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Ataxia telangiectasia is a multisystem disease with an autosomal recessive inheritance. It is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, humoral and cellular immunodeficiencies and high incidence of neoplasia and radiosensitivity. A 5 year retrospective survey included 24 patients belonging to 17 families. Cerebellar ataxia was the first clinical symptom and was usually noticed when the child began to walk. Mean age of onset was 2.9+/-1.8 years. Oculocutaneous telangiectasia was present in 17 cases and appeared between 2 and 8 years and then spread in a characteristic symmetrical pattern. When ocular telangiectasia was absent (6 cases), the diagnostic of ataxia telangiectasia was retained on oculomotor apraxia (2 cases), recurrent sinopulmonary infections (3 cases) and/or a sib with typical ataxia telangiectasia (1 case). Recurrent sinopulmonary infections, absence or low serum level of IgA (78 p.100) and lymphopenia revealed immunodeficiency. Among 12 patients, chromosomal instability was observed in 5. Balanced rearrangements involving chromosomes 2, 7, 14, 22, 1, 3 and 11. The responsible gene, ATM, encodes a large protein kinase with a phosphatidylinositol 3-kinase-like domain. Ataxia telangiectasia patients have a 100 fold higher risk of cancer than the general population. We reported, in the same family two patients who developed neoplasia, (lymphoma and leukemia). During follow-up, a progressive worsening was observed in all cases. Three patients have died. 相似文献
3.
Guermazi A Rili M Fritsch S Turki C Benchaïb N de Kerviler E Frija J Sarfati E 《Annales de chirurgie》2000,125(10):985-988
Primary malignant melanoma of the esophagus is a rare but aggressive tumor that accounts for less than 0.1-0.2% of all esophageal malignancies. The aim of this study was to report a case of primary malignant melanoma of the esophagus in a 72-year-old woman. The diagnosis was histologically proven, but the patient died despite extensive surgical resection. 相似文献
4.
Ibtihel Rebai Ichraf Kraoua Hanene Benrhouma Aida Rouissi Ilhem Turki Irène Ceballos-Picot Neziha Gouider-Khouja 《Brain & development》2014
Lesch Nyhan syndrome (LNS) is an X-linked recessive disorder due to complete deficiency of the hypoxanthine–guanine phosphoribosyltransferase (HPRT) enzyme. Defect of the enzymatic activity is related to mutations of the HPRT1 gene. The disorder severity is due to neurological features and renal complications. Up to now, more than 300 mutations have been reported. We report on a Tunisian child with a severe phenotype due to a novel identified complex mutation. 相似文献
5.
Human and equine rabies immunoglobulins are currently available for passive immunization against rabies. However, these are hampered by the limited supply and some drawbacks. Advances in antibody engineering have led to overcome issues of clinical applications and to improve the protective efficacy. In the present study, we report the generation of a trivalent single-chain Fv (scFv50AD1-Fd), that recognizes the rabies virus glycoprotein, genetically fused to the trimerization domain of the bacteriophage T4 fibritin, termed ‘foldon’ (Fd). scFv50AD1-Fd was expressed as soluble recombinant protein in bacterial periplasmic space and purified through affinity chromatography. The molecular integrity and stability were analyzed by polyacrylamide gradient-gel electrophoresis, size-exclusion chromatography and incubation in human sera. The antigen-binding properties of the trimeric scFv were analyzed by direct and competitive-ELISA. Its apparent affinity constant was estimated at 1.4 ± 0.25 × 109 M−1 and was 75-fold higher than its monovalent scFv (1.9 ± 0.68 × 107 M−1). The scFv50AD1-Fd neutralized rabies virus in a standard in vitro and in vivo neutralization assay. We showed a high neutralization activity up to 75-fold compared with monovalent format and the WHO standard serum. The gain in avidity resulting from multivalency along with an improved biological activity makes the trivalent scFv50AD1-Fd construct an important reagent for rabies protection. The antibody engineering approach presented here may serve as a strategy for designing a new generation of anti-rabies for passive immunotherapy. 相似文献
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Turki S. Abualait Matar A. Alzahrani Alaa I. Ibrahim Shahid Bashir Zainah A. Abuoliat 《Medicine》2021,100(16)
Stroke is the major leading cause of death and severe long-term disability worldwide. The consequences of stroke, aside from diminished survival, have a significant impact on an individual''s capability in maintaining self-autonomy and life satisfaction (LS). Thus, this study aimed to assess LS and other specific domains of LS in stroke survivors following their first-ever stroke, and to describe the relationship using socio-demographic and stroke-related variables.This study recruited 376 stroke survivors (244 men and 132 women, mean age: 57 years) 1 year following stroke. Data on participants’ LS (measured using the Life Satisfaction Questionnaire [LiSat-11]), socio-demographics, and stroke-related variables were collected.Univariate analysis showed that LS and the 10 specific domains were not associated with the patients’ gender or stroke type; however, age at onset, marital status, and vocational situation were significantly associated with some domains in LiSat-11 (Spearman''s rho = 0.42–0.87; all P < 0.05). Logistic regression revealed that verbal and cognitive dysfunction were the most negative predictors of LS (odds ratio 4.1 and 3.7, respectively).LS is negatively affected in stroke survivors 1 year post onset. The results indicate that recovering social engagement is a positive predictor of higher LS in stroke survivors. More importantly, the findings revealed that cognitive and verbal dysfunctions were the most prominent negative predictors of the overall gross level of LS. Multidisciplinary rehabilitation for stroke survivors is therefore critical. 相似文献
8.
Fahmi A. AL-Kaf Turki A. AL Garni Nahes AL-Harbi Hassan Sandokji Sondos Samargandy 《Journal of the Saudi Heart Association》2021,33(1):71
A 21-years-old with Down syndrome presented with respiratory distress. Initial investigations revealed a cardiac tamponade. On further evaluation, he had positive coronavirus disease-2019 (COVID-19), severe chest infection and severe hypothyroidism. He responded well to urgent pericardiocentesis, levothyroxine, hydrocortisone and tocilizumab. 相似文献
9.
Abderrahim E Harzallah A Barbouch S Turki S Helal I Ben Abdallah T Hedri H Ben Moussa F Bardi R Ayed K Ben Maïz H Kheder A 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》2008,29(7):535-540
PURPOSE: The aim of this study was to determine the epidemiological and the clinical characteristics of post-transplant lymphoproliferative disease (PTLD) and to evaluate its impact on patients' and grafts' survival. PATIENTS AND METHODS: Three hundred and sixteen adult kidney recipients, transplanted between June 1986 and May 2006, were included. The incidence rates were calculated by dividing the number of different events (PTLD, death and graft-loss) by the total duration of follow-up. The survival rates and the cumulated frequency of PTLD were calculated according to the actuarial method. RESULTS: Seven recipients developed PTLD during a cumulated follow-up of 2202 years. The annual incidence was of 0.32% (95% CI : 0.30-0.34). It was of 0.81% (0.70-0.92) in recipients of kidneys from deceased donors, and of 0.25% (0.23-0.27) in patients transplanted from living donors (NS). The delay after transplantation for the diagnosis of PTLD ranged from 7.4 months to 7.7 years. PTLD was a B cell lymphoma in six cases and affected extra nodal sites in most of the cases. The treatment, comprising the cessation of immunosuppressive therapy in all cases, resulted in complete remission in four patients. Three patients died, representing an annual death rate of 6.1%, versus 2.8% in patients without PTLD (NS). The annual incidence of graft loss was 6.1% versus 3.2% among patients without PTLD (NS). CONCLUSION: PTLD was observed in 2.2% of our patients, with an annual incidence of 0.32%. It resulted in a decrease of both patients' and grafts' survivals. Preventive measures, including the improvement of the monitoring of immunosuppressive drugs and the prevention of viral infections, should be considered to reduce the risk of PTLD. 相似文献
10.
Miriam Schmidts Valeska Frank Tobias Eisenberger Saeed al Turki Albane A. Bizet Dinu Antony Suzanne Rix Christian Decker Nadine Bachmann Martin Bald Tobias Vinke Burkhard Toenshoff Natalia Di Donato Theresa Neuhann Jane L. Hartley Eamonn R. Maher Radovan Bogdanovi Amira Peco‐Anti Christoph Mache Matthew E. Hurles Ivana Joksi Marija Gu‐eki Jelena Dobricic Mirjana Brankovic‐Magic Hanno J. Bolz Gregory J. Pazour Philip L. Beales Peter J. Scambler Sophie Saunier Hannah M. Mitchison Carsten Bergmann 《Human mutation》2013,34(5):714-724
Ciliopathies are genetically heterogeneous disorders characterized by variable expressivity and overlaps between different disease entities. This is exemplified by the short rib‐polydactyly syndromes, Jeune, Sensenbrenner, and Mainzer‐Saldino chondrodysplasia syndromes. These three syndromes are frequently caused by mutations in intraflagellar transport (IFT) genes affecting the primary cilia, which play a crucial role in skeletal and chondral development. Here, we identified mutations in IFT140, an IFT complex A gene, in five Jeune asphyxiating thoracic dystrophy (JATD) and two Mainzer‐Saldino syndrome (MSS) families, by screening a cohort of 66 JATD/MSS patients using whole exome sequencing and targeted resequencing of a customized ciliopathy gene panel. We also found an enrichment of rare IFT140 alleles in JATD compared with nonciliopathy diseases, implying putative modifier effects for certain alleles. IFT140 patients presented with mild chest narrowing, but all had end‐stage renal failure under 13 years of age and retinal dystrophy when examined for ocular dysfunction. This is consistent with the severe cystic phenotype of Ift140 conditional knockout mice, and the higher level of Ift140 expression in kidney and retina compared with the skeleton at E15.5 in the mouse. IFT140 is therefore a major cause of cono‐renal syndromes (JATD and MSS). The present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy. 相似文献