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991.
Jessica L. de Beer Onno W. Akkerman Anita C. Schürch Arnout Mulder Tjip S. van der Werf Adri G. M. van der Zanden Jakko van Ingen Dick van Soolingen 《Journal of clinical microbiology》2014,52(5):1338-1342
Variable-number tandem-repeat (VNTR) typing with a panel of 24 loci is the current gold standard in the molecular typing of Mycobacterium tuberculosis complex isolates. However, because of technical problems, a part of the loci often cannot be amplified by multiplex PCRs. Therefore, a considerable number of single-locus PCRs have to be performed for the loci with missing results, which impairs the laboratory work flow. Therefore, the original in-house method described by Supply et al. in 2006 was reevaluated. We modified seven primers and the PCR master mixture and obtained a strongly optimized in-house 24-locus VNTR typing method. The percentage of instantly complete 24-locus VNTR patterns detected in the routine flow of typing activities increased to 84.7% from the 72.3% obtained with the typing conducted with the commercially available Genoscreen MIRU-VNTR typing kit. The analytical sensitivity of the optimized in-house method was assessed by serial dilutions of M. tuberculosis in bronchoalveolar lavage fluid. A 1:10 dilution of the different strains tested was the lowest dilution for the detection of a complete 24-locus VNTR pattern. The optimized in-house 24-locus VNTR typing method will reduce the turnaround time of typing significantly and also the financial burden of these activities. 相似文献
992.
Erica S. Shenoy Farzad Noubary JiYeon Kim Eric S. Rosenberg Jessica A. Cotter Hang Lee Rochelle P. Walensky David C. Hooper 《Journal of clinical microbiology》2014,52(4):1235-1237
The effect of concurrent administration of antibiotics on the detection of methicillin-resistant Staphylococcus aureus (MRSA) remains unresolved. Here, we assessed the concordance of paired nasal swabs processed using commercial PCR and culture and found high concordance in both the absence and presence of antibiotics with activity against MRSA (93.7% [95% confidence interval [CI], 88.1%, 96.8%] and 90.9% [95% CI, 84.8%, 94.7%], respectively), although PCR was more likely to be positive in the presence of antibiotics. (This study has been registered at ClinicalTrials.gov under registration no. .) NCT01234831相似文献
993.
994.
Meinie Seelen Anne E. Visser Daniel J. Overste Hong J. Kim A. Palud Tsz H. Wong John C. van Swieten Philip Scheltens Nicol C. Voermans Frank Baas J.M.B.V. de Jong Anneke J. van der Kooi Marianne de Visser Jan H. Veldink J. Paul Taylor Michael A. Van Es Leonard H. van den Berg 《Neurobiology of aging》2014
Inclusion body myopathy (IBM) associated with Paget disease of the bone, frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), sometimes called IBMPFD/ALS or multi system proteinopathy, is a rare, autosomal dominant disorder characterized by progressive degeneration of muscle, brain, motor neurons, and bone with prominent TDP-43 pathology. Recently, 2 novel genes for multi system proteinopathy were discovered; heterogenous nuclear ribonucleoprotein (hnRNP) A1 and A2B1. Subsequently, a mutation in hnRNPA1 was also identified in a pedigree with autosomal dominant familial ALS. The genetic evidence for ALS and other neurodegenerative diseases is still insufficient. We therefore sequenced the prion-like domain of these genes in 135 familial ALS, 1084 sporadic ALS, 68 familial FTD, 74 sporadic FTD, and 31 sporadic IBM patients in a Dutch population. We did not identify any mutations in these genes in our cohorts. Mutations in hnRNPA1 and hnRNPA2B1 prove to be a rare cause of ALS, FTD, and IBM in the Netherlands. 相似文献
995.
Daniel Condliffe Andrew Wong Claire Troakes Petroula Proitsi Yogen Patel Leonidas Chouliaras Cathy Fernandes Jonathan Cooper Simon Lovestone Leonard Schalkwyk Jonathan Mill Katie Lunnon 《Neurobiology of aging》2014
Epigenetic processes play a key role in the central nervous system and altered levels of 5-methylcytosine have been associated with a number of neurologic phenotypes, including Alzheimer's disease (AD). Recently, 3 additional cytosine modifications have been identified (5-hydroxymethylcytosine, 5-formylcytosine, and 5-carboxylcytosine), which are thought to be intermediate steps in the demethylation of 5-methylcytosine to unmodified cytosine. Little is known about the frequency of these modifications in the human brain during health or disease. In this study, we used immunofluorescence to confirm the presence of each modification in human brain and investigate their cross-tissue abundance in AD patients and elderly control samples. We identify a significant AD-associated decrease in global 5-hydroxymethylcytosine in entorhinal cortex and cerebellum, and differences in 5-formylcytosine levels between brain regions. Our study further implicates a role for epigenetic alterations in AD. 相似文献
996.
Jessica Lineth Rojas-Restrepo Jesús Armando Álvarez-ÁlvarezJuan David Montoya-Giraldo Claudia Milena Trujillo-Vargas 《Inmunología》2014
Introduction
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in the respiratory burst of phagocytes. Affected patients often suffer from granulomas and recurrent infections, mainly due to encapsulated bacteria.Aim
To standardize the dihydrorhodamine test (DHR) in Colombia used for the diagnosis of CGD by evaluating the respiratory burst in human blood neutrophils and monocytes after in vitro activation.Methods
Phagocyte respiratory burst in peripheral blood samples from 10 healthy controls was evaluated by flow cytometry after leukocyte activation with several concentrations of phorbol myristate acetate (PMA). The different oxidation patterns of DHR in X-linked or autosomal recessive CGD were also obtained.Results
The most suitable concentrations of PMA for the evaluation of the respiratory burst in peripheral blood were 0.2 to 5 μg/ml. Reference values for this test in neutrophils from our population were established. It was shown that the oxidation patterns of DHR in monocytes were not always identical to those observed in neutrophils.Conclusion
The evaluation of DHR oxidation by flow cytometry is a screening method that easily identifies the different phenotypes of CGD, with good sensitivity and at a lower cost. However, it is crucial that every laboratory establishes its own normal range for this test, in order to achieve the accurate characterization of this condition. DHR oxidation patterns may be also evaluated in different blood cells, since cell type-specific defects have also been reported. 相似文献997.
Beth H. Vogel Vincent Bonagura Geoffrey A. Weinberg Mark Ballow Jason Isabelle Lisa DiAntonio April Parker Allison Young Charlotte Cunningham-Rundles Chin-To Fong Jocelyn Celestin Heather Lehman Arye Rubinstein Subhadra Siegel Leonard Weiner Carlos Saavedra-Matiz Denise M. Kay Michele Caggana 《Journal of clinical immunology》2014,34(3):289-303
Purpose
To describe the process and assess outcomes for the first 2 years of newborn screening for severe combined immunodeficiency (SCID NBS) in New York State (NYS).Methods
The NYS algorithm utilizes a first-tier molecular screen for TRECs (T-cell receptor excision circles), the absence of which is indicative of increased risk of immunodeficiency.Results
During the first 2 years, 485,912 infants were screened for SCID. Repeat specimens were requested from 561 premature and 746 non-premature infants with low or borderline TRECs. A total of 531 infants were referred for diagnostic evaluation leading to identification of 10 infants with SCID and 87 with a clinically significant non-SCID abnormality based on flow cytometry or CBC results (positive predictive value 20.3 %). Nine infants were diagnosed with typical SCID and one with leaky SCID. SCID diagnoses included two patients with adenosine deaminase deficiency, three patients with typical and one with leaky IL2RG-related SCID, one patient with IL7Rα-related SCID, and three cases of typical SCID, etiology unknown. TRECs were undetectable in eight of the nine babies with typical SCID. Infants with other non-SCID conditions included 27 patients with a syndrome that included T-cell impairment, 18 of which had DiGeorge syndrome. Seventeen infants had T-cell impairment secondary to another clinically significant condition, and 13 were classified as ‘other’. Among 30 infants classified as idiopathic T-cell lymphopenia, 11 have since resolved, and the remainder continues to be followed. One infant with undetectable TRECs had normal follow-up studies. Molecular studies revealed the presence of two changes in the infant’s DNA.Conclusions
Overall, ten infants with SCID were identified during the first 2 years of screening in NYS, yielding an incidence of approximately 1 in 48,500 live births, which is consistent with the incidence observed by other states screening for SCID. The incidence of any clinically significant laboratory abnormality was approximately 1 in 5,000; both estimates are higher than estimates prior to the onset of newborn screening for SCID. Improvements to the NYS algorithm included the addition of a borderline category that reduced the proportion of infants referred for flow cytometric analysis, without decreasing sensitivity. We identified a large number of infants with abnormal TRECs and subsequent idiopathic T-cell lymphopenia. Long-term follow-up studies are needed to determine the prognosis and optimal treatment for this group of patients, some of whom may present with previously unrecognized, transient lymphopenia of infancy. 相似文献998.
Johanneke Kleinnijenhuis Jessica Quintin Frank Preijers Leo A.B. Joosten Cor Jacobs Ramnik J. Xavier Jos W.M. van der Meer Reinout van Crevel Mihai G. Netea 《Clinical immunology (Orlando, Fla.)》2014,155(2):213-219
Adaptive features of innate immunity, also termed ‘trained immunity’, have recently been shown to characterize monocytes of BCG vaccinated healthy volunteers. Trained immunity leads to increased cytokine production in response to non-related pathogens via epigenetic reprogramming of monocytes. Recently, memory-like properties were also observed in NK cells during viral infections, but it is unknown if memory properties of NK cells contribute to trained immunity due to BCG vaccination. 相似文献
999.
A case of Robin sequence,microgastria, radiohumeral synostosis,femoral deficiency,and other unusual findings: A newly recognized syndrome? 下载免费PDF全文
1000.
Simon B. Drysdale Jessica Lo Michael Prendergast Mireia Alcazar Theresa Wilson Mark Zuckerman Melvyn Smith Simon Broughton Gerrard F. Rafferty Janet L. Peacock Sebastian L. Johnston Anne Greenough 《European journal of pediatrics》2014,173(11):1497-1504
Our aim was to determine whether viral lower respiratory tract infections (LRTIs) adversely affect prematurely born infants’ lung function at follow up. Seventy infants, median gestational age 34 (range, 24–35)?weeks were prospectively followed; 32 had an RSV (n?=?14) or another respiratory viral (n?=?18) LRTI (viral LRTI group) and 38 had no LRTI (no LRTI group). Six of the viral LRTI and five of the no LRTI group had been hospitalised. Nasopharyngeal aspirates (NPAs) obtained whenever the infants had an LRTI. Lung function (functional residual capacity [FRCHe], compliance [Crs] and resistance [Rrs] of the respiratory system) was measured at 36 weeks postmenstrual age (PMA) and 1 year corrected. At 1 year, lung volume (FRCpleth) and airways resistance (Raw) were also assessed. There were no significant differences in the lung function of the two groups at 36 weeks PMA but at 1 year, the viral LRTI compared to the no LRTI group had a higher mean Raw (23 versus 17 cm H2O/l/s, p?=?0.0068), the differences remained significant after adjustment. Conclusion: These results suggest viral LRTIs, regardless of whether hospitalisation is required, adversely affect prematurely born infants’ airway resistance at follow up. 相似文献