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Wolfgang Briegel Christina Hofmann K Otfried Schwab 《Journal of paediatrics and child health》2010,46(4):144-148
Aim: Moebius sequence is a rare condition usually defined as congenital facial paralysis with congenital impairment of ocular abduction. At present, there is little information on behavioural problems, parental stress and possible relationships between these factors. To fill this gap, this study investigated these aspects relevant for counselling. Methods: Parents of 4–17 year old subjects known to the German Möbius syndrome foundation were anonymously asked to fill out several questionnaires, for example, the Child Behavior Checklist (CBCL)4–18. Results: The primary care givers of 41/58 subjects (70.7%) sent back filled‐out questionnaires. Ten subjects did not meet the inclusion criteria; 15 males and 16 females (4; 7–17; 0 years, median age: 10; 7 years) were included. Ten out of 31 subjects were rated as clinical on at least one CBCL scale; three had a total problem score in the clinical range. Social problems were the most important problems with rates of 12–17‐year old subjects being about five times as high as those of younger subjects. Compared with the general population, but not with other parents of mentally and/or physically handicapped children, the primary care givers experienced higher levels of stress, which were correlated to anxious/depressed behaviour, aggressive behaviour, externalising problems and total problem score of the children. The older a child the higher the primary care giver's life satisfaction was. Conclusions: Social problems seem to be frequent among 4–17‐year old subjects with Moebius sequence, and primary care givers show increased strain. Therefore, families with an affected child need early and adequate support. 相似文献
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Fanconi-Bickel syndrome (FBS, OMIM #227810), a congenital disorder of carbohydrate metabolism, is caused by mutations in GLUT2 (SLC2A2), the gene encoding the glucose transporter protein-2. The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato- and nephromegaly, impaired utilization of glucose and galactose, proximal tubular nephropathy, rickets, and severe short stature. We report on two siblings with FBS and an unusually mild clinical course. A 9.5-year-old boy with failure to thrive was diagnosed at the age of 9 months, his younger sister (4.5 years) was investigated in the first months of life and also diagnosed with FBS. Both patients were found to be compound heterozygous for the novel GLUT2 (SLC2A2) mutations c.457_462delCTTATA (p.153_4delLI) and c.1250C>G (p.P417R). On a diet restricted in free glucose and galactose, both children showed normal growth. Hepatomegaly, nephromegaly and hypophosphatemic rickets have never been observed. Glucosuria and tubular proteinuria were only mild compared to previously reported patients with FBS. This report describes an unusually mild phenotype of FBS expanding the spectrum of this disease. Some clinical signs that have been considered hallmarks of FBS like hepatomegaly and short stature may be absent in this condition. As a consequence, clinicians will have to look for GLUT2 mutations even in patients with isolated glucosuria. 相似文献
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Holzer GW Coulibaly S Aichinger G Savidis-Dacho H Mayrhofer J Brunner S Schmid K Kistner O Aaskov JG Falkner FG Ehrlich H Barrett PN Kreil TR 《Vaccine》2011,29(24):4132-4141
Ross River Virus has caused reported outbreaks of epidemic polyarthritis, a chronic debilitating disease associated with significant long-term morbidity in Australia and the Pacific region since the 1920s. To address this public health concern, a formalin- and UV-inactivated whole virus vaccine grown in animal protein-free cell culture was developed and tested in preclinical studies to evaluate immunogenicity and efficacy in animal models. After active immunizations, the vaccine dose-dependently induced antibodies and protected adult mice from viremia and interferon α/β receptor knock-out (IFN-α/βR−/−) mice from death and disease. In passive transfer studies, administration of human vaccinee sera followed by RRV challenge protected adult mice from viremia and young mice from development of arthritic signs similar to human RRV-induced disease. Based on the good correlation between antibody titers in human sera and protection of animals, a correlate of protection was defined. This is of particular importance for the evaluation of the vaccine because of the comparatively low annual incidence of RRV disease, which renders a classical efficacy trial impractical. Antibody-dependent enhancement of infection, did not occur in mice even at low to undetectable concentrations of vaccine-induced antibodies. Also, RRV vaccine-induced antibodies were partially cross-protective against infection with a related alphavirus, Chikungunya virus, and did not enhance infection. Based on these findings, the inactivated RRV vaccine is expected to be efficacious and protect humans from RRV disease. 相似文献
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André van Maurik Nicolas Sabarth Helga Savidis Dacho Peter BrühlMichael Schwendinger Brian A. CroweP. Noel Barrett Otfried KistnerM. Keith Howard 《Vaccine》2010
Recent findings indicate that seasonal influenza vaccination or infection of healthy humans may contribute to heterosubtypic immunity against new influenza A subtypes, such as H5N1. Here, we investigated whether seasonal influenza vaccination in a mouse model could induce any immunity against the H5N1 subtype. It could be demonstrated that, largely due to the H1N1 component strain A/NewCaledonia/20/99, parenteral immunization of mice with a trivalent seasonal influenza vaccine elicited heterosubtype H5-reactive antibodies able to confer partial protection against H5N1 influenza virus infection. Furthermore, the trivalent seasonal influenza vaccine was found to be compatible with a whole virus H5N1 vaccine in a heterologous prime-boost immunization regimen, achieving superior efficacy compared to a single immunization with an equivalent low-dose of the H5N1 vaccine. 相似文献
39.
Oral contraception in adolescents with type 1 diabetes and its association with cardiovascular risk factors. A multicenter DPV study on 24 011 patients from Germany,Austria or Luxembourg 下载免费PDF全文
40.
Manuela Popek Melanie Walter Malkanthi Fernando Martin Lindner Karl Otfried Schwab Jörn Oliver Sass 《Clinica chimica acta; international journal of clinical chemistry》2010,411(23-24):2087-2091
BackgroundGlutaric aciduria type 1 (GA1) is an inborn error in the metabolism of the amino acids tryptophan, lysine and hydroxylysine due to mutations in the GCDH gene coding for glutaryl-CoA dehydrogenase. Affected individuals often suffer from an encephalopathic crisis in infancy or childhood which results in acute striatal injury leading to a severe dystonic–dyskinetic movement disorder. Isobutyryl-coenzyme dehydrogenase (IBD) is an enzyme encoded by the ACAD8 gene and involved in the catabolism of the branched-chain amino acid valine. Both GA1 and IBD deficiency can be detected by expanded newborn screening using tandem-mass spectrometry, if they are considered screening targets.MethodsTandem-mass spectrometry and gas-chromatography with mass-selective detection were used for the assessment of key metabolites in body fluids of a patient with abnormal findings in newborn screening. Mutations were investigated by direct sequencing and by restriction fragment lengths analysis. Valine metabolism was studied in vitro in immortalized lymphocytes.ResultsFollowing accumulation of acylcarnitines C5DC and C4, of 3-hydroxyglutaric acid and isobutyrylglycine in body fluids, sequence analysis in the GCDH gene revealed homozygosity for a missense mutation in exon 6, c.482G > A, p.Arg161Gln, which had been reported in GA1 before. In the ACAD8 gene a novel mutation c.841+3G > C was identified, which results in loss of exon 7 and predicts a premature stop of translation. Impaired valine degradation was corroborated by the increased post-load level of acylcarnitine C4 in lymphocytes.ConclusionThe molecular basis of two inborn errors of metabolism in a newborm was elucidated. The metabolite studies underline the use of urinary C4 acylcarnitine as a sensitive marker of IBD deficiency. A functional test of IBD activity in lymphocytes may replace more invasive fibroblast studies. In view of the combination of two organic acidurias, which may both affect the level of free carnitine, careful follow-up including regular assessment of the carnitine status of the patient appears prudent. 相似文献