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51.
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome 总被引:11,自引:3,他引:11
Picketts DJ; Higgs DR; Bachoo S; Blake DJ; Quarrell OW; Gibbons RJ 《Human molecular genetics》1996,5(12):1899-1907
It was shown recently that mutations of the ATRX gene give rise to a
severe, X-linked form of syndromal mental retardation associated with alpha
thalassaemia (ATR-X syndrome). In this study, we have characterised the
full-length cDNA and predicted structure of the ATRX protein. Comparative
analysis shows that it is an entirely new member of the SNF2 subgroup of a
superfamily of proteins with similar ATPase and helicase domains. ATRX
probably acts as a regulator of gene expression. Definition of its genomic
structure enabled us to identify four novel splicing defects by screening
52 affected individuals. Correlation between these and previously
identified mutations with variations in the ATR-X phenotype provides
insights into the pathophysiology of this disease and the normal role of
the ATRX protein in vivo.
相似文献
52.
Day DJ; Speiser PW; Schulze E; Bettendorf M; Fitness J; Barany F; White PC 《Human molecular genetics》1996,5(12):2039-2048
Steroid 21-hydroxylase deficiency is among the most common inborn errors of
metabolism in man. Characterization of mutations in the 21- hydroxylase
gene (CYP21) has permitted genetic diagnosis, facilitated by the polymerase
chain reaction (PCR). The most common mutation is conversion of an A or C
at nt656 to a G in the second intron causing aberrant splicing of mRNA.
Homozygosity for nt656G is associated with profoundly deficient adrenal
cortisol and aldosterone synthesis, secondary hypersecretion of adrenal
androgens, and a severe form of congenital adrenal hyperplasia (CAH)
characterized by ambiguous genitalia and/or sodium wasting in newborns.
During the course of genetic analysis of CYP21 mutations in CAH families,
we and others have noticed a number of relatives genotyped as nt656G
homozygotes, yet showing no clinical signs of disease. A number of lines of
evidence have led us to propose that the putative asymptomatic nt656G/G
individuals are incorrectly typed due to dropout of one haplotype during
PCR amplification of CYP21. For prenatal diagnosis, we recommend that
microsatellite typing be used as a supplement to CYP21 genotyping in order
to resolve ambiguities at nt656.
相似文献
53.
PTEN is inversely correlated with the cell survival factor Akt/PKB and is inactivated via multiple mechanismsin haematological malignancies 总被引:7,自引:1,他引:7
54.
R Bahl DJ Murphy B Strachan 《BJOG : an international journal of obstetrics and gynaecology》2009,116(2):319-326
Objectives The objectives of this study were to define the components of a skilled low-cavity non-rotational vacuum delivery (occiput anterior, vertex at station +2 or below and less than 45-degree rotation from midline) and to facilitate the transfer of skills from expert to trainee obstetricians.
Design Qualitative study using interviews and video recordings.
Setting Two university teaching hospitals (St Michael's Hospital, Bristol, and Ninewell's Hospital, Dundee).
Participants Ten obstetricians and eight midwives identified as experts in conducting or supporting operative vaginal deliveries.
Methods Semi-structured interviews were carried out using routine clinical scenarios. The experts were also video recorded conducting low-cavity vacuum deliveries in a simulation setting. The interviews and video recordings were transcribed verbatim and analysed using thematic coding. The anonymised data were independently coded by three researchers and compared for consistency of interpretation. The experts reviewed the coded interviews and video data for respondent validation and clarification. The themes that emerged following the final coding were used to formulate a list of skills.
Main outcome measures Key technical skills of a low-cavity non-rotational delivery.
Results The final list included detailed technical skills required for conducting a low-cavity vacuum delivery. The combination of semi-structured interviews and simulation videos allowed the formulation of a comprehensive skills tool for future evaluation.
Conclusion This explicitly defined skills list could aid trainees understanding of the technique of low-cavity vacuum delivery. This is an important first step in evaluating clinical competence in intrapartum procedures. 相似文献
Design Qualitative study using interviews and video recordings.
Setting Two university teaching hospitals (St Michael's Hospital, Bristol, and Ninewell's Hospital, Dundee).
Participants Ten obstetricians and eight midwives identified as experts in conducting or supporting operative vaginal deliveries.
Methods Semi-structured interviews were carried out using routine clinical scenarios. The experts were also video recorded conducting low-cavity vacuum deliveries in a simulation setting. The interviews and video recordings were transcribed verbatim and analysed using thematic coding. The anonymised data were independently coded by three researchers and compared for consistency of interpretation. The experts reviewed the coded interviews and video data for respondent validation and clarification. The themes that emerged following the final coding were used to formulate a list of skills.
Main outcome measures Key technical skills of a low-cavity non-rotational delivery.
Results The final list included detailed technical skills required for conducting a low-cavity vacuum delivery. The combination of semi-structured interviews and simulation videos allowed the formulation of a comprehensive skills tool for future evaluation.
Conclusion This explicitly defined skills list could aid trainees understanding of the technique of low-cavity vacuum delivery. This is an important first step in evaluating clinical competence in intrapartum procedures. 相似文献
55.
在一项随机、平行分组的开放试验中,27例妊娠糖尿病妇女(年龄30.7±6.3岁,HbA1c〈7%)随机分为门冬胰岛素治疗组(餐前5分钟注射)和常规人胰岛素治疗组(餐前30分钟注射)。试验时间为从诊断妊娠糖尿病(18~28周)至产后6周。研究期间两组的总体血糖水平均控制良好(试验开始和结束时HbA1c≤6%)。进餐试验时,试验6周时的平均血糖水平(门冬胰岛素组4.2±0.57mmol/L,常规人胰岛素组4.8±0.86mmol/L)略低于试验0周时(门冬胰岛素组4.9±0.59mmol/L,常规人胰岛素组5.1±0.36mmol/L)。 相似文献
56.
57.
WPF Fetter J van Hof-van Duin W Baerts DJ Heersema M Wildervanck de Blécourt-Devilée 《Acta paediatrica (Oslo, Norway : 1992)》1992,81(1):25-28
Visual development was studied in 10 very-low-birth-weight infants (less than 1500 g) with retinopathy of prematurity (ROP) stage 3+ who had been treated with cryocoagulation in both eyes. Binocular visual acuity (acuity cards method) and binocular visual fields (kinetic perimetry) were assessed repeatedly in the first year of life. At 12 months corrected age, visual acuity was normal in seven and impaired in three infants, who appeared to be severely myopic. Normal visual fields were found in eight infants at this age. The results indicate that cryotherapy in cases of ROP stage 3+ does not interfere with visual acuity development. The effect on visual field development needs further investigation. 相似文献
58.
59.
60.
The incidence of transient hypogammaglobulinaemia of infancy (THI) detected in a major paediatric centre over a 10 year period was examined. A total of 2468 subjects less than 2 years of age had an IgG measurement taken between July 1979 and March 1990. Subjects with known immunodeficiencies were excluded. Fifteen patients were classified as having THI with an initial IgG level less than the fifth centile followed by a second measurement within the normal range. A further 24 patients were identified as having possible THI with a single low IgG concentration. There were 60,174 live births each year in Victoria in the years 1979-88. This gives an incidence of proved THI of 23 per 10(6) births, and including proved and probable THI an incidence of 61 per 10(6) live births. Of those patients with proved THI 12/15 had symptoms of either atopic disease or food allergy/intolerance and three had gastrointestinal symptoms without any evidence of atopic disease. At presentation 12/15 (80%) were IgA deficient and 9/15 had IgM concentrations less than the 20th centile for age. It is suggested that in view of the preponderance of atopic and food intolerant patients that subclinical protein loss from the bowel due to allergic inflammation may be a contributing factor to the development of THI in some patients. 相似文献