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An infant with X-linked recessive ornithine transcarbamylase deficiency is described who also had severe deficiency of plasma and liver carnitine during normoammonemic periods. Treatment with L-carnitine (100 mg/kg/day) for 12 months decreased the frequency of hospitalizations for hyperammonemia, although it did not alter his neurologic status. This report demonstrates that persistent carnitine deficiency may be present in patients with ornithine transcarbamylase deficiency even when plasma ammonia is normal. Carnitine evaluation and supplementation may be important in the treatment of patients with this metabolic disorder. 相似文献
3.
Spectrum of pulmonary nontuberculous mycobacterial infection 总被引:5,自引:0,他引:5
4.
During the period from May 1992 until April 1993, 108 patients were admitted to Liverpool Hospital with Injury Severity Scores (ISS) > 15. Temperatures had been recorded in 100. Of these, 17 had a core temperature of less than 35°C documented within 24 h of arrival. The hypothermic group presented with more severe injuries and contained a disproportionate number of females. Hypothermia was found to be more common in the winter months, but it was not associated with a delay in reaching hospital from the time of injury. When injuries were ranked by ISS, both hypothermic and normothermic patients were equally likely to have received a blood transfusion; however, the mean number of units of packed cells transfused was greater for the hypothermic group with ISS < 41 than for the similarly injured normothermic group. Two patients in the hypothermic group had sustained bums, and both of these were hypothennic on arrival. All of the hypothermic patients who required surgery developed hypothermia in the operating theatre. 相似文献
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6.
Background Parenting programmes are a key component of the delivery of children's services, but evidence-based policy has often proved difficult to implement.
Methods The present review addressed this issue by integrating a review of systematic reviews of parenting programmes and a series of focus groups with parents and professionals involved in parenting across three agencies in a regional area (health, education and social work). The review summarizes parenting interventions targeting infant mental health, emotional and behavioural difficulties, autism spectrum disorder and attention deficit hyperactivity disorder, abuse/neglect, alcohol/substance abuse and 'vulnerable' parents. The focus groups discussed topics such as the range of parenting services across the three agencies, accessibility, gaps in the service and future directions.
Results and conclusions Twenty systematic reviews were summarized. These reviews demonstrated that there is a wide range of parenting programmes available that have the potential to benefit families who are affected by problems ranging from emotional and behavioural difficulties to adolescent substance abuse. However, the findings of the focus groups reveal that the success of these programmes will depend in part on how they can be tailored to meet the social context of the families targeted. These integrated findings are discussed in terms of their implications for policy and practice. 相似文献
Methods The present review addressed this issue by integrating a review of systematic reviews of parenting programmes and a series of focus groups with parents and professionals involved in parenting across three agencies in a regional area (health, education and social work). The review summarizes parenting interventions targeting infant mental health, emotional and behavioural difficulties, autism spectrum disorder and attention deficit hyperactivity disorder, abuse/neglect, alcohol/substance abuse and 'vulnerable' parents. The focus groups discussed topics such as the range of parenting services across the three agencies, accessibility, gaps in the service and future directions.
Results and conclusions Twenty systematic reviews were summarized. These reviews demonstrated that there is a wide range of parenting programmes available that have the potential to benefit families who are affected by problems ranging from emotional and behavioural difficulties to adolescent substance abuse. However, the findings of the focus groups reveal that the success of these programmes will depend in part on how they can be tailored to meet the social context of the families targeted. These integrated findings are discussed in terms of their implications for policy and practice. 相似文献
7.
Localization of a gene for otosclerosis to chromosome 15q25-q26 总被引:5,自引:0,他引:5
Tomek MS; Brown MR; Mani SR; Ramesh A; Srisailapathy CR; Coucke P; Zbar RI; Bell AM; McGuirt WT; Fukushima K; Willems PJ; Van Camp G; Smith RJ 《Human molecular genetics》1998,7(2):285-290
Among white adults otosclerosis is the single most common cause of hearing
impairment. Although the genetics of this disease are controversial, the
majority of studies indicate autosomal dominant inheritance with reduced
penetrance. We studied a large multi- generational family in which
otosclerosis has been inherited in an autosomal dominant pattern. Five of16
affected persons have surgically confirmed otosclerosis; the remaining nine
have a conductive hearing loss but have not undergone corrective surgery.
To locate the disease- causing gene we completed genetic linkage analysis
using short tandem repeat polymorphisms (STRPs) distributed over the entire
genome. Multipoint linkage analysis showed that only one genomic region, on
chromosome 15q, generated a lod score >2.0. Additional STRPs were typed
in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and
D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis
gene.
相似文献
8.
Identification and order of sequential mutations in beta-actin genes isolated from increasingly tumorigenic human fibroblast strains. 总被引:11,自引:1,他引:10
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C S Lin S Y Ng P Gunning L Kedes J Leavitt 《Proceedings of the National Academy of Sciences of the United States of America》1985,82(20):6995-6999
We have sequenced the mutant beta-actin gene of a tumorigenic human fibroblast cell line (HuT-14T) and found that it carries three mutations that alter the amino acids at positions 36, 83, and 244 as well as a 22-base-pair "insertion" sequence, in the 5' intron, not present in a wild-type gene. The less tumorigenic cell line HuT-14, a progenitor of HuT-14T, has the same codon-244 mutation and the insertion sequence but not the other two mutations. A nontumorigenic cell line that is related to HuT-14 but that has no beta-actin mutations does carry the intron-length polymorphism. We conclude that the mutation at codon 244 occurred first in a beta-actin allele already bearing the 22-base-pair intron insert and that mutations at codons 36 and 83 arose subsequently during the selection for the HuT-14T phenotype. Rat-2 cells synthesize the appropriate charge-variant species of mutant actin protein when transfected with either the singly or the triply mutated beta-actin gene. 相似文献
9.
目的:研究L-门冬酰胺酶(L-Asparaginase,L-A)前体脂质体(Proliposome,PL)[L-APL]iv对小鼠的毒性及对荷瘤小鼠的抗肿瘤活性。方法:以小鼠的急性毒性和外周血中白细胞数及血小板数为指标观察药物对小鼠的毒性及以荷瘤小鼠的瘤重和生命延和工率观察药物的抗肿瘤活性;结果:L-APL iV对小鼠的急性毒性与L-A相比明显降低,L-APL对正常小鼠外周血中白细胞数,血小板数无明显影响,而相同剂量L-A对小鼠外周血中白细胞数,血小板数明显降低。与对照组相比,L-APL和L-Aip可明显延长腹水型小鼠移瘤L1210,P388的存活天数,与同剂量L-A相比,L-APL高剂量有明显延长腹水型小鼠移植瘤的存活天数作用。L-APL及L-A ip对小鼠移植瘤Heps,EC实体型的肿瘤生长具有明显的抑制作用,两者抑瘤作用相近。结论:L-APL对小鼠的毒性明显小于相同剂量的L-A,L-APL不仅保持了L-A的抗肿瘤活性,而且有明显的增效作用。 相似文献
10.
Constantinos Anagnostopoulos Mark G. Gunning Dudley J. Pennell Robin Laney Haralambos Proukakis S. Richard Underwood 《European journal of nuclear medicine and molecular imaging》1996,23(8):909-916
We have validated ECG-gated emission tomography using technetium-99m methoxyisobutylisonitrile for the assessment of regional ventricular function by comparing it with cine magnetic resonance imaging (MRI). Gated tomography was performed at rest in 24 patients referred for myocardial perfusion imaging [17 males and seven females with a mean age of 58 years, nine of whom had had a previous myocardial infarction (MI)]. Scores were assigned to each of nine myocardial segments for wall motion and for thickening. Cine MRI was analysed in an identical fashion. Four out of 216 (2%) segments were uninterpretable by gated tomography because of inadequate tracer uptake. In eight patients without coronary artery disease (CAD), wall motion and thickening were normal by both methods. Gated tomography showed abnormal wall motion or thickening in all patients with previous MI and in five of seven patients with CAD but no prior MI. Association between wall motion and thickening was good (r
s=0.86). Overall, there was good agreement between gated tomography and MRI for both wall motion (178/212 segments, =0.66) and wall thickening (184/212 segments, =0.69). In segments with severely reduced perfusion, however, there was poorer agreement (=0.31). Interobserver and intraobserver agreement was high ( from 0.61 to 0.78). Thus, in patients investigated for CAD, there is good overall agreement between gated tomography and MRI but the agreement is lower in segments with severe perfusion defects. 相似文献