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排序方式: 共有841条查询结果,搜索用时 31 毫秒
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Rene S. Hendriksen Pimlapas Leekitcharoenphon Matthew Mikoleit Jacob Dyring Jensen Rolf Sommer Kaas Louise Roer Heena B. Joshi Srirat Pornruangmong Chaiwat Pulsrikarn Gladys D. Gonzalez-Aviles E. Ascelijn Reuland Nashwan Al Naiemi Astrid Louise Wester Frank M. Aarestrup Henrik Hasman 《Journal of clinical microbiology》2015,53(2):677-680
One unreported case of extended-spectrum-beta-lactamase (ESBL)-producing Salmonella enterica serovar Typhi was identified, whole-genome sequence typed, among other analyses, and compared to other available genomes of S. Typhi. The reported strain was similar to a previously published strain harboring blaSHV-12 from the Philippines and likely part of an undetected outbreak, the first of ESBL-producing S. Typhi. 相似文献
3.
Valtter B. Virtanen Perttu P. Salo Jia Cao Anna Löf-Granström Lili Milani Andres Metspalu Risto J. Rintala Outi Saarenpää-Heikkilä Tiina Paunio Tomas Wester Agneta Nordenskjöld Markus Perola Mikko P. Pakarinen 《European journal of medical genetics》2019,62(4):229-234
The pathogenesis of Hirschsprung disease is complex. Although the RET proto-oncogene is the most frequently affected gene in Hirschsprung disease, rare coding sequence variants explain only a small part of Hirschsprung disease cases. We aimed to assess the genetic background of Hirschsprung disease using a genome-wide association analysis combined with sequencing all RET exons in samples from 105 Hirschsprung disease cases (30 familial and 75 sporadic) and 386 controls.As expected, variants in or near RET showed the strongest overall association with Hirschsprung disease and the most statistically significant association was observed when using a recessive genetic model (rs2435357, NC_000010.10:g.43582056T?>?C; genotype TT, OR?=?17.31, P?=?1.462?×?10?21). Previously published associations in variants in SEMA (rs11766001, NC_000007.13:g.84145202A?>?C; allele C, OR?=?2.268, P?=?0.009533) and NRG1 (rs4541858, NC_000008.10:g.32410309A?>?G; allele G, OR?=?1.567, P?=?0.015; rs7835688, NC_000008.10:g.32411499G?>?C; allele C, OR?=?1.567, P?=?0.015) were also replicated in the genome-wide association analysis. Sequencing revealed a total of 12 exonic RET rare variants. Of these, eight amino acid changing rare variants and two frameshift variants caused or possibly caused Hirschsprung disease.Only a minority of the Hirschsprung disease cases (9/30 familial; 7/75 sporadic) carried one of the rare variants. Excluding the rare variant carriers from the genome-wide association analysis did not appreciably change the association of rs2435357 with Hirschsprung disease. We estimate that approximately two thirds of the sporadic cases may be statistically attributed to the recessive action of the common non-coding RET variants. Thus, even though most cases do not carry rare RET variants, combinations of rare variants and the common non-coding RET variant cause the majority of the cases in our population. 相似文献
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Anna Löf Granström Ellen Markljung Katharina Fink Edvard Nordenskjöld Daniel Nilsson Tomas Wester Agneta Nordenskjöld 《Journal of pediatric surgery》2014
Purpose
We identified a girl with Hirschsprung’s disease (HSCR) whose mother and grandmother had HSCR associated with multiple sclerosis (MS). The aim of this study was to outline mutations in HSCR-related genes and MS susceptibility alleles in these three individuals.Methods
The phenotypes were reviewed based on medical records. The three subjects had rectosigmoid HSCR verified with histopathology. The mother and grandmother fulfilled the McDonald criteria for MS. DNA was isolated from EDTA-preserved blood according to standard procedures. Exome sequencing aiming mainly at analyzing HSCR associated genes as well as Sanger sequencing for confirmation was performed.Results
All affected individuals carry a novel heterozygous nonsense mutation in the EDNRB gene (c.C397T,p.R133X,refNM_000115), changing an arginine at position 133 into a premature stop codon. None of the subjects were homozygous for the HLA risk alleles for MS.Conclusion
We report a novel non-sense EDNRB gene mutation in a girl with HSCR and her mother and grandmother with HSCR and MS. We propose that this EDNRB gene mutation plays a role in the etiology of HSCR and also makes the subjects susceptible to MS. 相似文献6.
7.
The effect of gestational age on clinical and radiological presentation of necrotizing enterocolitis
Elena Palleri Ida Aghamn Tomas S. Bexelius Marco Bartocci Tomas Wester 《Journal of pediatric surgery》2018,53(9):1660-1664
Background/purpose
To test the hypothesis that clinical and radiological features of necrotizing enterocolitis vary with gestational age in all neonates with NEC and in subgroup of surgically treated patients.Methods
This was a retrospective study case series. NEC cases treated in Stockholm County from 2009 to 2014 were identified in the National Quality Register. Patients were included in the study if they had a verified NEC diagnosis and they were divided into 2 groups according to the gestational age.Results
A total of 89 patients were included. Of these 60 (67.4%) neonates had a gestational age < 28 and 29 (32.6%) infants ≥ 28 weeks. Surgical NEC patients were 57 (64%). Pneumatosis intestinalis at the abdominal radiographs was noted significantly more often in neonates born at ≥ 28 weeks of gestation (86.2%) compared to extremely preterm newborns (60.0%). Neonates born at ≥ 28 weeks of gestation presented more often bloody stools (58.6%) compared to extremely preterm newborns (20.0%). In surgical NEC patients gasless abdomen was detected in 35.6% of the neonates born < 28 weeks compared to 6.7% of the more mature neonates.Conclusions
Extremely preterm neonates with NEC show less specific clinical and radiological signs of NEC compared to more mature neonates. This suggests that Bell's classification is not adequate for the diagnosis and staging of NEC in extremely preterm neonates.Level of evidence
III. 相似文献8.
Helena Wigander Björn Frenckner Tomas Wester Margret Nisell Maria Öjmyr-Joelsson 《Pediatric surgery international》2014,30(4):401-406
Purpose
Children with anorectal malformation or Hirschsprung’s Disease (HD) often have functional problems with constipation or incontinence. The Hirschsprung’s Disease/Anorectal malformation Quality of life Questionnaire (HAQL) developed in the Netherlands is a disease-specific instrument measuring the quality of life (QoL) of children and adolescents with fecal incontinence. HAQL includes several domains with questions concerning diet, laxatives, constipation, diarrhea, urine and fecal incontinence, in addition to social and emotional functioning, body image, and physical symptoms. The purpose of the study was to translate and culturally adapt the HAQL questionnaire into Swedish.Method
The translation was carried out according to accepted translation guidelines and a backward/forward translation method was used.Results
The translation correlated well with the original. All in all the Swedish and the Dutch versions agreed well. The Swedish translators chose to use a more simplified language in the questionnaires intended for the children, but used another choice of words in the proxy version and the adolescents’ version.Conclusions
The translation of the HAQL instrument into Swedish gives us a disease-specific QoL instrument for children and adolescents born with HD and anorectal malformations (ARM). The translated and culturally adapted HAQL instrument is included in a survey regarding children and adolescents born with ARM. 相似文献9.
Alexander Stahl Hinrich Wieder Morand Piert Hans-Jürgen Wester Reingard Senekowitsch-Schmidtke Markus Schwaiger 《Molecular imaging and biology》2004,6(4):214-224
Growing knowledge of the molecular mechanisms of oncological disease plays a key role in the improvement of prevention, diagnosis and treatment of malignant tumors. In this review, positron emission tomography (PET) is described as a mediator between molecular oncological research and clinical management of tumor patients. The most promising applications of PET in the near future include tumor imaging with newly developed tracers for diagnosis, staging and grading purposes, therapy monitoring with proliferation and apoptosis markers and definition of the tumor environment (e.g. hypoxia, neoangiogenesis) prior to therapy. Many of these applications will greatly benefit from the use of integrated PET/CT due to its precise spatial and morphological assignment of functional information. In conclusion, PET is both capable and necessary for the transference of new biological knowledge to clinical practice. Thus, PET constitutes a strong basis for an advanced and individually tailored approach to tumor patients. 相似文献
10.
Sven Blomqvist Josefine Olsson Louise Wallin Anita Wester Börje Rehn 《Research in developmental disabilities》2013,34(1):198-206
For adolescent people with ID, falls are more common compared to peers without ID. However, postural balance among this group is not thoroughly investigated. The aim of this study was to compare balance and muscle performance among adolescents aged between 16 and 20 years with a mild to moderate intellectual disability (ID) to age-matched adolescents without ID. A secondary purpose was to investigate the influence of vision, strength, height and Body Mass Index (BMI) on balance. A group of 100 adolescents with ID and a control group of 155 adolescents without ID were investigated with five balance tests and three strength tests: timed up and go test, one leg stance, dynamic one leg stance, modified functional reach test, force platform test, counter movement jump, sit-ups, and Biering-Sørensen trunk extensor endurance test. The results showed that adolescents with an ID in general had significantly lower scores in the balance and muscle performance tests. The group with ID did not have a more visually dominated postural control compared to the group without ID. Height, BMI or muscle performance had no strong correlations with balance performance. It appears as if measures to improve balance and strength are required already at a young age for people with an ID. 相似文献