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991.
Rabinowe SN; Neuberg D; Bierman PJ; Vose JM; Nemunaitis J; Singer JW; Freedman AS; Mauch P; Demetri G; Onetto N 《Blood》1993,81(7):1903-1908
One hundred and twenty-eight patients with non-Hodgkin's lymphoma (NHL), Hodgkin's disease (HD), and acute lymphoblastic leukemia (ALL) previously reported from a phase III trial of rhGM-CSF or placebo following autologous bone marrow transplantation (ABMT) were investigated for the development of late toxicities. Median follow-up is 36 months. No apparent long-term deleterious effects on BM function were observed. Moreover, disease-free survival and overall survival were similar for patients on both treatment arms, arguing for the long- term safety of recombinant human granulocyte macrophage-colony- stimulating factor (rhGM-CSF). The only factors predictive for both a high risk of relapse over time and mortality were having the diagnosis of ALL and/or undergoing ABMT in resistant relapse. We attempted to identify clinical variables before BM harvest, at the time of marrow infusion, or events within the first 100 days posttransplant, which might predict speed of neutrophil recovery in the setting of placebo or rhGM-CSF administration after ABMT. Only previous exposure to agents that deplete stem cells led to a significant delay in neutrophil recovery, suggesting their avoidance in patients who may undergo ABMT. Nevertheless, even those patients benefited from rhGM-CSF. For all patients, rhGM-CSF and agents that deplete stem cells were the strongest independent predictors for neutrophil engraftment. With the increasing use of newer hematopoietic growth factors both alone and in combination, long-term follow-up is essential to confirm the same safety that we report with rhGM-CSF. 相似文献
992.
Serum hepatitis B surface antigen correlates with fibrosis and necroinflammation: A multicentre perspective in China 下载免费PDF全文
P. Zhang HB. Du GD. Tong XK. Li XH. Sun XL. Chi YF. Xing ZH. Zhou Q. Li B. Chen H. Wang L. Wang H. Jin DW. Mao XB. Wang QK. Wu FP. Li XY. Hu BJ. Lu ZY. Yang MX. Zhang WB. Shi Q. He Y. Li KP. Jiang JD. Xue XD. Li JM. Jiang W. Lu GJ. Tian ZB. Hu JC. Guo CZ. Li X. Deng XL. Luo FY. Li XW. Zhang YJ. Zheng G. Zhao LC. Wang JH. Wu H. Guo YQ. Mi ZJ. Gong CB. Wang F. Jiang P. Guo XZ. Yang WQ. Shi HZ. Yang Y. Zhou NN. Sun YT. Jiao YQ. Gao DQ. Zhou YA. Ye 《Journal of viral hepatitis》2018,25(9):1017-1025
The kinetics of serum hepatitis B surface antigen (HBsAg) during the natural history of hepatitis B virus (HBV) infection has been studied, but the factors affecting them remain unclear. We aimed to investigate the factors affecting HBsAg titres, using data from multicentre, large‐sized clinical trials in China. The baseline data of 1795 patients in 3 multicentre trials were studied, and the patients were classified into 3 groups: hepatitis B early antigen (HBeAg)‐positive chronic HBV infection (n = 588), HBeAg‐positive chronic hepatitis B (n = 596), and HBeAg‐negative chronic hepatitis B (n = 611). HBsAg titres in the different phases were compared, and multiple linear progression analyses were performed to investigate the implicated factors. HBsAg titres varied significantly in different phases (P = .000), with the highest (4.60 log10 IU/mL [10%‐90% confidence interval: 3.52 log10 IU/mL‐4.99 log10 IU/mL]) in patients with HBeAg‐positive chronic HBV infection. In all phases, age and HBV DNA were correlated with serum HBsAg level. In HBeAg‐positive chronic hepatitis B patients, a negative correlation between HBsAg titres and fibrosis stage was observed. Alanine amonitransferase or necroinflammatory activity was also correlated with HBsAg titres in HBeAg‐negative chronic hepatitis B patients. In conclusion, decreased HBsAg titres may be associated with advancing fibrosis in HBeAg‐positive chronic hepatitis B patients or increased necroinflammation in those with HBeAg‐negative chronic hepatitis B. Our findings may help clinicians better understand the kinetics of HBsAg and provide useful insights into the management of this disease. 相似文献
993.
994.
M-J Castro AH Stam C Lemos B de Vries KRJ Vanmolkot J Barros GM Terwindt RR Frants J Sequeiros MD Ferrari JM Pereira-Monteiro & AMJM van den Maagdenberg 《Cephalalgia : an international journal of headache》2009,29(3):308-313
Almost all mutations in the SCN1A gene, encoding the α1 subunit of neuronal voltage-gated NaV 1.1 sodium channels, are associated with severe childhood epilepsy. Recently, two mutations were identified in patients with pure familial hemiplegic migraine (FHM). Here, we identified a novel SCN1A L263V mutation in a Portuguese family with partly co-segregating hemiplegic migraine and epilepsy. The L263V mutation segregated in five FHM patients, three of whom also had epileptic attacks, occurring independently from their hemiplegic migraine attacks. L263V is the first SCN1A mutation associated with FHM and co-occurring epilepsy in multiple mutation carriers, and is the clearest molecular link between migraine and epilepsy thus far. The results extend the clinical spectrum associated with SCN1A mutations and further strengthen the molecular evidence that FHM and epilepsy share, at least in part, similar molecular pathways. 相似文献
995.
996.
997.
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2) 总被引:13,自引:5,他引:8
Serratosa JM; Gomez-Garre P; Gallardo ME; Anta B; de Bernabe DB; Lindhout D; Augustijn PB; Tassinari CA; Malafosse RM; Topcu M; Grid D; Dravet C; Berkovic SF; de Cordoba SR 《Human molecular genetics》1999,8(2):345-352
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2;
McKusick no. 254780) is an autosomal recessive disorder characterized by
epilepsy, myoclonus, progressive neurological deterioration and
glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for
EPM2 previously has been mapped to chromosome 6q23- q25 using linkage
analysis and homozygosity mapping. Here we report the positional cloning of
the 6q EPM2 gene. A microdeletion within the EPM2 critical region, present
inhomozygosis in an affected individual, was found to disrupt a novel gene
encoding a putative protein tyrosine phosphatase (PTPase). The gene,
denoted EPM2, presents alternative splicing in the 5' and 3' end regions.
Mutational analysis revealed that EPM2 patients are homozygous for
loss-of-function mutations in EPM2. These findings suggest that Lafora
disease results from the mutational inactivation of a PTPase activity that
may be important in the control of glycogen metabolism.
相似文献
998.
JM Wilmshurst NH Thomas RO Robinson JB Bingham KRE Pohl 《Acta paediatrica (Oslo, Norway : 1992)》2001,90(6):691-703
This study assesses the frequency of lower limb and back pain in children with Guillain-Barré syndrome and reviews the magnetic resonance imaging results of those undergoing spinal imaging. Over an 8-y period, nine children presented with various combinations of severe back pain, leg pains, impairment of gait and bladder dysfunction. Guillain-Barré syndrome was confirmed on clinical examination and peripheral electrophysiology ( n = 8). Magnetic resonance imaging in four patients, following contrast injection, showed enhancement of the cauda equine and, additionally, of the cervical nerve roots in one of the patients. A further patient, who was not scanned with contrast, had abnormal thickening of the lumbar roots. Carbamazepine and steroids were effectively used for analgesia in three cases. All the patients recovered.
Conclusion: Guillain-Barré syndrome should be considered in the differential diagnosis of children presenting with back and/or leg pain. Early diagnosis ensures prompt monitoring for autonomic dysfunction and respiratory compromise. 相似文献
Conclusion: Guillain-Barré syndrome should be considered in the differential diagnosis of children presenting with back and/or leg pain. Early diagnosis ensures prompt monitoring for autonomic dysfunction and respiratory compromise. 相似文献
999.
1000.