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51.
Sourour Neji Fattouma Makni Fatma Cheikhrouhou Amira Sellami Hayet Sellami Slaheddine Marreckchi Hamida Turki Ali Ayadi 《Mycoses》2009,52(6):534-538
The distribution of dermatophytes varies in different countries and geographical areas depending on several factors. To determine the frequency of aetiological agents and the clinical variants of dermatophytoses, we carried out a study between 1998 and 2007. Out of 25 432 subjects suspected to have superficial mycoses, 9960 (39.2%) were affected with dermatophytoses; 14957 positive samples were obtained. The mean age was 35.7 years (range: 21 days to 97 years). Sex ratio was 0.9. Our patients were from urban regions in 81.9% of cases. The most common type of infection was onychomycosis (30.3%), followed by tinea pedis (24.8%), intertrigo (21.7%), tinea corporis (11.4%) and tinea capitis (9.6%). Fifteen patients had generalised dermatophytosis. Hadida and Schousboe disease was diagnosed in one case with lethal evolution. The most isolated dermatophyte was Trichophyton rubrum (74.5%), followed by T. violaceum (7.9%), T. mentagrophytes (7.5%), Microsporum canis (3.8%), Epidermophyton floccosum (0.7%) and T. verrucosum (0.54%). Other species were occasionally isolated: T. schoenleinii , T. tonsurans , M . audouinii and M. ferrugineum . The prevalence of dermatophytoses remains high in our country (996 cases/year). Trichophyton rubrum is the predominant causal agent. However, zoophilic agents become more prevalent. Epidemiological surveys are an essential tool for developing strategies for infection control. 相似文献
52.
N G Laing A P Walker P A Akkari D C Chandler M G Layton M E Mears T Yamada R J Bartlett M A Pericak-Vance W Y Hung 《Prenatal diagnosis》1991,11(1):63-67
The majority of Duchenne and Becker muscular dystrophy cases are caused by deletions observable in Southern blots with cDNA probes for the gene. When the deletion includes polymorphic probes, they may be used to determine carrier status by deletion segregation analysis: non-inheritance of parental alleles, or heterozygosity. The polymorphic genomic probe P20 is deleted in a large percentage of probands. P20 hybridizes with two constant fragments of 6.7 and 0.8 kb in Taql digests. In a number of probands, only the larger P20 Taql fragment is deleted. This study demonstrates that this fragment corresponds with the polymorphic EcoRV and Mspl fragments of P20. Families in which the upper Taql fragment is deleted may be screened for carrier status using non-inheritance of parental alleles or heterozygosity of P20 in EcoRV or Mspl digests. 相似文献
53.
Sri Harsha Tella Hayet Amalou Bradford J Wood Richard Chang Clara C Chen Cemre Robinson Michelle Millwood Lori C Guthrie Sheng Xu Elliot Levy Venkatesh Krishnasamy Rachel I Gafni Michael T Collins 《Journal of bone and mineral research》2017,32(11):2248-2256
Tumor‐induced osteomalacia (TIO) is a debilitating paraneoplastic condition caused by small phosphaturic mesenchymal tumors (PMTs) that secrete large amounts of the phosphate‐regulating and vitamin D‐regulating hormone, FGF23. Tumor removal results in cure. However, because of high perioperative comorbidity, either from tumor location or host factors, surgery is sometimes not an option. Tumor destruction via cryoablation may be an effective option for inoperable PMTs. Three subjects with a confirmed diagnosis of TIO were studied. All three underwent cryoablation of suspected PMTs rather than surgery due to significant medical comorbidities or challenging anatomical location. Subject 3 had tumor embolization 24 hours prior to cryoablation because of the size and hypervascularity of the tumor. The success of the tumor cryoablation was defined by normalization of serum phosphate and FGF23. Cryoablation resulted in a rapid decrease in plasma intact FGF23 by 24 hours postprocedure in all three subjects (0, 2, and 9 pg/mL, respectively) with normalization of blood phosphate by postprocedure day 3. Three‐day renal tubular reabsorption of phosphate increased to 76%, 94%, and 95.2%, respectively; 1, 25(OH)2 vitamin D increased to 84, 138, and 196 pg/ml, respectively. All three had dramatic clinical improvement in pain and weakness. Two subjects tolerated the procedure well with no complications; one had significant prolonged procedure‐related localized pain. Although surgery remains the treatment of choice, cryoablation may be an effective, less invasive, and safe treatment for patients with difficult to remove tumors or who are poor surgical candidates. © 2017 American Society for Bone and Mineral Research. 相似文献
54.
Lianna Ishihara Rachel A Gibson Liling Warren Rim Amouri Kelly Lyons Catherine Wielinski Christine Hunter Jina E Swartz Ramu Elango P Anthony Akkari David Leppert Linda Surh Kevin H Reeves Siwan Thomas Leigh Ragone Nobutaka Hattori Rajesh Pahwa Joseph Jankovic Martha Nance Alan Freeman Neziha Gouider-Khouja Mounir Kefi Mourad Zouari Samia Ben Sassi Samia Ben Yahmed Ghada El Euch-Fayeche Lefkos Middleton David J Burn Ray L Watts Faycal Hentati 《Movement disorders》2007,22(1):55-61
Mutations in the leucine-rich repeat kinase-2 gene (LRRK2) are responsible for some forms of familial as well as sporadic Parkinson's disease (PD). The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G > A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation. Standardized case report forms were used for clinical and demographic data collection. We investigated the frequency of the most common substitution of LRRK2 (G2019S, 6055G>A) and its impact on epidemiological and phenotypic features. The frequency of mutations in Tunisian families was 42% (38/91) and in U.S. families 2.6% (1/39), with the unique opportunity to compare homozygous (n = 23) and heterozygous (n = 109) Tunisian carriers of G2019S substitutions. Individuals with G2019S substitutions had an older age at onset but few other differences compared with families negative for the substitution. Patients with LRRK2 mutations had typical clinical features of PD. Comparisons between individuals with heterozygous and homozygous LRRK2 mutations suggested that gene dosage was not correlated with phenotypic differences; however, the estimated penetrance was greater in homozygotes across all age groups. 相似文献
55.
Lavenir Lucas Zemiti Nabil Akkari Mohamed Subsol Gérard Venail Frédéric Poignet Philippe 《Annals of biomedical engineering》2021,49(5):1308-1317
Annals of Biomedical Engineering - Cochlear implantation consists in electrically stimulating the auditory nerve by inserting an electrode array inside the cochlea, a bony structure of the inner... 相似文献
56.
Marcos Vaz de Lima Fabiana Vaz de Lima Miguel Akkari Vanessa Ribeiro de Resende Claudio Santili 《Medicine》2015,94(47)
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder that leads to bone weakness and deformities, especially in the spine, which can lead to poor outcomes.The aim of this study was to find patterns and risk factors in spinal deformities in patients with OI.In a retrospective study, 70 patients with OI were selected. Radiographs of the spine were evaluated. We observed the presence or absence of the following changes: biconcave vertebrae, chest and vertebral deformities, unilateral rib, and thoracolumbar kyphosis. The greater curve was considered the primary one, and the secondary curve considered compensatory.In the study sample, we observed that the patients’ ages ranged between 7 and 50 years, with a mean equal to 13 years, and 76% had scoliosis. In 68% of cases the main curve in the thoracic region was observed with the convexity to the right.The following was found in patients with OI: scoliosis, biconcave vertebrae, vertebral and chest deformity, unilateral rib, and thoracolumbar kyphosis. The thoracolumbar kyphosis is highly associated with thoracic hypokyphosis in patients with OI. 相似文献
57.
BACKGROUND: Dermatomyositis (DM) is a rare but serious disease. The aim was to evaluate the epidemiology, presenting clinical manifestations, therapeutic features and outcome of patients with DM. METHODS: From January 1986 to December 2003, we collected retrospectively cases of DM identified at the dermatology department of Habib Thameur hospital. We included only patients with definitive diagnosis of DM. RESULTS: We included 13 patients, mean aged 32.85 years: 9 adults and 4 children. We identified 9 cases of adult DM among them 2 cases of wiihich were of paraneoplastic DM and 4 cases of juvenile DM among them 1 case of amyopathic DM and 1 case of DM associated with connective tissue disease. The evolution of DM followed the course of the neoplasm for the 2 patients with paraneoplastic DM. All patients received corticotherapy initially. Patients were followed-up for an average of 3 years (2 months to 10 years). We found no serious repercussions on the growth of children with juvenile DM. CONCLUSION: DM is rare in Tunisia. In our study, its frequency is about 0.72 patients per year. Age of onset of DM is markedly smaller than the one reported in the relevant litterature. Our 2 cases of DM associated with cancer are considered like really paraneoplastic. Juvenile DM seems to have a relatively good prognosis. 相似文献
58.
Karima Boubaker Soumaya Boubaker Mondher Ounissi Amel Harzallah Fethi El Younsi Hayet Kaaroud Ezzedine Abderrahim Taieb Ben Abdallah Fethi Khédhiri Hédi Ben Maïz Adel Kheder 《Néphrologie & thérapeutique》2010,6(4):248-250
IntroductionGastrointestinal angiodysplasia is a very common cause of digestive haemorrhage among patients with chronic renal insufficiency. It is well known that bleeding from angiodysplasias can be a difficult therapeutic problem since therapeutic possibilities are scarce and surgery is scolded with high mortality rate. Endoscopic argon plasma ablation therapy is a new, effective and safe treatment in the management of gastrointestinal angiodysplasia.Case reportWe reported a case of a female haemodialysis patient aged 40 years. She was haemodialysed since 6 years in our center from unknown nephropathy. In March 2006, she complained of black stools and melena, and developed severe anaemia (Haemoglobin at 4 g/dL). Exploratory endoscope examination of the digestive tract showed the presence of bleeding from angiodysplastic lesions of the right colon. The patient had severe clinical picture extension of angiodysplastic lesions and frequent bleeding episodes. Bleeding arrest was observed after argon plasma coagulation, with a significant decrease of blood transfusions and improvement of anaemia.ConclusionGastrointestinal angiodysplasia was reported to be an important complication in dialysis patients and was recognized as an important cause of erythropoietin-resistant anaemia. It can worsen vital prognosis. Argon plasma coagulation is an effective treatment in these patients. 相似文献
59.
Nascimento FP Santili C Akkari M Waisberg G Reis Braga SD de Barros Fucs PM 《Journal of children's orthopaedics》2010,4(1):53-60
Purpose
To evaluate the safety and period of hospitalization of the treatment of femoral shaft fractures with titanium elastic nails (TEN) in the age range 5 to 14 years. The hypothesis was that TEN might be a low-cost treatment, with good clinical results and short length of hospitalization. 相似文献60.
Christoph Baerwald Paolo Verdecchia Brigitte Duquesroix Hayet Frayssinet Thierry Ferreira 《Arthritis \u0026amp; Rheumatology》2010,62(12):3635-3644