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111.
Masatoshi Matsunami Akira Ishiguro Akinari Fukuda Kengo Sasaki Hajime Uchida Takanobu Shigeta Hiroyuki Kanazawa Seisuke Sakamoto Motoki Ohta Hisaya Nakadate Reiko Horikawa Atsuko Nakazawa Mika Ishige Koichi Mizuta Mureo Kasahara 《Pediatric transplantation》2015,19(3):E70-E74
PC is produced in the liver and inhibits blood coagulation by catalyzing active factors V and VIII. PC deficiency causes abnormal blood clotting that is difficult to regulate by anticoagulative treatments. Four reports of PC deficiency treated with LTx have been published; however, no report of DLT as a therapy for PC deficiency is available. We describe a case of a 23‐month‐old girl who received DLT for compound heterozygous PC deficiency. Her PC activity was below 5%. She developed intracranial lesion and frequent refractory purpura fulminans. Both her parents had heterozygous mutations of PC genes and were excluded as living donors. Furthermore, she was a low priority on the waiting list of deceased‐donor transplantation. We performed living DLT using the liver from a patient with MSUD. Activated PC concentrate safely supported the perioperative period. After DLT, she maintained normal PC activities and BCAA levels. This is the first case of PC deficiency successfully treated by living DLT with MSUD. We propose that DLT using liver from patients with MSUD is a treatment option for PC deficiency. 相似文献
112.
Koh Okamoto Shuji Hatakeyama Chise Sugita Kenichi Ogura Reiko Ueda Hiroko Kouda Junko Nakata 《Journal of infection and chemotherapy》2018,24(9):759-762
Toxigenic strains of Corynebacterium diphtheriae cause the majority of respiratory diphtheria cases. However, nontoxigenic strains of C. diphtheriae can also cause diseases, and have become increasingly common. Infection that is limited to the anterior nares (nasal diphtheria) is a well-described but rare condition, even for toxigenic C. diphtheriae. We report a case involving chronic carriage of nasal diphtheria caused by nontoxigenic C. diphtheriae, as well as a review of other reported nontoxigenic C. diphtheriae cases in Japan. Mild or asymptomatic nasal diphtheria involving nontoxigenic strains, which can be the source of transmission, may be underrecognized. Our case highlights the importance of awareness regarding nontoxigenic diphtheria among clinicians, especially in the era of improved diphtheria vaccination coverage. 相似文献
113.
Toshihiro Miyamoto Masaki Iino Yasuji Komorizono Toru Kiguchi Nobufusa Furukawa Maki Otsuka Shohei Sawada Yutaka Okamoto Kenji Yamauchi Toshitaka Muto Tomoaki Fujisaki Hisashi Tsurumi Kimitoshi Nakamura 《Internal medicine (Tokyo, Japan)》2021,60(5):699
Objective For patients with Gaucher disease (GD), a rare, inherited lysosomal storage disease, obtaining a definitive diagnosis is currently time-consuming and costly. A simplified screening method to measure the glucocerebrosidase (GBA) activity using dried blood spots (DBS) on filter paper has recently been developed. Using this newly developed screening method, we evaluated real-world GD screening in patients suspected of having GD. Methods This multicenter, cross-sectional, observational study with a diagnostic intervention component evaluated real-world screening in patients suspected of having GD based on their clinical symptoms and a platelet count <120,000/μL. The endpoint was the number of patients with low GBA activity determined using DBS. Results In 994 patients who underwent initial DBS screening, 77 had low GBA activity. The assay was not repeated in 1 patient who was diagnosed as having a high possibility of GD due to clinical symptoms, and a further 21 patients completed the study without undergoing the second assay. Of the remaining 55 patients who had 2 DBS assays performed, 11 had a low GBA activity in both assays. Overall, DBS screening identified 12 (1.2%) patients with a low GBA activity, a proportion consistent with prior screening studies. Conclusion These results suggest that the simplified DBS method was less burdensome to patients, was easily utilized by many physicians, and could be a useful first-tier screening assay for GD prior to initiating burdensome genetic testing. 相似文献
114.
Impaired synthesis of retinol-binding protein and transthyretin in rat liver with bile duct obstruction 总被引:1,自引:0,他引:1
Toru Imamine MD PhD Masataka Okuno MD PhD Hisataka Moriwaki MD PhD Yoshihiro Shidoji PhD Dr. Yasutoshi Muto MD PhD Mitsuru Seishima MD PhD Akio Noma MD PhD Soichi Kojima PhD 《Digestive diseases and sciences》1996,41(5):1038-1042
To gain further insight into the protein metabolism in bile duct-obstruction, we examined the synthesis of retinol-binding protein (RBP) and transthyretin (TTR) in rats with common bile duct-ligation. In these rats, liver and plasma levels of RBP and TTR decreased markedly, whereas liver retinoid contents remained unchanged. Although there appeared no decrease in the total amount of RBP or TTR mRNA expressed in the liver, the subcellular distribution of these mRNAs changed from the membrane-bound polysome fraction to the membrane-unbound polysome fraction. This abnormal distribution recovered rapidly after biliary drainage, resulting in the subsequent recovery of the plasma RBP and TTR levels. These observations suggest that cholestasis inhibits the synthesis and secretion of RBP and TTR by disrupting the binding of their mRNAs to membrane-bound polysomes. Plasma levels of RBP and TTR might be sensitive indicators of the recovery of protein synthesis after biliary drainage in patients with obstructive biliary disorders.Supported in part by Grant-in-Aids from the Ministry of Education, Science and Culture (05770350 to M.O.; 05670463 to H.M.; 07780553 to S.K.) and by a grant from the Ryoichi Naito Foundation for medical research (to S.K.). 相似文献
115.
Small "flat adenoma" of the large bowel with special reference to its clinicopathologic features 总被引:23,自引:12,他引:23
T Muto J Kamiya T Sawada F Konishi K Sugihara Y Kubota M Adachi S Agawa Y Saito Y Morioka 《Diseases of the colon and rectum》1985,28(11):847-851
Thirty-three small "flat adenomas," not more than 1 cm in diameter, were collected from surgically and colonoscopically removed specimens, and their colonoscopic and histologic characteristics were described. There were 14 adenomas with mild atypia, five with moderate atypia, 14 with severe atypia (or focal carcinoma limited to the mucosa). The grade of atypia seems to increase with the size of lesions, and these lesions were assumed to play an important role in the adenoma-carcinoma sequence. The importance of recognizing the presence of these small "flat adenomas" in everyday practice is stressed. 相似文献
116.
The purpose of this study is to evaluate the trends in age and anthropometric data for girls with Turner syndrome (TS) at start of growth hormone (GH) treatment in Japan. The data for analysis were obtained from a retrospective cohort, the Foundation for Growth Science, Japan. We analyzed trends in starting age of GH treatment for girls with TS in Japan after dividing subjects (n=1,478) into three registration periods: 1991-1994, 1995-1999 and 2000-2004. We also assessed the ratio of the subpopulation of subjects under five years of age. As results, the mean age (standard deviation (SD)) at start of GH treatment was significantly different among the three groups (10.95 (3.63), 10.15 (3.39) and 8.78 (3.61), p<0.0001). The proportion of the subjects under five years of age increased significantly over time (5.11%, 7.11% and 16.85%, p<0.0001). Mean (SD) height SD scores were also significantly different (-3.41 (0.87), -3.26 (0.81) and -3.17 (0.79), p<0.0001). However, the proportions of the karyotype of 45,X were not significantly different among the three groups (p=0.25). We concluded that age and shortness at initiation of GH treatment had been improving over time. However, these favorable trends have not fully met the conditions recommended by international clinical guidelines for TS. 相似文献
117.
Successful Transcatheter Embolization of Pseudoaneurysm Associated with Pancreatic Pseudocyst 总被引:1,自引:0,他引:1
Rikako Morita M.D. Nobuyoshi Muto M.D. Minoru Konagaya M.D. Tatsuya Honda M.D. Masayuki Miyazawa M.D. Satoshi Nakazawa M.D. Nobuhiro Kondo M.D. Norio Kimura M.D. Toshihiro Miura M.D. Shigeru Harasawa M.D. Takeshi Miwa M.D. Osamu Horie M.D. Yutaka Tanaka M.D. Makoto Ootaki M.D. 《The American journal of gastroenterology》1991,86(9):1264-1267
Hemorrhage into a pancreatic pseudocyst is a rare event, but is the most rapidly lethal complication of chronic pancreatitis. Visceral-vessel aneurysms are an unexpectedly common finding in arteriography of patients with chronic pancreatitis. This case report describes bleeding from an anterior superior pancreaticoduodenal artery aneurysm, caused by chronic pancreatitis. The aneurysm was successfully treated by embolization with a steel coil. 相似文献
118.
119.
Gastric Mucosal Injury Induced by Local Ischemia-Reperfusion in Rats (Role of Endogenous Endothelin-1 and Free Radical) 总被引:2,自引:0,他引:2
Mahmudul Hassan Hiromasa Kashimura Kazuhiko Matsumaru Akira Nakahara Riko Iwata Takashi Hayashi Hiroshi Muto Naomi Tanaka Katsutoshi Goto Hisayuki Fukutomi 《Digestive diseases and sciences》1997,42(7):1375-1380
We investigated the role of an endogenousvasoconstrictor peptide endothelin-1 (ET-1) and freeradicals in local gastric ischemia-reperfusion injury inrats. Local gastric ischemia was induced by clamping the left gastric artery for 15 min andreperfusion was done for 10-30 min in the presence of150 mM exogenous HCl intragastrically. Local gastricischemia and reperfusion resulted in significantmacroscopic and microscopic gastric mucosal damage togetherwith elevation of gastric tissue ET-1 concentration.Gastric tissue ET-1 was found to increase after 15 minof ischemia alone and also with 30 min of reperfusion. A novel nonpeptide endothelin receptorantagonist, bosentan, or a combination of radicalscavengers (superoxide dismutase, catalase, anddeferoxamine) both attenuated gastric mucosal injury.However, the greater protection observed with bosentan thanwith radical scavengers might reflect a preferentialrole of endothelin-1 in this type of injury. 相似文献
120.
Shivarov V Shinkura R Honjo T 《Proceedings of the National Academy of Sciences of the United States of America》2008,105(41):15866-15871
Activation-induced cytidine deaminase (AID) is essential for the DNA cleavage that initiates both somatic hypermutation (SHM) and class switch recombination (CSR) of the Ig gene. Two alternative mechanisms of DNA cleavage by AID have been proposed: RNA editing and DNA deamination. In support of the latter, AID has DNA deamination activity in cell-free systems that is assumed to represent its physiological function. To test this hypothesis, we generated various mouse AID mutants and compared their DNA deamination, CSR, and SHM activities. Here, we compared DNA deamination, CSR, and SHM activities of various AID mutants and found that most of their CSR or SHM activities were disproportionate with their DNA deamination activities. Specifically, we identified a cluster of mutants (H48A, L49A, R50A, and N51A) with low DNA deamination activity but relatively intact CSR activity. Of note is an AID mutant (N51A) that retained CSR function but lost DNA deamination activity. In addition, an APOBEC1 mutation at N57, homologous to N51 of AID, also abolished DNA deamination activity but retained RNA editing activity. These results indicate that DNA deamination activity does not represent the physiological function of AID. 相似文献