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51.
H4 acetylation, XIST RNA and replication timing are coincident and define x;autosome boundaries in two abnormal X chromosomes 总被引:2,自引:1,他引:2
The inactive X (Xi) differs from its active homologue (Xa) in a number of
ways, including increased methylation of CpG islands, replication late in S
phase, underacetylation of histone H4 and association with XIST RNA. Global
changes in DNA methylation occur relatively late in development, but the
other properties all change during or shortly after the establishment of Xi
and may play a role in the mechanism by which an inactive chromatin
conformation spreads across most of the chromosome. In the present report,
we use two human X;autosome translocation chromosomes to study the
spreading of inactive X chromatin across X;autosome boundaries. In one of
these chromosomes, t(X;6), Xp distal to p11.2 is replaced by 6p21.1-6pter
and, in the other, ins(X;16), a small fragment derived from 16p13 is
inserted into the distal third of Xq. In lymphoid cells from patients
carrying these translocations in an unbalanced form, Xi was shown by HUMARA
assay to be derived exclusively [t(X:6)] or predominantly [ins (X;16)] from
the derived X chromosome. We used a combination of immunolabelling and
RNA/DNA fluorescence in situ hybridization to define the distribution of
XIST RNA, deacetylated H4 and late-replicating DNA across the two derived X
chromosomes in inactive form. Within the limits of the cytogenetic
techniques employed, the results show complete coincidence of these three
parameters, with all three being excluded from the autosomal component of
the derived X chromosome.
相似文献
52.
Janneke AL van Kempen Henk J Schers Anne Jacobs Sytse U Zuidema Franca Ruikes Sarah HM Robben René JF Melis Marcel GM Olde Rikkert 《The British journal of general practice》2013,63(608):e225-e231
Background
Primary care is increasingly interested in the identification of frailty, as it selects the target population for integrated care. However, instruments for the identification of frailty specifically validated for use in primary care are scarce. This study developed the Easycare Two-step Older persons Screening (Easycare-TOS), which provides a valid, efficient, and pragmatic screening procedure to identify frail older people.Aim
This paper aims to describe the development of the Easycare-TOS and the data from the pilot studies.Design and setting
Observational pilot study in seven academic GP practices in and around Nijmegen, The Netherlands.Method
The Easycare-TOS was developed in a cyclic process with the input of stakeholders. In every cycle, the requirements were first defined, then translated into a prototype that was tested in a pilot study. The Easycare-TOS makes optimal use of prior knowledge of the GP, and the professionals’ appraisal is decisive in the frailty decision, instead of a cut-off score. Further, it considers aspects of frailty, as well as aspects of the care context of the patient.Results
The pilot data have shown that after step 1, two-thirds of the patients do not need further assessment, because they are judged as not frail, based on prior knowledge of the GP. The overall prevalence of frailty in this pilot study is 24%. Most professionals who participated in the pilot studies considered the time investment acceptable and the method to be of added value.Conclusion
The Easycare-TOS instrument meets the predefined efficiency, flexibility, and acceptability requirements for use as an identification instrument for frailty in primary care. 相似文献53.
NA Hanchard DR Murdock PL Magoulas M Bainbridge D Muzny YQ Wu M Wang AL McGuire JR Lupski RA Gibbs CW Brown 《Clinical genetics》2013,83(5):457-461
The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future. 相似文献
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The extent of length polymorphisms of the heterochromatic and euchromatic segment of the human Y chromosome were investigated in 15 boys with acute leukemia and were compared with 15 normal controls. A greater value of the Yh/F index in relation to controls was established (P < 0.05). The length of the euchromatic segment was also shorter in the patients than the controls (P < 0.05). 相似文献
57.
C. COSTALOS G. RUSSELL Q. AL RAHIM M. J. TARLOW D. J. LLOYD K. R. ROSS 《Acta paediatrica (Oslo, Norway : 1992)》1985,74(3):382-385
ABSTRACT. Serial plasma glucose estimations were performed in 44 light-for-date infants and 17 infants of diabetic mothers fed 2, 3 or 4-hourly with feeds containing 10 % additional carbohydrate in the form of a glucose polymer (Caloreen). In the infants fed 2 and 3-hourly, plasma glucose was higher following the high carbohydrate feeds, particularly immediately before the next feed was due. Given 4-hourly, the high carbohydrate feed had little effect in most light-for-date infants, and in one light-for-date infant and two infants of diabetic mothers the plasma glucose was lower at the end of 4 hours than following normal formula. It is concluded that the addition of glucose polymer to feeds given 2 and 3 hourly has a potentially useful effect in neonates at risk of developing hypoglycaemia, but it cannot be used to increase the feed interval to 4 hours. 相似文献
58.
A series of 73 hypopharyngeal (Zenker's) diverticula is reported and the choice of treatment and technique of excision are discussed. The problems of excision include operation on an infected site with limited access but few patients are unfit for the procedure. Preoperatively the sac should be packed and the oesophagus stented. The side of approach is unimportant as the condition is essentially midline. Cricopharyngeal myotomy appears to reduce the recurrence rate, possibly by improving coordination of pharyngeal contraction and upper oesophageal relaxation. The use of electrocoagulation is not recommended as 20% of patients require repeated general anaesthesia and the procedure fails in 13%. For all but the smallest pouches, excision is the treatment of choice. 相似文献
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We present a case of aneurysm of interatrial septum associated with rheumatic mitral stenosis, which supports the theory that claims that the pressure gradient between the atriums plays an important part in its aetiology. The angiographic image of a filling defect in the right atrium may cause an erroneous diagnosis of atrial tumour. The levophase of right angiography and cross-sectional echocardiography confirmed the diagnosis of aneurysm of interatrial septum. 相似文献