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91.
M. Louise Markert Bruce D. Finkel Tanya M. McLaughlin TJ Watson Harold R. Collard Connette P. McMahon Lucy G. Andrews Michael J. Barrett Frances E. Ward 《Human mutation》1997,9(2):118-121
Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations including two amino acid substitutions, A 174P and G190V, a single codon deletion, ΔI129, and a point mutation in intron 3 which leads to aberrant splicing and creation of a premature stop codon in exon 4 (286 -18G→A). Of the previously reported mutations, E89K was found in one additional patient, and R234P was found in 3 unrelated patients, making R234P the most common mutation reported to date in this disease. Hum Mutat 9:118–121, 1997. © 1997 Wiley-Liss, Inc. 相似文献
92.
D Siassakos JF Crofts C Winter CP Weiner TJ Draycott 《BJOG : an international journal of obstetrics and gynaecology》2009,116(8):1028-1032
Confidential enquiries into poor perinatal outcomes have identified deficiencies in team working as a common factor and have recommended team training in the management of obstetric emergencies. Isolated aviation-based team training programmes have not been associated with improved perinatal outcomes when applied to labour ward settings, whereas obstetric-specific training interventions with integrated teamwork have been associated with clinical improvements. This commentary reviews obstetric emergency training programmes from hospitals that have demonstrated improved outcomes to determine the active components of effective training. The common features identified were: institution-level incentives to train; multi-professional training of all staff in their units; teamwork training integrated with clinical teaching and use of high fidelity simulation models. Local training also appeared to facilitate self-directed infrastructural change. 相似文献
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95.
T Schlinzig S Johansson A Gunnar TJ Ekström M Norman 《Acta paediatrica (Oslo, Norway : 1992)》2009,98(7):1096-1099
Aim: Delivery by C-section (CS) has been associated with increased risk for allergy, diabetes and leukaemia. Whereas the underlying cause is unknown, epigenetic change of the genome has been suggested as a candidate molecular mechanism for perinatal contributions to later disease risk. We hypothesized that mode of delivery affects epigenetic activity in newborn infants.
Methods: A total of 37 newborn infants were included. Spontaneous vaginal delivery (VD) occurred in 21, and 16 infants were delivered by elective CS. Blood was sampled from the umbilical cord and 3–5 days after birth. DNA-methylation was analyzed in leucocytes.
Results: Infants born by CS exhibited higher DNA-methylation in leucocytes compared with that of those born by VD (p < 0.001). After VD, newborn infants exhibited stable levels of DNA-methylation, as evidenced by comparing cord blood values with those 3–5 days after birth (p = 0.55). On postnatal days 3–5, DNA-methylation had decreased in the CS group (p = 0.01) and was no longer significantly different from that of VD (p = 0.10).
Conclusion: DNA-methylation is higher in infants delivered by CS than in infants vaginally born. Although currently unknown how gene expression is affected, or whether epigenetic differences related to mode of delivery are long-lasting, our findings open a new area of clinical research with potentially important public health implications. 相似文献
Methods: A total of 37 newborn infants were included. Spontaneous vaginal delivery (VD) occurred in 21, and 16 infants were delivered by elective CS. Blood was sampled from the umbilical cord and 3–5 days after birth. DNA-methylation was analyzed in leucocytes.
Results: Infants born by CS exhibited higher DNA-methylation in leucocytes compared with that of those born by VD (p < 0.001). After VD, newborn infants exhibited stable levels of DNA-methylation, as evidenced by comparing cord blood values with those 3–5 days after birth (p = 0.55). On postnatal days 3–5, DNA-methylation had decreased in the CS group (p = 0.01) and was no longer significantly different from that of VD (p = 0.10).
Conclusion: DNA-methylation is higher in infants delivered by CS than in infants vaginally born. Although currently unknown how gene expression is affected, or whether epigenetic differences related to mode of delivery are long-lasting, our findings open a new area of clinical research with potentially important public health implications. 相似文献
96.
CT- and US-guided biopsy of the pancreas 总被引:15,自引:0,他引:15
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A report of three cases of craniosynostosis in X-linked hypophosphataemic rickets (XLH) is presented. The literature is reviewed, suggesting that craniosynostosis is relatively common in XLH and that boys may be more at risk than girls. It is recommended that radiological screening be offered to all patients with XLH. 相似文献
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100.
Cervical radiculopathy: prospective evaluation with surface coil MR imaging, CT with metrizamide, and metrizamide myelography 总被引:3,自引:0,他引:3
A prospective study was undertaken to compare the accuracy of surface coil magnetic resonance (SCMR) imaging, metrizamide myelography (MM), and computed tomography with metrizamide (CTM) in the determination of cervical radiculopathy. Surgical findings were the objective measure of accuracy. Fifty-two patients underwent all imaging studies. Studies were evaluated for disease location and type (bone vs. soft tissue). Twenty-eight patients underwent subsequent cervical surgery at 39 levels form an anterior interbody approach. Predictions made with SCMR imaging were surgically confirmed in 74% of patients, with CTM in 85%, and with MM in 67%. There was 90% agreement with surgical findings when SCMR imaging and CTM were used jointly, and 92% agreement when CTM and MM were used jointly, In general, SCMR imaging was as sensitive as CTM for identification of disease level, but not as specific for type of disease. MM was the modality least specific for disease type. The major advantage of CTM was its ability to distinguish bone from soft tissue, for which contrast material is unnecessary. SCMR imaging is a viable alternative to MM and, together with computed tomography, if needed, provides a thorough examination of the cervical region. 相似文献