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排序方式: 共有974条查询结果,搜索用时 46 毫秒
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Enza-Maria Valente Anjum Misbahuddin Francesco Brancati Mark R Placzek Barbara Garavaglia Sergio Salvi Andrea Nemeth Charles Shaw-Smith Nardo Nardocci Anna-Rita Bentivoglio Alfredo Berardelli Roberto Eleopra Bruno Dallapiccola Thomas T Warner 《Movement disorders》2003,18(9):1047-1051
The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases. 相似文献
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YopM of Yersinia pestis has previously been shown to be necessary for full virulence in mice and to be able to bind human alpha-thrombin. This activity prompted the hypothesis that YopM, functioning extracellularly during plague, might be accessible to neutralization by antibody and hence might be a protective antigen. This study tested this hypothesis and found that YopM was not protective, either by passive or active immunization, in inbred or outbred mice. These findings showed that either YopM-specific antibody does not have access to YopM during experimental plague or the function of extracellular YopM is not neutralizable by antibody. Exogenously supplied YopM partially restored virulence to a YopM- strain of Y. pestis while having no effect on lethality of Listeria monocytogenes. These findings indicate that YopM does not significantly alter host defenses important for resistance against heterologous infection (Listeria monocytogenes) but raise the possibility that YopM has a minor extracellular function specific to homologous infection (Y. pestis). 相似文献
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A 61-year-old man presented with a mass in the right upper quadrant of the abdomen. Computer tomography scanning (CT) had initially suggested that the location was in the head of the pancreas. Further examination with ultrasonography and celiac angiography documented that the mass was an aneurysm of the common hepatic artery. The successful approach to its surgical management is described. 相似文献
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P M Nemeth B J Norris O H Lowry D A Gordon R M Enoka D G Stuart 《The Journal of neuroscience》1988,8(11):3959-3966
Motor units of the cat tibialis posterior muscle were selectively activated by prolonged electrical stimulation of functionally isolated motor axons in situ. During the activation, the glucose analog 2-deoxyglucose (DG) was administered systemically. Single muscle fibers were subsequently examined for accumulation of the metabolite 2-deoxyglucose-6-phosphate (DG6P) by an analytical assay and for depletion of glycogen by a PAS glycogen-specific staining reaction (periodic acid Schiff; PAS). In general, levels of DG6P were 20 times greater in unstained (PAS-negative) fibers compared with stained (PAS-positive) fibers. However, some glycogen-depleted fibers, particularly in putative ischemic fascicles of the muscle, did not have elevated DG6P, suggesting that depletion of glycogen is not always a reliable indicator of fiber activation. Furthermore, the PAS-staining reaction was not necessarily indicative of quantitative glycogen levels in single fibers. Thus, this report shows that DG6P accumulation enhances the identification of motor-unit fibers selectively activated via their common motor-nerve axon. Evidence is also presented for differential glucose uptake in muscle fibers of different phenotype, thereby indicating that the DG6P measurement in muscle has broad applicability to the investigation of cellular glucose utilization. 相似文献
8.
Peter M Miller Ruth Stockdell Lynne Nemeth Chris Feifer Ruth G Jenkins Paul J Nietert Andrea Wessell Heather Liszka Steven Ornstein 《Substance Abuse》2006,27(1-2):61-70
Many medical conditions are caused or exacerbated by heavy drinking, necessitating alcohol screening and discussion in primary care practices. This is particularly true of hypertension, the most common primary diagnosis in the United States, which has been linked to the regular consumption of 3 or more standard alcoholic beverages a day. The Accelerating Alcohol Screening-Translating Research into Practice (AA-TRIP) project was designed to improve detection and management of alcohol problems in primary care patients with hypertension. Medical providers are being trained using the Practice Partner Research Network's- Translating Research into Practice (PPRNet-TRIP) quality improvement model. This includes a multi-method intervention (electronic medical records, on-site academic detailing, practice feedback reports and annual network meetings) to help practices increase adherence to clinical guidelines. Qualitative analyses of initial steps taken by nine primary care practices toward the routine implementation of alcohol screening guidelines are presented. Organizational factors and provider and patient characteristics all influenced the method and consistency of alcohol screening and intervention. Perceived time constraints, patient sensitivity to questions about alcohol, and possible stigma associated with a diagnosis of alcoholism were also relevant barriers requiring problem solving. 相似文献
9.
Steenbergen EJ; Verhagen OJ; van Leeuwen EF; van den Berg H; von dem Borne AE; van der Schoot CE 《Blood》1995,86(2):692-702
Crosslineage T-cell receptor delta (TCR delta) rearrangements are widely used as tumor markers for the follow up of minimal residual disease in childhood B-precursor acute lymphoblastic leukemia (ALL) by polymerase chain reaction (PCR). The major drawback of this approach is the risk of false-negative results due to clonal evolution. We investigated the stability of V delta 2D delta 3 rearrangements in a group of 56 childhood B-precursor ALL patients by PCR and Southern blot analysis. At the PCR level, V delta 2D delta 3-to-J alpha rearranged subclones (one pathway for secondary TCR delta recombination) were demonstrated in 85.2% of V delta 2D delta 3-positive patients tested, which showed that small subclones are present in the large majority of patients despite apparently monoclonal TCR delta Southern blot patterns. Sequence analysis of V delta 2D delta 3J alpha rearrangements showed a biased J alpha gene usage, with HAPO5 and J alpha F in 26 of 32 and 6 of 32 clones, respectively. Comparison of V delta 2D delta 3 rearrangement status between diagnosis and first relapse showed differences in seven of eight patients studied. In contrast, from first relapse onward, no clonal changes were observed in six patients studied. To investigate the occurrence of crosslineage TCR delta rearrangements in normal B and T cells, fluorescence-activated cell sorter-sorted peripheral blood CD19+/CD3- and CD19-/CD3+ cell populations from three healthy donors were analyzed. V delta 2D delta 3 rearrangements were detected at low frequencies in both B and T cells, which suggests that V delta 2-to-D delta 3 joining also occurs during normal B-cell differentiation. A model for crosslineage TCR delta rearrangements in B-precursor ALL is deduced that explains the observed clonal changes between diagnosis and relapse and is compatible with multistep leukemogenesis of B-precursor ALL. 相似文献
10.
Judith Nemeth Annie Galian Jacqueline Mikol Béatrix Cochand-Priollet Michel Wassef Anne Lavergne 《Virchows Archiv : an international journal of pathology》1987,412(1):89-93
Summary The immunoreactivity of polyclonal antiserum to neuron-specific enolase (NSE) has been investigated. Twenty-three cases of malignant lymphoma (ML) were studied and compared with previously published reports. In our study 11 out of 23 cases showed strong or weak NSE positivity; any type of ML could be positive or negative even among B or T cell ML. This study indicated that polyclonal NSE is not a specific marker; it might be an inconstant marker of ML with no apparent correlation between reactivity and morphology or phenotype. 相似文献