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排序方式: 共有1555条查询结果,搜索用时 15 毫秒
31.
Heron SE Crossland KM Andermann E Phillips HA Hall AJ Bleasel A Shevell M Mercho S Seni MH Guiot MC Mulley JC Berkovic SF Scheffer IE 《Lancet》2002,360(9336):851-852
Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified. Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A. This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis. 相似文献
32.
We report a case of serum-sickness-like illness in a 47-year-old patient who received early high-dose intravenous and intracoronary streptokinase following acute myocardial infarction. The picture comprised severe arthralgias, fever, an urticarial rash and marked elevation of circulating immune complexes. This case represents a rare complication of streptokinase therapy. 相似文献
33.
Toonen EJ Barrera P Radstake TR van Riel PL Scheffer H Franke B Coenen MJ 《Annals of the rheumatic diseases》2008,67(12):1663-1669
Over the last years microarray technologies have generated new perspectives for the high-throughput analysis of biological systems. Nowadays, it is possible to monitor thousands of genes in a single experiment. This molecular profiling technology combined with standardised and validated clinical measurements can allow a more precise characterisation of a patient's phenotype, and may lead to the design of therapeutic protocols and procedures better tailored to an individual patient's needs. In this report we provide an overview of expression profiling studies in rheumatoid arthritis (RA). RA is a chronic inflammatory disease in which both genetic and environmental factors are involved. The precise molecular mechanisms underlying RA are not fully understood. A systematic literature search revealed nine array-based expression profiling studies in patients with RA. Findings from these studies were compared with those of linkage and genome-wide association (GWA) studies. Although we observed many differences in study design, analysis and interpretation of results between the different studies, we extracted two sets of genes: (1) those differentially expressed in more than one study, and (2) genes differentially expressed in at least one of the reviewed studies and present in RA linkage or GWA loci. We suggest that both sets of genes include interesting candidate genes for further study in RA. 相似文献
34.
Marka van Blitterswijk Michael A. van Es Dagmar Verbaan Jacobus J. van Hilten Hans Scheffer Bart P. van de Warrenburg Jan H. Veldink Leonard H. van den Berg 《Neurobiology of aging》2013,34(5):1517.e1-1517.e3
Mutations in TAR DNA-binding protein (TARDBP) are associated with heterogenic phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and Parkinson's disease. In this study, we investigated the presence of TARDBP mutations in a cohort of 429 Dutch patients with Parkinson's disease. Though we detected 1 silent mutation, p.S332S, no missense mutations were present in our cohort. Our findings, therefore, demonstrate that TARDBP mutations do not appear to contribute to the pathogenesis of Parkinson's disease in The Netherlands. 相似文献
35.
Amy L. Schneider Candace T. Myers Alison M. Muir Sophie Calvert Alice Basinger M. Scott Perry Lance Rodan Katherine L. Helbig Chelsea Chambers Kathleen M. Gorman Mary D. King Sandra Donkervoort Ariane Soldatos Carsten G. Bnnemann Nino Spataro Elisabeth Gabau Montserrat Arellano Gerarda Cappuccio Nicola Brunetti‐Pierri Elsa Rossignol Fadi F. Hamdan Jacques L. Michaud Christopher Balak Heather C. Mefford Ingrid E. Scheffer 《Epilepsia》2021,62(1):e13-e21
Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41‐q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41‐q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41‐q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and analyze all 10 known cases to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features, albeit different to those typically seen in 1q41‐q42 deletion syndrome and WDR26 encephalopathy. We distinguish FBXO28 encephalopathy from both of these disorders with more severe intellectual impairment, drug‐resistant epilepsy, and hyperkinetic movement disorders. 相似文献
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37.
Kornelia Neveling Ilse Feenstra Christian Gilissen Lies H. Hoefsloot Erik‐Jan Kamsteeg Arjen R. Mensenkamp Richard J. T. Rodenburg Helger G. Yntema Liesbeth Spruijt Sascha Vermeer Tuula Rinne Koen L. van Gassen Danielle Bodmer Dorien Lugtenberg Rick de Reuver Wendy Buijsman Ronny C. Derks Nienke Wieskamp Bert van den Heuvel Marjolijn J.L. Ligtenberg Hannie Kremer David A. Koolen Bart P.C. van de Warrenburg Frans P.M. Cremers Carlo L.M. Marcelis Jan A.M. Smeitink Saskia B. Wortmann Wendy A.G. van Zelst‐Stams Joris A. Veltman Han G. Brunner Hans Scheffer Marcel R. Nelen 《Human mutation》2013,34(12):1721-1726
The advent of massive parallel sequencing is rapidly changing the strategies employed for the genetic diagnosis and research of rare diseases that involve a large number of genes. So far it is not clear whether these approaches perform significantly better than conventional single gene testing as requested by clinicians. The current yield of this traditional diagnostic approach depends on a complex of factors that include gene‐specific phenotype traits, and the relative frequency of the involvement of specific genes. To gauge the impact of the paradigm shift that is occurring in molecular diagnostics, we assessed traditional Sanger‐based sequencing (in 2011) and exome sequencing followed by targeted bioinformatics analysis (in 2012) for five different conditions that are highly heterogeneous, and for which our center provides molecular diagnosis. We find that exome sequencing has a much higher diagnostic yield than Sanger sequencing for deafness, blindness, mitochondrial disease, and movement disorders. For microsatellite‐stable colorectal cancer, this was low under both strategies. Even if all genes that could have been ordered by physicians had been tested, the larger number of genes captured by the exome would still have led to a clearly superior diagnostic yield at a fraction of the cost. 相似文献
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40.
BACKGROUND: Coronary sinus (CS) lead placement for transvenous left ventricular (LV) pacing in cardiac resynchronization therapy (CRT) has a failure rate at implant and short-term follow-up between 10% and 15%. OBJECTIVE: The purpose of this study was to assess the feasibility of transseptal endocardial LV pacing in patients in whom transvenous CS lead placement had failed. METHODS: An atrial transseptal LV lead placement was attempted in 10 patients (six females, age 69.4 +/- 9.6 years), in whom CS lead placement for CRT had failed. After transseptal puncture and septal dilatation from the femoral route, the left atrium was cannulated with a combination of catheters and guide wires from the left or right subclavian vein. After advancement of this guide catheter into the LV, a standard bipolar screw-in lead could be implanted in the posterolateral wall. All patients were maintained on anticoagulant therapy with warfarin after implant. RESULTS: An LV lead could be successfully implanted in nine of the 10 patients. The stimulation threshold was 0.78 +/- 0.24 V, and the R-wave amplitude was 14.2 +/- 9.7 mV. At 2 months' follow-up, the stimulation threshold was 1.48 +/- 0.35 V with a 0.064 +/- 0.027 ms pulse width. There was no phrenic nerve stimulation observed in any of the patients. There were no thromboembolic complications at follow-up. CONCLUSIONS: LV transseptal endocardial lead implantation from the pectoral area is a feasible approach in patients with a failed CS approach and in whom epicardial surgical lead placement is not an option. Longer follow-up is warranted to determine the risk of thromboembolic complications. 相似文献