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31.
High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes 总被引:5,自引:0,他引:5
Shuber AP; Michalowsky LA; Nass GS; Skoletsky J; Hire LM; Kotsopoulos SK; Phipps MF; Barberio DM; Klinger KW 《Human molecular genetics》1997,6(3):337-347
As more mutations are identified in genes of known sequence, there is a
crucial need in the areas of medical genetics and genome analysis for
rapid, accurate and cost-effective methods of mutation detection. We have
developed a multiplex allele-specific diagnostic assay (MASDA) for analysis
of large numbers of samples (> 500) simultaneously for a large number of
known mutations (> 100) in a single assay. MASDA utilizes
oligonucleotide hybridization to interrogate DNA sequences. Multiplex DNA
samples are immobilized on a solid support and a single hybridization is
performed with a pool of allele-specific oligonucleotide (ASO) probes. Any
probes complementary to specific mutations present in a given sample are in
effect affinity purified from the pool by the target DNA. Sequence-specific
band patterns (fingerprints), generated by chemical or enzymatic sequencing
of the bound ASO(s), easily identify the specific mutation(s). Using this
design, in a single diagnostic assay, we tested samples for 66 cystic
fibrosis (CF) mutations, 14 beta-thalassemia mutations, two sickle cell
anemia (SCA) mutations, three Tay-Sachs mutations, eight Gaucher mutations,
four mutations in Canavan disease, four mutations in Fanconi anemia, and
five mutations in BRCA1. Each mutation was correctly identified. Finally,
in a blinded study of 106 of these mutations in > 500 patients, all
mutations were properly identified. There were no false positives or false
negatives. The MASDA assay is capable of detecting point mutations as well
as small insertion or deletion mutations. This technology is amenable to
automation and is suitable for immediate utilization for high-throughput
genetic diagnostics in clinical and research laboratories.
相似文献
32.
Dou Q; Tarnuzzer RW; Williams RS; Schultz GS; Chegini N 《Molecular human reproduction》1997,3(11):1005-1014
33.
Yu-Tao Xiang Yong-Zhen Weng Chi-Ming Leung Wai-Kwong Tang Gabor S. Ungvari 《Quality of life research》2008,17(1):27-36
Purpose This study compared the subjective quality of life (SQOL) in schizophrenia patients living with their families in Hong Kong
(HK) and Beijing (BJ) and explored the relationship between SQOL and basic socio-demographic and clinical factors.
Materials and methods Two hundred and sixty-four clinically stable outpatients with schizophrenia were randomly selected in HK and 258 counterparts
matched according to age, sex, age at onset, and length of illness in BJ. SQOL and psychiatric status were assessed with standard
rating instruments.
Results There was no significant difference in any of SQOL domains between the two cohorts after controlling for potentially confounding
variables. Positive, depressive and anxiety symptoms and drug-induced extrapyramidal side effects (EPS) were all significantly
correlated with SQOL. Multiple regression analysis revealed that only depressive symptoms predicted all SQOL domains in both
groups. Having removed depressive symptoms from the model, positive symptoms predicted all domains, anxiety predicted all
but social domains, use of benzodiazepines (BZD) predicted all but physical domains, EPS predicted physical domain, and history
of suicide predicted social domain in HK; anxiety predicted all domains, positive symptoms predicted all but physical domains,
EPS, use of BZD and history of suicide all predicted physical domains, and length of illness predicted environmental domain
in BJ.
Conclusion Despite considerable differences between the two sites in terms of health care delivery and the economic conditions of the
subjects, SQOL did not differ between HK and BJ. The conclusion is in line with previous studies that suggested that patients’
SQOL was independent of their living standard as long as it reached a certain minimum level. SQOL was more strongly related
to the severity of depressive symptoms and had weak association with socio-demographic factors. 相似文献
34.
Atlanto-axial rotatory fixation (AARF) is an uncommon condition which is often missed at presentation because of its rarity and the relative subtlety of plain film X-ray findings, but early detection and appropriate management are vital for a cure. We describe three cases in which the use of spiral computed tomography scanning with 3D and sagittal reconstructions greatly aided diagnosis and management. The 3D images gave a more graphic picture of the overall alignment of the upper cervical spine and the skull base, while the sagittal reconstructions demonstrated the presence or absence of compensatory atlanto-occipital subluxation. The literature is briefly reviewed. 相似文献
35.
36.
37.
GS Chopra PK Gupta AC Anand PP Varma V Nair Ramji Rai 《Medical Journal Armed Forces India》2005,61(3):234-237
Background
HBV DNA quantitation is used extensively world wide for the diagnosis and monitoring of treatment of Hepatitis B virus (HBV) infection. However, it has still to be popular in India. The aim of this study was to quantitate HBV – DNA by Real time – PCR method in Hepatitis B and in immuno-compromised patients, to compare the results with HBeAg detection and to monitor the response to therapy of chronic Hepatitis B patients to antivirals.Methods
Ninety one serum samples of Hepatitis group of patients (all HBsAg positive), 41 samples from immuno-compromised patients (all HBsAg negative) and 49 patients of Chronic Hepatitis B group (all HBsAg positive) were the subjects of this first ever study in Armed Forces. Twenty serum samples from healthy volunteers and non-hepatitis B patients served as negative controls. The amplification detection was carried out in a Rotor-Gene 2000-sequence detectorResults
Amongst Hepatitis B group, 33% (30/91) of the samples were positive for HBV-DNA and 26% (24/91) of samples were positive for HBeAg. In the immuno-compromised group of patients 14.6% (6/11) of samples were positive for HIV-DNA and 9.7% (4/41) were positive for HBeAg. Of the Chronic Hepatitis B patients on treatment, all (100%) were positive by HBV-DNA, whereas 29/49 (59.2%) were positive by HBeAg before treatment. After treatment with antivirals, 06/49 (12.2%) were positive by both tests and 11/49 (22.5%) were positive only by HBV-DNA. 32/49 (65.3%) patients became negative serologically after therapy.Conclusion
HBeAg status did not necessarily reflect HBV-DNA level in the serum, as 10/91 (11%) in the Hepatitis B group, 2/41 (4.9%) in the immuno compromised group and 20/49 (40.8%) patients in the Chronic Hepatitis B group were positive for HBV-DNA but negative for HBeAg. HBV-DNA was not found to be positive amongst any of the negative controls. Real time – PCR is a sensitive and reproducible assay for HBV-DNA quantitation and may be started in Armed Forces referral centers in the near future.Key Words: Real time – PCR, Chronic Hepatitis B, HBV – DNA, Antivirals 相似文献38.
KN?FountoulakisEmail author A?Iacovides S?Kleanthous S?Samolis K?Gougoulias I?Tsiptsios GS?Kaprinis P?Bech 《BMC psychiatry》2003,3(1):2
Background
The Major Depression Inventory (MDI) is a brief self-rating scale for the assessment of depression. It is reported to be valid because it is based on the universe of symptoms of DSM-IV and ICD-10 depression. The aim of the current preliminary study was to assess the reliability, validity and psychometric properties of the Greek translation of the MDI. 相似文献39.
Tang WK Chan SS Chiu HF Wong KS Kwok TC Mok V Ungvari GS 《International journal of geriatric psychiatry》2003,18(8):706-710
BACKGROUND: Little is known about the performance of the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE) in the screening of post-stroke dementia (PSDE). METHODS: At 3 months after the index stroke, a research assistant administered the IQCODE to relatives of 189 Chinese patients with acute stroke who were consecutively admitted to a general hospital. A psychiatrist, who was blind to the IQCODE scores, interviewed all 189 patients and made DSM-IV diagnosis of dementia, which served as the benchmark for judging the performance of IQCODE in screening PSDE. RESULTS: The optimal cut-off point of IQCODE was 3.40. The sensitivity, specificity, and positive and negative predictive values of IQCODE, and the area under the receiver operating characteristic curve, were 88%, 75%, 33%, 98%, and 0.88, respectively. CONCLUSIONS: When used as a sole instrument, IQCODE does not appear to be useful in screening PSDE in Chinese elderly. 相似文献
40.
Patient satisfaction is an important outcome measure independent of other outcomes. Its measurement is important to assess the effectiveness of a programme and to gain insight into the patients'' perception of the programme. In this study conducted in a large rehabilitation centre it was found that majority of patients express satisfaction with care inspite of perceived discomfort. Various demographic factors, severity or duration of the disability or the level of rehabilitation do not influence patient satisfaction. Patients express more concern with aspects such as delay in issue of the prosthesis, or hotel component of the hospital services. Patients did not appear too concerned about the level of information provided. Patient satisfaction is an individual reaction to the overall care process and is influenced by the initial expectation level of the patient. Emotional response of the patient appears to be more important determinant of patient satisfaction than the cognitive evaluation. Periodical assessment of patient satisfaction should be an important component of any programme evaluation exercise.KEY WORDS: Amputation, Patient satisfaction, Programme evaluation, Prosthesis, Quality of care, Rehabilitation 相似文献