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601.
602.

Introduction

Classification of variants of unknown significance (VUS) in the breast cancer genes BRCA1 and BRCA2 changes with accumulating evidence for clinical relevance. In most cases down-staging towards neutral variants without clinical significance is possible.

Methods

We searched the database of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for changes in classification of genetic variants as an update to our earlier publication on genetic variants in the Centre of Dresden. Changes between 2015 and 2017 were recorded.

Results

In the group of variants of unclassified significance (VUS, Class 3, uncertain), only changes of classification towards neutral genetic variants were noted. In BRCA1, 25% of the Class 3 variants (n = 2/8) changed to Class 2 (likely benign) and Class 1 (benign). In BRCA2, in 50% of the Class 3 variants (n = 16/32), a change to Class 2 (n = 10/16) or Class 1 (n = 6/16) was observed. No change in classification was noted in Class 4 (likely pathogenic) and Class 5 (pathogenic) genetic variants in both genes. No up-staging from Class 1, Class 2 or Class 3 to more clinical significance was observed.

Conclusion

All variants with a change in classification in our cohort were down-staged towards no clinical significance by a panel of experts of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). Prevention in families with Class 3 variants should be based on pedigree based risks and should not be guided by the presence of a VUS.
  相似文献   
603.
Objective: Polyhydramnios can lead to maternal and fetal complication during pregnancy, so diagnosis and management can decrease some perinatal complications.

Study design: One hundred and fourteen singleton pregnancies were diagnosed with idiopathic polyhydramnios in the department of obstetrics at Shiraz University of Medical Sciences between January 2000 and January 2011 and were compared with 114 normal pregnancies for their perinatal outcome. Variables include birth weight, admission to neonatal intensive care unit (NICU), meconium staining, respiratory distress, fetal death, neonatal death, low 1-min and 5-min APGAR score, primary cesarean section (C/S), preterm delivery (<37?weeks), postpartum bleeding, and placental abruption.

Results: Low birth weight (<2500?g), macrosoma (>4000?g), NICU admission, fetal distress, fetal death, lower 1-min and 5-min APGAR score, preterm delivery, and neonatal death were higher in the case group. However, meconium staining and malpresentation were equal between the two groups. Except for prematurity and 1-min and 5-min APGAR scores, there were no significant differences in other maternal or fetal outcomes considering the severity of polyhydramnios.

Conclusion: Idiopathic polyhydramnios should be considered as a high-risk pregnancy that warrants close surveillance. More studies should be done to detect the best time and interval of fetal surveillance in these patients. Chromosomal and torch studies can determine the definite cause of polyhydramnios.  相似文献   
604.
Steroid hormones, such as estrone (E1), 17β-estradiol (E2), 17β-ethinylestradiol (EE2) and estriol (E3) are a group of lipophilic active substances, synthesized biologically from cholesterol or chemically. A pH-switchable hydrophobic deep eutectic solvent-based liquid phase microextraction (DES-LPME) technique was established and combined with gas chromatography-mass spectroscopy for the determination of estrogenic compounds in environmental water and wastewater samples. A DES was synthesized using l-menthol as HBA and (1S)-(+)-camphor-10-sulfonic acid (CSA) as HBD, and used as a green extraction solvent. By adjusting the pH of the solution, the unique behavior of the DES in the phase transition and extraction of the desired analytes was investigated. The homogenization process of the mixture is done only by manual shaking in less than 30 seconds and the phase separation is done only by changing the pH and without centrifugation. Some effective parameters on the extraction and derivatization, such as molar ratio of DES components, DES volume, KOH concentration, HCl volume, salt addition, extraction and derivatization time and derivatization prior or after extraction were studied and optimized. Under the optimum conditions, relative standard deviation (RSD) values for intra-day and inter-day of the method based on 7 replicate measurements of 20 ng L−1 of estrogenic compounds and 10 ng L−1 for internal standard in different samples were in the range of 2.2–4.6% and 3.9–5.7%, respectively. The calibration graphs were linear in the range of 0.5–100 ng L−1 and the limits of detection (LODs) were in the range of 0.2–1.0 ng L−1. The relative recoveries of environmental water and wastewater samples which have been spiked with different levels of target compounds were 91.0–108.8%.

A pH-switchable hydrophobic deep eutectic solvent-based liquid phase microextraction (DES-LPME) technique was established and combined with gas chromatography–mass spectroscopy for the determination of estrogenic compounds in environmental samples.  相似文献   
605.
A series of 12 novel polyethylene-glycol(PEG)-alkynyl C2-adenosine(ADN) conjugates were synthesized using a robust Sonogashira coupling protocol and characterized by NMR spectroscopy and mass spectrometry analysis. The ADN-PEG conjugates showed null to moderate toxicity in murine macrophages and 12c was active against Mycobacterium aurum growth (MIC = 62.5 mg/L). The conjugates were not active against Mycobacterium bovis BCG. Conjugates 10b and 11b exhibited high water solubility with solubility values of 1.22 and 1.18 mg/ml, respectively, in phosphate buffer solutions at pH 6.8. Further, 10b and 11b induced a significant increase in cAMP accumulation in RAW264.7 cells comparable with that induced by adenosine. Analogues 10c , 11c and 12c were docked to the A1, A2A, A2B and A3 adenosine receptors (ARs) using crystal-structures and homology models. ADN-PEG-conjugates bearing chains with up to five ethyleneoxy units could be well accommodated within the binding sites of A1, A2A and A3 ARs. Docking studies showed that compound 10b and 11b were the best A2A receptor binders of the series, whereas 12c was the best binder for A1 AR. In summary, introduction of hydrophilic PEG substituents at the C2 of adenine ring significantly improved water solubility and did not affect AR binding properties of the ADN-PEG conjugates.  相似文献   
606.
Various conditions, including infections, can cause telogen effluvium (TE). One of them is coronavirus disease 2019 (COVID‐19), where hair loss usually begins between 2 and 12 weeks after the illness. TE can be acute or chronic, and the chronic type can be intermittent. Here, we present the case of a 17‐year‐old girl with severe and widespread hair loss following an upper respiratory infection suspected to be COVID‐19, with the patient having a history of such attacks since childhood. Evidence from biopsy and dermoscopy indicated a diagnosis of TE.  相似文献   
607.

Background

Pediculosis capitis, also known as head lice, is a common problem that affects individuals of different socio-economic backgrounds. Permethrin is generally considered the first-line treatment option for head lice.

Aims

The objective of this study was to evaluate and compare the therapeutic effects of three different methods of permethrin treatment for head lice.

Method

A parallel, randomized clinical trial was conducted on 157 patients with head lice. The participants underwent eye examination and dry combing by a trained professional. The subjects were randomly divided into three groups and treated with one of the three methods of permethrin application: permethrin shampoo for 10 min, permethrin shampoo for 1 h, or permethrin cream for 10 min on a weekly basis for 3 weeks.

Results

Of the 157 participants, 154 completed the study. The group treated with permethrin shampoo for 1 h had the shortest average time for eradication of lice at 1.226 ± 0.422 weeks, which was significantly lower than the other two groups. Additionally, the 1-h permethrin shampoo group had the lowest time for scalp itching of 2.15 ± 0.632 weeks, which was significantly lower than the other two groups. Moreover, the rate of lice eradication in the first week was significantly higher in the 1-h permethrin shampoo group.

Conclusion

The results of this study suggest that the use of 1% permethrin shampoo for 1 h is more effective in eradicating head lice within the first week of treatment and in relieving scalp itching during the second week.  相似文献   
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