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21.
Fabi Marianna Andreozzi Laura Frabboni Ilaria Dormi Ada Corinaldesi Elena Lami Francesca Cicero Cristina Tchana Bertrand Francavilla Rosa Sprocati Monica Bigucci Barbara Balsamo Claudia Valin Paola Sogno Di Fazzio Giorgia Iughetti Lorenzo Valletta Enrico Marchetti Federico Donti Andrea Lanari Marcello 《Clinical rheumatology》2021,40(4):1507-1514
Clinical Rheumatology - Kawasaki disease (KD) is the most frequent cause of acquired heart disease in children in high-income countries because of coronary artery involvement. Risk factors for... 相似文献
22.
Giorgia Bertazzoni Alessandro Sgambato Mario Migaldi Antonella Grottola Anna Maria Teresa Sabbatini Nadia Nanni Alberto Farinetti Francesco Iachetta Elisabetta Giacobazzi Monica Pecorari Luca Reggiani Bonetti 《Journal of medical virology》2013,85(1):105-109
Testicular germ cell tumors account for about 1% of all cancers. The incidence of these tumors is increasing and they represent the most common solid malignancies of young men aged 15–40 years with seminoma being one of the most common histotype. Pathogenesis of testicular germ cell tumors remains unknown and, although cryptorchidism is considered the main risk factor, there is evidence of an association with environmental and genetic risk factors. Human papillomaviruses (HPV) are a family of DNA viruses and represent a major risk factor for cervical cancer. In addition, they have been associated with other human non‐malignant and malignant diseases, including breast and head and neck cancer. HPV sequences have been detected throughout the male lower genitourinary tract as well as in seminal fluid and an increased testicular tumorigenesis has been reported in HPV transgenic mice. Aim of this study was to evaluate the potential involvement of HPV in human testicular tumorigenesis. Real‐time PCR employing GP5+/GP6+ consensus HPV primers was used to examine the presence of HPV sequences in a subset of human seminoma (n = 61) and normal testicles (n = 23). None of the specimens tested displayed the presence of HPV DNA. These findings do not support an association between HPV and human seminoma and warrant further studies to assess definitively the role of these viruses in human testicular tumorigenesis. J. Med. Virol. 85:105–109, 2012. © 2012 Wiley Periodicals, Inc. 相似文献
23.
Claudia Brogna Giorgia Coratti Rachele Rossi Marcella Neri Sonia Messina Adele D’ Amico Claudio Bruno Simona Lucibello Gianluca Vita Angela Berardinelli Francesca Magri Federica Ricci Marina Pedemonte Tiziana Mongini Roberta Battini Luca Bello Elena Pegoraro Giovanni Baranello Eugenio Mercuri 《Neuromuscular disorders : NMD》2021,31(6):479-488
The aim was to assess 3-year longitudinal data using 6MWT in 26 ambulant boys affected by DMD carrying nonsense mutations and to compare their results to other small mutations. We also wished to establish, within the nonsense mutations group, patterns of change according to several variables. Patients with nonsense mutations were categorized according to the stop codon type newly created by the mutation and also including the adjacent 5′ (upstream) and 3′ (downstream) nucleotides. No significant difference was found between nonsense mutations and other small mutations (p > 0.05) on the 6MWT. Within the nonsense mutations group, there was no difference in 6MWT when the patients were subdivided according to: Type of stop codon, frame status of exons involved, protein domain affected. In contrast, there was a difference when the stop codon together with the 3′ adjacent nucleotide (“stop+4 model”) was considered (p < 0.05) with patients with stop codon TGA and 3′ adjacent nucleotide G (TGAG) having a more rapid decline. Our finding suggest that the stop+4 model may help in predicting functional changes. This data will be useful at the time of interpreting the long term follow up of patients treated with Ataluren that are becoming increasingly available. 相似文献
24.
Ccile Toly‐Ndour Stphanie Huguet‐Jacquot Agns Mailloux Hlne Delaby Giorgia Canellini Martin L. Olsson Agneta Wikman Joke M. Koelewijn Jean‐Marc Minon Tobias J. Legler Frederik B. Clausen Mark Lambert Helen Ryan Irena Bricl Sys Hasslund Agnieszka Orzinska Katarzyna Guz Malgorzata Uhrynowska Antonella Matteocci Nuria Nogues Eduardo Muniz‐Diaz Susanna Sainio Masja De Haas C. Ellen Van der Schoot 《ISBT科学丛刊》2021,16(1):106-118
25.
Federica Vernuccio Mariangela Dimarco Giorgia Porrello Roberto Cannella Silvestro Cusmà Massimo Midiri Giuseppe Brancatelli 《Current problems in diagnostic radiology》2021,50(2):229-235
Splenosis is a benign acquired condition characterized by the presence of heterotopic viable splenic tissue in other organs or within cavities such as peritoneum, retroperitoneum, or thorax after splenic trauma or surgery. Abdominal splenosis is often an incidental finding and computed tomography and magnetic resonance usually allow a confident diagnosis. The typical enhancement that parallels the spleen is a useful hallmark of splenosis. Splenic implants lack contrast uptake in the hepatobiliary phase and show high signal at high b-values on diffusion-weighted images. In some cases splenosis may mimic malignant and benign conditions in the peritoneum as well as in hollow and parenchymal abdominal organs and further investigations – including scintigraphy with Tc99m-labelled heat-denatured red blood cells or biopsy – are sometimes required in challenging cases. This pictorial essay reviews the imaging presentation and potential differential diagnosis of splenosis according to the site of implantation. A prompt and accurate radiological diagnosis of splenosis can avoid unnecessary biopsy or surgery. 相似文献
26.
Paola Monti Debora Russo Renata Bocciardi Giorgia Foggetti Paola Menichini Maria T. Divizia Margherita Lerone Claudio Graziano Anita Wischmeijer Hector Viadiu Roberto Ravazzolo Alberto Inga Gilberto Fronza 《Human mutation》2013,34(6):894-904
TP63 germ‐line mutations are responsible for a group of human ectodermal dysplasia syndromes, underlining the key role of P63 in the development of ectoderm‐derived tissues. Here, we report the identification of two TP63 alleles, G134V (p.Gly173Val) and insR155 (p.Thr193_Tyr194insArg), associated to ADULT and EEC syndromes, respectively. These alleles, along with previously identified G134D (p.Gly173Asp) and R204W (p.Arg243Trp), were functionally characterized in yeast, studied in a mammalian cell line and modeled based on the crystal structure of the P63 DNA‐binding domain. Although the p.Arg243Trp mutant showed both complete loss of transactivation function and ability to interfere over wild‐type P63, the impact of p.Gly173Asp, p.Gly173Val, and p.Thr193_Tyr194insArg varied depending on the response element (RE) tested. Interestingly, p.Gly173Asp and p.Gly173Val mutants were characterized by a severe defect in transactivation along with interfering ability on two DN‐P63α‐specific REs derived from genes closely related to the clinical manifestations of the TP63‐associated syndromes, namely PERP and COL18A1. The modeling of the mutations supported the distinct functional effect of each mutant. The present results highlight the importance of integrating different functional endpoints that take in account the features of P63 proteins' target sequences to examine the impact of TP63 mutations and the associated clinical variability. 相似文献
27.
Giovanni Novembre Marco Zanon Giorgia Silani 《Social cognitive and affective neuroscience》2015,10(2):153-164
Recent research has shown that experiencing events that represent a significant threat to social bonds activates a network of brain areas associated with the sensory-discriminative aspects of pain. In the present study, we investigated whether the same brain areas are involved when witnessing social exclusion threats experienced by others. Using a within-subject design, we show that an ecologically valid experience of social exclusion recruits areas coding the somatosensory components of physical pain (posterior insular cortex and secondary somatosensory cortex). Furthermore, we show that this pattern of activation not only holds for directly experienced social pain, but also during empathy for social pain. Finally, we report that subgenual cingulate cortex is the only brain area conjointly active during empathy for physical and social pain. This supports recent theories that affective processing and homeostatic regulation are at the core of empathic responses. 相似文献
28.
Fabrizio Drago Massimo Stefano Silvetti Antonella De Santis Giorgia Grutter Peter Andrew 《Journal of interventional cardiac electrophysiology》2006,16(3):191-198
Introduction Cryoablation is an effective treatment for children with supraventricular tachycardias (SVT). The present study documents
the effect of two different cryoablation protocols on acute and chronic success rates.
Methods and results Fifty-three consecutive patients (age range, 5–20 years) were treated; patients 1 to 17 were treated by a standard ablation protocol and patients 18 to 53 were treated by a modified ablation protocol that required lengthier cryoablations plus delivery of a bonus cryoapplication to consolidate the acutely successful irreversible lesion created at intervention. Electrophysiological study
(EPS) was performed with diagnostic catheters and cryoablations were performed with a 7FR 4 mm tip catheter (CryoCath Technologies).
Acute endpoints for non-inducibility of atrioventricular nodal re-entrant tachycardia (AVNRT) by programmed atrial stimulation
at baseline or during isoproterenol performed 30 min post procedure, as well as non-inducibility and conduction block over
the accessory pathway (AP). The chronic endpoint was arrhythmia recurrence post intervention. No permanent cryo-related complications
or adverse outcomes were reported. Acute success rates for patients 1 to 17 and 18 to 53 were 88 and 100%, respectively. The
cumulative percentage of patients without arrhythmia recurrence at 12 month follow-up was significantly different at 73 and
90%, respectively.
Conclusions Lengthier cryoablation delivery, approximating 7 min per cryoablation, increases the acute success rate at intervention. Moreover,
these lengthier cryoablation deliveries plus a bonus cryoapplication to consolidate the acutely successful irreversible lesion
created at intervention may also significantly improve the chronic success rate, while also maintaining an excellent safety profile for cryoablation
treatment of children with SVT such as AVNRT and AP located near the AV junction. 相似文献
29.
30.
Gabriele?Donati Maria?Ilaria?Moretti Olga?Baraldi Alessandra?Spazzoli Irene?Capelli Giorgia?Comai Antonio?Marchetti Maria?Sarma Rita?Mancini Gaetano?La MannaEmail author 《BMC nephrology》2016,17(1):193