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Tekin M Kavaz A Berberoğlu M Fitoz S Ekim M Ocal G Akar N 《American journal of medical genetics. Part A》2004,(3):284-287
We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. 相似文献
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Primary nephrotic syndrome during childhood in Turkey 总被引:3,自引:0,他引:3
Nuray Özkaya Nilgün Çakar Mesiha Ekim Nazli Kara Nermin Akkök Fatos Yalçinkaya 《Pediatrics international》2004,46(4):436-438
BACKGROUND: Minimal change nephrotic syndrome (MCNS) is the most common cause of primary nephrotic syndrome (NS) during childhood. However, recent studies from different countries have reported an increasing incidence of focal segmental glomerulosclerosis (FSGS) in children. METHODS: This is a retrospective study in which 392 Turkish children who were diagnosed with NS during the last 10 years and were followed for at least 2 years, were evaluated. Mean age of the study group was 4.6 +/- 3.4 years (range 0.9-16 years) and 232 were male and 160 were female. RESULTS: In total, 280 patients were diagnosed as MCNS with their initial presentations, laboratory features, and clinical course. Kidney biopsy was performed in the remaining 112 children according to current recommendations. The results showed that membranoproliferative glomerulonephritis (MPGN) was the most common histopathologic diagnosis, 38 (34%) of the 112 patients were found to have MPGN. The number diagnosed as FSGS was 26 (23%). A significant difference was found between the age groups for both MPGN and FSGS, the former being more common in children >6 years of age and the latter more frequent in children =6 years. MCNS was found in only 19% of all biopsies performed and the total incidence of MCNS (presumptive + biopsy proven) was 76%. There was no significant difference between the incidence of different histopathological subtypes before and after 1995. CONCLUSION: Minimal change nephrotic syndrome is still the most common primary NS in childhood and MPGN is found to be the most common histopathologic subtype in the present patient population who underwent biopsy. 相似文献
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Stephanie Dufek Tuula Holtta Michel Fischbach Gema Ariceta Augustina Jankauskiene Rimante Cerkauskiene Claus Peter Schmitt Betti Schaefer Christoph Aufricht Elizabeth Wright Constantinos J. Stefanidis Mesiha Ekim Sevcan Bakkaloglu Günter Klaus Aleksandra Zurowska Karel Vondrak Johan Vande Walle Alberto Edefonti Rukshana Shroff 《Pediatric nephrology (Berlin, Germany)》2015,30(11):2021-2027
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Abdulkadir Bedirli Deniz Yucel Burcu Ekim 《JSLS, Journal of the Society of Laparoendoscopic Surgeons》2014,18(3)
Background and Objectives:
Bowel anastomosis after anterior resection is one of the most difficult tasks to perform during laparoscopic colorectal surgery. This study aims to evaluate a new feasible and safe intracorporeal anastomosis technique after laparoscopic left-sided colon or rectum resection in a pig model.Methods:
The technique was evaluated in 5 pigs. The OrVil device (Covidien, Mansfield, Massachusetts) was inserted into the anus and advanced proximally to the rectum. A 0.5-cm incision was made in the sigmoid colon, and the 2 sutures attached to its delivery tube were cut. After the delivery tube was evacuated through the anus, the tip of the anvil was removed through the perforation. The sigmoid colon was transected just distal to the perforation with an endoscopic linear stapler. The rectosigmoid segment to be resected was removed through the anus with a grasper, and distal transection was performed. A 25-mm circular stapler was inserted and combined with the anvil, and end-to-side intracorporeal anastomosis was then performed.Results:
We performed the technique in 5 pigs. Anastomosis required an average of 12 minutes. We observed that the proximal and distal donuts were completely removed in all pigs. No anastomotic air leakage was observed in any of the animals.Conclusion:
This study shows the efficacy and safety of intracorporeal anastomosis with the OrVil device after laparoscopic anterior resection. 相似文献8.
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Thomas A. Forbes Alan R. Watson Aleksandra Zurowska Rukshana Shroff Sevcan Bakkaloglu Karel Vondrak Michel Fischbach Johan Van de Walle Gema Ariceta Alberto Edefonti Christoph Aufricht Augustina Jankauskiene Tuula Holta Mesiha Ekim Claus Peter Schmitt Constantinos Stefanidis European Paediatric Dialysis Working Group 《Pediatric nephrology (Berlin, Germany)》2014,29(9):1617-1624
Background
There is increasing focus on the problems involved in the transition and transfer of young adult patients from paediatric to adult renal units. This situation was addressed by the 2011 International Pediatric Nephrology Association/International Society of Nephrology (IPNA/ISN) Consensus Statement on transition.Methods
We performed a survey of transition practices of 15 paediatric nephrology units across Europe 2 years after publication of the consensus statement.Results
Two thirds of units were aware of the guidelines, and one third had integrated them into their transition practice. Forty-seven per cent of units transfer five or fewer patients with chronic kidney disease (CKD) stage 5 per year to a median of five adult centres, with higher numbers of CKD stages 2–4 patients. Seventy-three per cent of units were required by the hospital or government to transfer patients by a certain age. Eighty per cent of units commenced transition planning after the patient turned 15 years of age and usually within 1–2 years of the compulsory transfer age. Forty-seven per cent of units used a transition or transfer clinic. Prominent barriers to effective transition were patient and parent attachment to the paediatric unit and difficulty in allowing the young person to perform self-care.Conclusions
Whereas awareness of the consensus statement is suboptimal, it has had some impact on practice. Adult nephrologists receive transferred patients infrequently, and the process of transition is introduced too late by paediatricians. Government- and hospital-driven age-based transfer policies distract focus from the achievement of competencies in self care. Variable use of transition clinics, written patient information and support groups is probably due to economic and human-resource limitations. The consensus statement provides a standard for evolving and evaluating transition policies jointly agreed upon by paediatric and adult units. 相似文献10.
Songül Yılmaz Z. Birsin Özçakar Burcu Bulum Saba Kiremitçi Arzu Ensari Mesiha Ekim Kenan Keven Fatoş Yalçınkaya 《Pediatric transplantation》2014,18(8):E259-E261
Systemic AA amyloidosis is a serious complication of many chronic inflammatory disorders and chronic infections. Renal involvement is seen in the majority of the patients and can lead to end‐stage renal disease. Renal transplantation can be performed in these patients; however, amyloidosis can recur in the transplanted kidneys. On the other hand, de novo AA amyloidosis in renal transplant patients has been rarely reported. We report a 17‐yr‐old patient with end‐stage renal disease due to genitourinary anomalies who developed recurrent pyelonephritis after transplantation. Three yr after transplantation, renal biopsy was performed for proteinuria and AA amyloidosis was identified in the renal allograft. Although rare, chronic infections might cause de novo amyloidosis in renal transplant patients. Therefore, amyloidosis should be kept in mind in those types of patients who present with proteinuria. 相似文献