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431.
S. J. Steinberg A. Snowden N. E. Braverman L. Chen P. A. Watkins P. T. Clayton K. D. R. Setchell J. E. Heubi G. V. Raymond A. B. Moser H. W. Moser 《Journal of inherited metabolic disease》2009,32(1):109-119
Summary Zellweger spectrum disorders (ZSD) are diagnosed by biochemical assay in blood, urine and cultured fibroblasts and PEX gene
mutation identification. In most cases studies in fibroblasts corroborate results obtained in body fluids. In 1996 Clayton
and colleagues described a 10-year old girl with evidence of a peroxisome disorder, based on elevated bile acid metabolites
and phytanate. At the time it was not possible to distinguish whether she had a ZSD or a single peroxisomal protein defect.
Studies in our laboratory showed that she also had elevated plasma pipecolate, supporting the former diagnosis. Despite the
abnormal metabolites detected in blood (phytanate, bile acid intermediates and pipecolate), analysis of multiple peroxisomal
pathways in fibroblasts yielded normal results. In addition, she had a milder clinical phenotype than usually associated with
ZSD. Since complementation analysis to determine the gene defect was not possible, we screened this patient following the
PEX Gene Screen algorithm (PGS). The PGS provides a template for sequencing PEX gene exons independent of complementation
analysis. Two mutations in PEX10 were identified, a frameshift mutation inherited from her father and a de novo missense mutation in a conserved functional domain on the other allele. This case highlights that molecular analysis may
be essential to the diagnosis of patients at the milder end of the ZSD spectrum. Furthermore, it supports the concept that
some tissues are less affected by certain PEX gene defects than brain and liver.
Competing interests: None declared
References to electronic databases: PEX Gene Database (dbpex) . Ensembl: ENST00000288774. 相似文献
432.
433.
Supritha Naik BDS MSc Christopher J. Tredwin BDS BSc MSc MFDS RCS FDS RCS FHEA Michael Nesbit MSc FHEA Derrick J. Setchell BDS MS FDS RCS FDS RCS FHEA & David R. Moles PhD BDS MSc MSc DDPH RCS FHEA 《Journal of prosthodontics》2009,18(3):245-248
Purpose: Factors affecting the retention of fixed prostheses to natural abutments are well understood. In contrast, little is known concerning the factors influencing the retention of fixed prostheses cemented to implant abutments. The purpose of this study was to investigate the effect that extending a casting into the screw access channel of an implant abutment has on the retention when cemented using Temp Bond.
Materials and Methods: Replace Select Straight abutments received set modifications (buccal wall removal at 15°, 22°, and 30°) using a milling machine; controls were unmodified. Two castings were fabricated for each of the modified abutments, one with and one without an extension into the screw access channel. Following cementation with Temp Bond under standardized conditions, the castings were removed from the abutments using an Instron machine, and the peak removal force was recorded.
Results: Extending the casting into the screw access channel significantly ( p < 0.001) increased the peak load of removal. Significant differences ( p < 0.05) were found between no modification and 30° modification, 15° and 30° modification, and 22° and 30° modification in the groups when the casting extended into the abutment. In the group where the casting did not extend into the abutment, all groups were significantly different ( p < 0.001) with the exception of 22° and 30° modification.
Conclusions: The increased load required to remove a casting that extends into the screw access channel of an implant abutment may compensate for loss in retention, which occurs through unfavorable modification of the abutment. 相似文献
Materials and Methods: Replace Select Straight abutments received set modifications (buccal wall removal at 15°, 22°, and 30°) using a milling machine; controls were unmodified. Two castings were fabricated for each of the modified abutments, one with and one without an extension into the screw access channel. Following cementation with Temp Bond under standardized conditions, the castings were removed from the abutments using an Instron machine, and the peak removal force was recorded.
Results: Extending the casting into the screw access channel significantly ( p < 0.001) increased the peak load of removal. Significant differences ( p < 0.05) were found between no modification and 30° modification, 15° and 30° modification, and 22° and 30° modification in the groups when the casting extended into the abutment. In the group where the casting did not extend into the abutment, all groups were significantly different ( p < 0.001) with the exception of 22° and 30° modification.
Conclusions: The increased load required to remove a casting that extends into the screw access channel of an implant abutment may compensate for loss in retention, which occurs through unfavorable modification of the abutment. 相似文献
434.
Benn KD Sartorius Kathleen Kahn Penelope Vounatsou Mark A Collinson Stephen M Tollman 《BMC public health》2010,10(1):645
Background
Infant mortality is an important indicator of population health in a country. It is associated with several health determinants, such as maternal health, access to high-quality health care, socioeconomic conditions, and public health policy and practices. 相似文献435.
436.
Jing Zhao Ling-Juan Fang Kenneth DR Setchell Rui Chen Li-Ting Li Jian-She Wang 《World journal of gastroenterology : WJG》2012,18(47):7113-7117
Aldo-keto reductase 1D1 (AKR1D1) deficiency, a rare but life-threatening form of bile acid deficiency, has not been previously described in China. Here, we describe the first two primary ∆4-3-oxosteroid 5β-reductase deficiency patients in Mainland China diagnosed by fast atom bombardment-mass spectroscopy of urinary bile acids and confirmed by genetic analysis. A high proportion of atypical 3-oxo-∆4-bile acids in the urine indicated a deficiency in ∆4-3-oxosteroid 5β-reductase. All of the coding exons and adjacent intronic sequence of the AKR1D1 gene were sequenced using peripheral lymphocyte genomic DNA of two patients and one of the patient’s parents. One patient exhibited compound heterozygous mutations: c.396C>A and c.722A>T, while the other was heterozygous for the mutation c.797G>A. Based on these mutations, a diagnosis of primary ∆4-3-oxosteroid 5β-reductase deficiency could be confirmed. With ursodeoxycholic acid treatment and fat-soluble vitamin supplements, liver function tests normalized rapidly, and the degree of hepatomegaly was markedly reduced in both patients. 相似文献
437.
Arman C Quintana Casares PI Sanchez-Partida LG Setchell BP 《Asian journal of andrology》2006,8(4):411-418
目的:研究用计算机辅助的精液分析(CASA)技术辅助测量得到的精子运动特征是否比手动检测得到的活动的、快速的或前进的细胞百分比能更敏感地指示精液质量下降。方法:6只公羊每天进行16 h 间歇性阴囊隔离,持续21天,对其中2只在次年进行每天12 h 的间歇性阴囊隔离,持续28天。收集其精液并立即进行 CASA 评估,然后冷冻或在30℃或5℃的条件下储藏,用于再次评估。结果:间歇性阴囊隔离导致运动的、快速的和前进的精子百分比下降,与冷冻—解冻或储存在30℃或5℃下的情况相同。只有当运动精子的百分比下降时,通过 CASA 测定的精子能动性(精子侧摆幅度、平均路径速度、平均前进速度和轨迹速度)才降低。冷冻—解冻或液态储存导致从阴囊隔离公羊的精液中有运动能力和快速的精子百分比较之对照组下降幅度更大,但是仅在有运动能力的精子百分比下降时才影响精子的运动特征。结论:间歇性阴囊隔离不仅影响新鲜收集的精子运动,而且影响其抵抗外界储存压力的能力。而通过 CASA技术获得的其他关于运动特征的数据仅是精液质量下降时运动细胞百分比的一个敏感指示。 相似文献
438.
Informed consent for intravascular administration of contrast material: how much is enough? 总被引:1,自引:0,他引:1
To determine the usefulness of informed consent prior to the intravascular administration of contrast material, the authors evaluated four equal groups of patients with different degrees of counseling concerning risks and risk factors. Group 1 was given no information. Group 2 was informed of the common risks in a written statement. Group 3 was informed of all known risks in a written statement. Group 4 was informed of all known risks by means of physician counseling. The average times it took for the technologist (groups 1-3) or the physician (group 4) to counsel the patient and obtain informed consent were 1.7, 6.2, 13.6, and 11.4 minutes, respectively. Counseling by physicians would require approximately 7% of their professional time in a busy radiology department. On a postprocedure test, the patients in groups 1-4 scored on average 38.4%, 68.2%, 63.2%, and 69.8%, respectively. There was no statistical difference in the performance of groups 2-4 on the postprocedure test. If informed consent is to be obtained prior to intravascular administration of contrast material, use of a straightforward written consent form detailing the common risks and risk factors appears to be the best method. 相似文献
439.
440.
To ascertain whether temporal changes in activity of the hypothalamo-pituitary axis in prepubertal bulls may occur independently of shifts in sensitivity to steroid feedback, the acute post-castration rise in serum gonadotrophins was monitored in bull calves castrated at monthly intervals from 4 to 9 months of age. Since a major feature of the gonadotrophin profiles of developing bulls is a change in LH pulse frequency early in life, pulsatile LH secretion after castration was used as an index of activity of the central LH-releasing hormone (LHRH) pulse generator. Relative to the day of castration (day 0) bull calves (n = 4) were bled at 20-min intervals for 8 h on day -3 and at 10-min intervals for 4 h on days 3, 5 and 7. During the first week after castration, 4-month-old bulls showed a higher (P less than 0.05) frequency of LH pulses compared with bulls at 8 and 9 months (1.13, 0.88 and 0.75 pulses/h respectively; pooled S.E.M. = 0.13). Mean LH levels before castration were higher (P less than 0.05) in 4-month-old bulls than in bulls at 7, 8 and 9 months (0.92, 0.37, 0.31, 0.38 micrograms/l respectively; pooled S.E.M. = 0.12). After castration mean LH levels did not differ with age. Mean FSH levels did not differ among age groups either before or after castration. Increased serum LH levels in 4-month-old bulls confirmed the transient rise in LH secretion that occurs at this time in developing bull calves.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献