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Fredouille C Morice JE Delbecque K Liprandi A Piercecchi-Marti MD Gonzales M Figarella-Branger D 《Annales de pathologie》2006,26(1):60-65
Our findings on hearts of trisomic 21 fetuses of a new minor cardiac anomaly, belonging to the atrioventricular septal defect (AVSD) spectrum and the improved performances of the fetal ultrasound screening lend us to propose a new section, complementary to the standard cardiopathological examination. It would enable us to test the anatomic level of insertion of the atrioventricular valves of the crux of the heart. It consists of a section of the fetal hearts, fixed in formaldehyde, in a plane correlated to the plane of the fetal ultrasonographic four chamber view. Three hallmarks have been chosen because of their relevance and of their reproductibility in ultra sonography as well as in fetopathology: the apex and the inferior pulmonary veins. This additional section was realized on fetal hearts, regarded as "normal" with the standard pathologic examination, because of a lack of defect. It allowed us to detect a minor cardiac abnormality of the AVSD spectrum, frequent in the trisomic 21 fetuses, which we called: linear insertion of the atrio ventricular valves( LIAVV) without defect. Initially described on a series of Trisomic 21 fetal hearts, the LIAVV without defect has also been found in other fetuses with another pathology often associated with an anomaly of the AVSD spectrum. The possible detection of this abnormality in fetal cardiac ultrasound scanning justifies the use of this new anatomical technique. It also has to be included it in the full standard pathologic examination of the fetal hearts of all the abnormal fetuses. 相似文献
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F. Boemer M. Deberg R. Schoos J.‐H. Caberg S. Gaillez C. Dugauquier K. Delbecque A. François P. Maton N. Demonceau G. Senterre S. Ferdinandusse F.‐G. Debray 《Clinical genetics》2016,89(2):193-197
Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas most patients present with postnatal signs of energetic failure affecting muscle and liver, a small subset of patients presents antenatal malformations including brain dysgenesis and neuronal migration defects. Here, we report recurrence of severe cerebral dysgenesis with Dandy–Walker malformation in three successive pregnancies and review previously reported antenatal cases. Interestingly, we also report that acylcarnitines profile, tested retrospectively on the amniotic fluid of last pregnancy, was not sensitive enough to allow reliable prenatal diagnosis of CPT2 deficiency. Finally, because fetuses affected by severe cerebral malformations are frequently aborted, CPT2 deficiency may be underestimated and fatty acid oxidation disorders should be considered when faced with a fetus with Dandy–Walker anomaly or another brain dysgenesis. 相似文献
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Katty Camila Anaya Reyes Daniela Lynett Barrera Gabriel Burgos-Angulo Sergio Eduardo Serrano Gómez Ricardo Flaminio Rojas López 《Piel》2018,33(3):156-161
Introduction
Bowen's disease is a squamous cell carcinoma in situ. Its prevalence is higher in women, and mainly occurs in sun-exposed skin. It typically presents as well-demarcated scaly plaques. Multiple treatments currently exist, with the most common being surgical excision. Using several cases, this study describes the clinical and demographic characteristics of this disease in Bucaramanga, Colombia, with this being the first data reported on this condition in Latin-America.Methods
A case series study was conducted that included patients from 2005 to 2017 with a clinical and histological diagnosis of Bowen's disease. Cases were extracted from the database of an outpatient department of a high-complexity centre in Bucaramanga, Colombia.Results
A total of 64 cases were analysed. Women were more commonly affected than men (67.2%) with a 2:1 ratio. The most affected area was the lower extremities (34.3%), and the classic lesion was present in 92.2% of the cases, followed by pigmented lesions (6.2%). Surgical excision was performed on 57.9% of the patients, and persistence of the lesions was found in 6.2% of the cases, with all of them being treated initially with imiquimod.Discussion
No significant differences were found in the clinical or demographic distribution or in the treatment performed compared with world literature. Nonetheless, a higher frequency of multiple lesions in atypical locations, and pigmented lesions were observed, with no identified risk factor to account for these results. 相似文献20.
Eugene Mutijima Katty Delbecque Jean-Olivier Defraigne Claire Bouillenne Pierre Damas Luc Pierard Jacques Boniver Laurence de Leval 《Pathology, research and practice》2010
We report the case of a patient with giant cell myocarditis who was bridged to transplantation with mechanical circulatory support and developed a fatal perioperative hyperacute rejection. The patient had received abundant transfusions that had raised her anti-HLA antibody titers. The cross-match test was positive. No pre-transplantation immunosuppressive therapy had been administered given concomitant infection. The severity and acuteness of the rejection in this case likely reflect the combined effect of preformed anti-HLA antibodies in the context of an active organ-specific immune process at the time of transplantation. This case raises the questions of the need for intensive immunosuppressive therapy before transplantation in giant cell myocarditis and of the management of patients with positive cross-match in the context of a giant cell myocarditis. 相似文献