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71.
The epithelium covering the cornea at the front of the eye is maintained by stem cells located at its periphery, in a region known as the limbus. A lack or dysfunction of these so-called limbal stem cells (LSCs) results in the painful and blinding disease of LSC deficiency. In this review, current knowledge regarding the biology of these particular stem cells will be outlined, including recent advances that are enabling the gene expression analysis of these cells. The use of LSCs in therapeutic interventions for LSC deficiency will also be discussed, including the role for ex vivo expansion. In particular, the translation of basic science advances in LSC biology into therapeutic strategies will be highlighted. 相似文献
72.
73.
Elvira Lazić‐Mosler Ines Lakoš Jukić Slobodna Murat‐Sušić Karmela Husar Mihael Skerlev Zrinka Bukvić Mokos Norito Ishii Takashi Hashimoto Branka Marinović 《The Journal of dermatology》2015,42(11):1098-1100
This study presents a case of linear immunoglobulin A dermatosis‐like epidermolysis bullosa acquisita in a 4‐year‐old girl showing rapid, widespread and inflammatory skin lesions. The diagnosis was confirmed by histopathology, direct and indirect immunofluorescence, various immunoblotting analyses and enzyme‐linked immunosorbent assays. Despite the severe clinical manifestations, the disease was successfully controlled by combination therapy of oral prednisolone and dapsone. 相似文献
74.
IM Coronel‐Pérez EM Rodríguez‐Rey FM Camacho‐Martínez 《Journal of the European Academy of Dermatology and Venereology》2010,24(4):481-485
Objectives The aim of this study was to test the efficacy of latanoprost in eyelash alopecia areata (AA). Design This study is a 2‐year prospective, non‐blinded, non‐randomized, bilateral eyelash alopecia controlled study. Setting The setting of this study was Trichology Unit, Virgen Macarena University Hospital, Seville, Spain. Patients We conducted a survey of 54 subjects with AA universalis treated with the protocol of the Trichology Unit of our Department. Control group comprised 10 subjects who received injections of 0.5 mg/cm2 of triamcinolone acetonide (TAC) in their eyebrows and 1 mg/cm2 of TAC injections in affected scalp. The treatment group included 44 subjects who received the same treatment as the control group in scalp and eyebrows but they also applied a drop of latanoprost 0.005% (50 μg/mL) ophthalmic solution in their eyelid margins every night. Subjects were reviewed every 3 months for 2 years. Results Forty subjects finished the study and four subjects were lost to follow‐up. In the treatment arm of this study, the course was well tolerated and uncomplicated. Both investigators and patients evaluated the regrowth. The results we obtained were: complete regrowth in 17.5%, moderate regrowth in 27.5%, slight regrowth in 30% and without response in 25%. Moderate and total regrowth constituted a cosmetically acceptable response. The therapy was continuous and the response remained without any side effects. No patients had cosmetically acceptable eyelash regrowth in the control group. Conclusions Latanoprost may be an effective drug in the treatment of eyelash AA because it induces acceptable responses (total and moderate) in 45% of the patients. A formal, blinded prospective unilateral controlled study will permit further understanding about this promising therapeutic agent for eyelash AA. 相似文献
75.
Three-dimensional US of the fetus. Work in progress 总被引:5,自引:0,他引:5
76.
Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis 下载免费PDF全文
21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic mutations result from sequence exchanges involving the duplicated units. We now describe a comprehensive survey of CYP21 mutations in the British population, encompassing a screen for 17 different mutations in a total of 284 disease chromosomes. The most common mutations were as follows: large scale deletions/conversions (45% of the affected chromosomes), the intron 2 splice mutation (30.3%), R357W (9.8%), and I172N (7.0%). Mutations were detected in over 92% of the chromosomes examined, suggesting that accurate DNA based diagnosis is possible in most cases using the described strategy. In order to extend highly accurate prenatal diagnosis to all families where samples are available from a previously affected child, we have developed a linkage analysis approach using novel, highly informative microsatellite markers from the class III HLA region. 相似文献
77.
KY van Spaendonck‐Zwarts L van Hessem JDH Jongbloed HEK de Walle Y Capetanaki AJ van der Kooi IM van Langen MP van den Berg JP van Tintelen 《Clinical genetics》2011,80(4):354-366
van Spaendonck‐Zwarts KY, van Hessem L, Jongbloed JDH, de Walle HEK, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. Desmin‐related myopathy. Desmin‐related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We provide (i) a literature review on DRM, including clinical manifestations, inheritance, molecular genetics, myopathology and management and (ii) a meta‐analysis of reported DES mutation carriers, focusing on their clinical characteristics and potential genotype–phenotype correlations. Meta‐analysis: DES mutation carriers (n = 159) with 40 different mutations were included. Neurological signs were present in 74% and cardiological signs in 74% of carriers (both neurological and cardiological signs in 49%, isolated neurological signs in 22%, and isolated cardiological signs in 22%). More than 70% of carriers exhibited myopathy or muscular weakness, with normal creatine kinase levels present in one third of them. Up to 50% of carriers had cardiomyopathy and around 60% had cardiac conduction disease or arrhythmias, with atrioventricular block as an important hallmark. Symptoms generally started during the 30s; a quarter of carriers died at a mean age of 49 years. Sudden cardiac death occurred in two patients with a pacemaker, suggesting a ventricular tachyarrhythmia as cause of death. The majority of DES mutations were missense mutations, mostly located in the 2B domain. Mutations in the 2B domain were predominant in patients with an isolated neurological phenotype, whereas head and tail domain mutations were predominant in patients with an isolated cardiological phenotype. 相似文献
78.
E Fabiani C Catassi A Villari P Gismondi R Pierdomenico IM Rätsch GV Coppa PL Giorgi 《Acta paediatrica (Oslo, Norway : 1992)》1996,85(S412):65-67
In 1992–94 we screened 6315 students for coeliac disease (CD) by testing antigliadin antibodies (AGA) as the first-level investigation. We found 28 biopsy-proven coeliac patients who were invited to start the gluten-free diet (GFD). The aim of this study was a clinical and laboratory follow-up in these screening–detected coeliac adolescents. Patients were 17 females and 11 males with a mean age at diagnosis of 12.8 ± 1 years (range 11–14). Mean follow-up duration time was 23 ± 7 months (range 9–37). Twenty-three of the 28 screening-detected coeliac patients came to the control visit, 3 refused the follow-up and 2 subjects were not found. Twelve patients (52.2%) stated that they never ate any gluten-containing food, while 11 of them (47.8%) reported occasional transgressions to the diet. GFD acceptance was reported as good ( n = 6), moderate ( n = 11) or low ( n = 6). After starting the GFD, signs of improvement were seen in most patients, such as weight gain, increased height velocity and increased feeling of well-being. AGA (both IgG and IgA classes) and antiendomysium antibodies (AEA) were normal in 19 subjects, 2 cases had IgG-AG A and AEA positivity, 1 patient showed abnormal AGA and AEA levels, while isolated IgA-AGA positivity persisted in 1 case. This study shows that even silent CD cases can clinically benefit from the GFD. The consequences of occasional transgressions to the GFD remain unclear. 相似文献
79.
Fifteen patients with infantile bone and joint infections were studied immunologically and clinically, 3 at the time of illness and 12 later. Abnormality of immunoglobulins, or complement, or phagocytes was found in 9 patients; 6 were within normal limits for the tests undertaken. Immunodeficiency is probably responsible for the subdued clinical signs of infection and for delayed diagnosis in some patients. It was also related to the extent of femoral head damage in infective arthritis of the hip and to the incidence of wound infection in late elective surgery. 相似文献
80.
IM Balfour-Lynn I Martin BF Whitehead PG Rees MJ Elliott MR de Leval 《Archives of disease in childhood》1997,76(1):38-40
The outcome of patients with cystic fibrosis aged under 10 years referred for heart-lung transplantation assessment (n = 58) was determined and compared with older children (n = 109). Similar proportions were placed on to the active waiting list (64% v 71%) and received transplants (35% v 31%). Three year post-transplantation survival figures were also similar (41% v 46%), as were the figures for overall survival for those placed on to the active list (27% v 29%). Paediatricians should not be deterred from referring younger patients for transplantation. 相似文献