent rare mutations in Turkish FMF patients. Frequency of the rare mutations were R761H (3.48%), E148Q (1.36%), and M694I (1.21%). All of these mutations were in the compound heterozygote state. Our study showed that R761H mutations were higher than it has been reported in literature until now and were mainly associated with M694V. We suggest that mutation R761H should be included in the mutation scanning analysis researches or considered if the patient has M694V/? mutation especially in Turkish FMF patients. Larger serial studies need to be done to investigate the rate and coexistence of these mutations. 相似文献
2.
Tuncer Demir Ibrahim Turkbeyler Davut Sinan Kaplan Yavuz Pehlivan Mustafa Orkmez Ediz Tutar Seyithan Taysi Bunyamin Kisacik Ahmet Mesut Onat Cahit Bagcı 《Inflammation》2013,36(1):75-79
Systemic sclerosis (SSc) is a disease characterized by skin and internal organ involvement. There is progressive accumulation of extracellular matrix components in the skin and involved organs. Tissue fibrosis is the prominent reason for mortality, and still, there is no satisfactory treatment. The aim of this study was to evaluate the effects of urotensin-II (U-II) antagonist palosuran in an animal model of scleroderma. We also planned to measure U-II, endothelin-1 (ET-1), and transforming growth factor-β1 (TGF-β1) levels, as well as the association of these levels with dermal thickness. Twenty-four male mice were included in this study and they were divided into three groups—group 1: control group, group 2: fibrosis group, and group 3: fibrosis + palosuran treatment group. Fibrosis + palosuran treatment in group 3 reduced ET-1, U-II, and TGF-β1 levels. In total, the diminished values were statistically significant in the ET-1 and TGF-β1 levels (p?<?0.05). Dermal thickness was higher in the fibrosis group, when compared with the other groups. There was no significant relationship between dermal thickness and ET-1, U-II, or TGF-β1 levels (p?>?0.05). It is believed that U-II is an important mediator in SSc, and its antagonism with palosuran could be a new treatment choice in SSc. 相似文献
3.
Ahmet Mesut Onat Yavuz Pehlivan Ibrahim Halil Turkbeyler Tuncer Demir Davut Sinan Kaplan Ali Osman Ceribasi Mustafa Orkmez Ediz Tutar Seyithan Taysi Mehmet Sayarlioglu Bunyamin Kisacik 《Inflammation》2013,36(2):405-412
Pulmonary arterial hypertension (PAH) is a progressive and a life-threatening disease with its high morbidity and mortality ratios. On searching for new shining targets in pathogenesis, we noticed, in our previous studies, urotensin-II (UII) in systemic sclerosis with potent angiogenic and pro-fibrotic features. Owing to the mimicking properties of UII with endothelin-1 (ET1), we attempted to investigate the effect of palosuran in a PAH rat model. Thirty rats were randomly divided into three groups, with each group comprising 10 rats: group 1 (control group) received the vehicle subcutaneously, instead of monocrotaline (MCT) and vehicle; group 2 (MCT group) received subcutaneous MCT and vehicle; and group 3 (MCT + palosuran group) received subcutaneous MCT and palosuran. Serum UII, ET1, transforming growth factor-β1 (TGF-β1) levels, pulmonary arteriolar pathology of different diameter vessels, and cardiac indices were evaluated. The ET1, TGF-β1, and UII levels were significantly diminished in the treatment group, similar to the controls (p?<?0.001). Right ventricular hypertrophy index and mean pulmonary arterial pressure scores were also significantly reduced in the treatment group (p?=?0.001). Finally, in the 50–125-μm diameter arterioles, in contrast to Groups 3 and 1, there was a statistically significant thickness (p?<?0.01) in the arteriolar walls of rats in Group 2. The treatment effect on arteries of more than 125-μm diameters was found to be valuable but not significant. Owing to its healing effect on hemodynamic, histological, and biochemical parameters of MCT-induced PAH, palosuran as an antagonist of UII might be an optional treatment alternative for PAH. 相似文献
4.
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI 下载免费PDF全文
5.
Matthias Watzka Christof Geisen Monika Scheer Regina Wieland Verena Wiegering Thomas Dörner Hans-Jürgen Laws Fatma Gümrük Sahin Hanalioglu Sule Ünal Davut Albayrak Johannes Oldenburg 《Thrombosis research》2014
Functional limitations for the vitamin K cycle, caused either by mutations in gamma-glutamyl carboxylase or vitamin K epoxide reductase genes, result in hereditary deficiency of vitamin K-dependent coagulation factors (VKCFD1 and VKCFD2, respectively). Patients suffering from VKCFD often share several other anatomical irregularities which are not related to haemostasis. Here we report on nine patients, eight of them previously unreported, who presented with VKCFD1. All were examined with special attention to vitamin K-dependent coagulation factors as well as to bone and heart development and to other anatomical signs of embryonal vitamin K deficiency. In total, we detected ten mutations in the gamma-glutamyl carboxylase gene of which seven have not been previously reported. Most interestingly, additional non-bleeding phenotypes were observed in all patients including midfacial hypoplasia, premature osteoporosis, cochlear hearing loss, heart valve defects, pulmonary stenosis, or pseudoxanthoma elasticum-like phenotype. Undercarboxylated matrix Gla protein, osteocalcin, and periostin appear to be responsible for these defects which are also observed in cases of fetal warfarin syndrome. 相似文献
6.
IntroductionSome improvements have been developed with new generations of nickel-titanium (NiTi) rotary instruments that led to their successful and extensive application in clinical practice. The purpose of this in vitro study was to compare the root canal preparations performed by using GT Series X and Twisted File systems produced by innovative manufacturing process with Revo-S, RaCe, Mtwo, and ProTaper Universal systems manufactured directly from conventional nitinol and with stainless steel K-Flexofile instruments.MethodsThe mesiobuccal root canals of 140 maxillary first permanent molars that had between 30°–40° curvature angle and 4- to 9-mm curvature radius of the root canal were used. After root canal preparations made by using GT Series X, Twisted File, Revo-S, RaCe, Mtwo, and ProTaper Universal NiTi rotary systems and stainless steel K-Flexofile instruments, transportation occurred in the root canal, and alteration of working length (WL) was assessed by using a modified double-digital radiographic technique. The data were compared by the post hoc Tukey honestly significant difference test.ResultsNiTi rotary systems caused less canal transportation and alteration of WL than K-Flexofile instruments (P < .05). There was no significant difference between NiTi rotary system groups at any levels (P > .05) except 2.5 mm from the WL. At this level ProTaper Universal system caused significant canal transportation (P < .05).ConclusionsGT Series X and Twisted File rotary systems produced with innovative process were concluded to shape the curved canals to result in minimal canal transportation, similar to Revo-S, RaCe, Mtwo, and ProTaper Universal rotary systems manufactured by traditional methods. 相似文献
7.
Erhan Özcan Ali Riza Çetin İsmail Davut Çapar Ali Riza Tunçdemir Hale Ari Aydinbelge 《Odontology / the Society of the Nippon Dental University》2013,101(2):204-209
This study evaluated the influence of eugenol on the push-out bond strengths of fiber posts cemented with different types of resin luting agents. Seventy-two extracted maxillary single-rooted canine teeth were randomly divided into two groups of 36 teeth. Group 1, the control group, was filled with gutta-percha only (i.e., did not receive eugenol), whereas group 2 was filled with a eugenol-containing sealer. All root canals were filled and each group was divided into three subgroups. The posts in each subgroup were cemented with the following materials: subgroup 1 with a 2-step self-etching adhesive system (Clearfil Liner Bond 2V + Panavia F); subgroup 2 with a 1-step self-etching adhesive (Panavia F); and subgroup 3 with a self-adhesive (Clearfil SA Cement). Dislodgement resistance was measured using a universal testing machine. All data were subjected to ANOVA using a factorial design and Tukey test (α = 0.05). The use of the eugenol-containing sealer significantly reduced the push-out bond strength of the fiber post (P < 0.05). The push-out bond strength of Panavia F was significantly higher than those of the other groups filled with the eugenol-containing sealer (P < 0.05). The Panavia F group was less susceptible to the inhibiting effect of eugenol than were the other evaluated groups when the fiber post was cemented in the canals filled with the eugenol-containing sealer. 相似文献
8.
Necati Tatarlı Davut Ceylan Hüseyin Canaz Mehmet Tokmak Hüsniye Hacıoğlu Bay Aşkın Şeker Evren Keleş Türker Kılıç Safiye Çavdar 《Acta neurochirurgica》2013,155(11):2183-2189
Background
Only limited attention has been paid to the anatomy and clinical importance of the falcine venous plexus. The aim of this study was to evaluate the falcine venous plexus anatomically using scanning electron microscopy (SEM), and to provide guidance for neurosurgical approaches.Methods
Latex or ink was injected into the superior and inferior sagittal sinus. The falcine venous plexus lying within the connective tissue of the falx cerebri was observed by dividing the falx into thirds (anterior, middle and posterior). Further, the SEM appearance of the falcine venous plexus was evaluated.Results
The anterior third of the falx cerebri consisted of small diameter falcine venous vessels. These vessels were localized close to either the superior or inferior sagittal sinus, and none extended as far as mid-falx cerebri levels in any of the 16 cases. They communicated with either superior or inferior sagittal sinuses, but not with both of these sinuses. In the middle third of the falx cerebri, the majority of the vessels of the falcine venous plexus had larger diameter compared to those of the anterior third. These vessels extended the length of the falx cerebri levels. They communicated with both superior and inferior sagittal sinuses. In the posterior third of the falx cerebri, the vessels of the falcine venous plexuses had the largest diameter and were located at the junction of the inferior sagittal sinus and the straight sinus. They were localized at the lower two-thirds of the falx cerebri. In all cases, the dense venous networks communicated with the inferior sagittal sinus but not with the superior sagittal sinus. The falcine venous plexus observed in the posterior third of the falx cerebri was denser than in the anterior and middle portions. The SEM revealed small vessels whose diameter ranged between 42 and 138 μm. The vessels of the falcine venous plexus in the anterior third had a mean diameter of 0.42?±?0.1 mm, in the middle third a mean diameter of 0.87?±?0.17 mm, and in the posterior third, 1.38?±?0.21 mm.Conclusion
The falcine venous plexus is a network of venous channels that exists within the connective tissue of the falx; the sizes and patterns of communication of these structures showed regional differences. Neurosurgeons should be aware of the regional differences when making an incision or puncturing the falx during a surgical approach. 相似文献9.
Nüvit Duraker Bakir Batı Zeynep Civelek Çaynak Davut Demir 《World journal of surgery》2013,37(6):1241-1248
Background
The aim of the present study was to determine how lymph node ratio (LNR; the ratio of the number of metastatic lymph nodes to the number of removed lymph nodes) can supplement the TNM nodal classification in breast carcinoma.Methods
We retrospectively reviewed the file records of 2,151 patients.Results
Lymph node ratio-based low- (LNR ≤ 0.20), intermediate- (LNR 0.21–0.65), and high-risk (LNR > 0.65) patient groups had significantly different disease-free survival (DFS) (P < 0.001). The DFS of patients with N1, N2, and N3 disease was significantly different (P < 0.001). When LNR and TNM nodal groupings were included together in the Cox analysis, both groupings had independent prognostic significance (P < 0.001 and P < 0.001, respectively). The most significant LNR threshold value separating patients in low-risk and high-risk groups in terms of disease recurrence was 0.20 for N1 disease (P < 0.001), 0.35 for N2 disease (P < 0.001), and 0.90 for N3 disease (P < 0.001).Conclusions
Lymph node ratio and TNM nodal groupings show no superiority over each other in categorizing patients with node-positive breast carcinoma into prognostic groups of low-, intermediate-, and high-risk. However, LNR grouping may supplement TNM nodal classification by categorizing patients within each TNM nodal group into low-risk and high-risk groups with significantly different survival. 相似文献10.