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排序方式: 共有4906条查询结果,搜索用时 23 毫秒
1.
Kei Kamide Yoshihiro Kokubo Hironori Hanada Junko Nagura Jin Yang Shin Takiuchi Chihiro Tanaka Mariko Banno Yoshikazu Miwa Masayoshi Yoshii Tetsutaro Matayoshi Hisayo Yasuda Takeshi Horio Akira Okayama Hitonobu Tomoike Yuhei Kawano Toshiyuki Miyata 《Hypertension research》2006,29(4):243-252
Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. Here, we have studied whether genetic variations in HDS11B2 are implicated in essential hypertension in Japanese hypertensives and the general population. By sequencing the entire coding region and the promoter region of HDS11B2 in 953 Japanese hypertensives, we identified five missense mutations in 11 patients (L14F, n = 5; R74H, n = 1; R147H, n = 3; T156I, n = 1; R335H, n = 1) and one novel frameshift mutation (4884Gdel, n = 1) in a heterozygous state, in addition to 19 genetic variations. All genetic variations identified were rare, with minor allele frequencies less than 0.005. Four of 12 patients with the missense/frameshift mutations showed renal failure. Four missense mutations, L14F, R74H, R147H, and R335H, were successfully genotyped in the general population, with a sample size of 3,655 individuals (2,175 normotensives and 1,480 hypertensives). Mutations L14F, R74H, R147H, and R335H were identified in hypertensives (n = 6, 8, 3, and 0, respectively) and normotensives (n = 8, 12, 5, and 0, respectively) with a similar frequency, suggesting that these missense mutations may not strongly affect the etiology of essential hypertension. Since the allele frequency of all of the genetic variations identified in this study was rare, an association study was not conducted. Taken together, our results indicate that missense mutations in HSD11B2 do not substantially contribute to essential hypertension in Japanese. 相似文献
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Sho Takahashi Hisato Homma Takehide Akiyama Shinichi Mesawa Kenichiro Hirata Katsuhisa Kogawa Kunihiro Takanashi Hirotoshi Ishiwatari Yutaka Kawano Tsuyoshi Hayashi Kohichi Takada Koji Miyanishi Junji Kato Yoshiro Niitsu 《Nihon Shokakibyo Gakkai zasshi》2007,104(8):1236-1244
A 75-year-old man had been admitted to another hospital because of left abdominal pain, and was given a diagnosis of left hydronephrosis and acute pancreatitis. After a JJ stent insertion and medication, he was transferred to our hospital for further examinations. US and EUS revealed a chronic pancreatitis-like pattern and multicystic lesion in the pancreas head and body. At that time enhanced CT findings showed an extrapancreatic low density area to be inflammatory change, extending from the pancreas body to the left crus of the diaphragm and posteriorly the spreading from the left crus of the diaphragm via the left urinary duct into the left iliopsoas muscle, in which MRI revealed partial high intensity. ERCP and MRCP showed focal irregular narrowing of the pancreatic duct of unknown cause, and we decided that an internal pancreatic fistula due to pancreatitis had induced left ureteral obstruction, caused by a protein plug or alcohol. Follow-up 6 months later showed that extrapancreatic spreading of the low density area had markedly regressed without any change in the ureteral obstruction. 相似文献
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Among diseases due to cerebral parasitism, that caused by Sparganum mansoni, the larva of Spirometra mansoni, is very rare. We have encountered two such cases. A computed tomography scan in both revealed a nodular high density contrast enhanced area against an extensive low density background area. Neither calcification nor cyst formation was recognized. These computed tomography scan findings were thought to be characteristic for cerebral sparganosis mansoni and were difficult to differentiate from those of a cerebral tumor. In both cases, definitive diagnosis was achieved by identification of the worm after excision of the lesion. The best treatment for cerebral sparganosis mansoni is surgical excision of the lesion, and in the two cases presented the postoperative outcome was good. 相似文献
6.
Staging of esophageal carcinoma in vitro with 4.7-T MR imaging 总被引:4,自引:0,他引:4
7.
Yoshihiro Kokubo Hitonobu Tomoike Chihiro Tanaka Mariko Banno Tomohiko Okuda Nozomu Inamoto Kei Kamide Yuhei Kawano Toshiyuki Miyata 《Hypertension research》2006,29(8):611-619
We previously selected a group of hypertension candidate genes by a key word search using the OMIM database of NCBI and validated 525 coding single nucleotide polymorphisms (SNPs) in 179 hypertension candidate genes by DNA sequencing in a Japanese population. In the present study, we examined the association between 61 non-synonymous SNPs and blood pressure variations and hypertension. We used DNA samples taken from 1,880 subjects in the Suita study, a population-based study using randomly selected subjects. Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations. Multivariate logistic regression analysis with adjustment for the same factors revealed that 11 polymorphisms in 11 genes (CAST, CTLA4, F5, GC, GHR, LIPC, PLA2G7, SLC4A1, SLCI8A1, TRH, VWF) showed significant associations with hypertension. Five polymorphisms in five genes, CAST(calpastatin), LIPC (hepatic lipase), SLC4A1 (band 3 anion transporter), TRH (thyrotropin-releasing hormone), and VWF (von Willebrand factor), were significantly associated with both blood pressure variation and hypertension. Thus, our study suggests that these five genes were susceptibility genes for essential hypertension in this Japanese population. 相似文献
8.
S Kojima M Kanashiro T Sanai M Imanishi M Kawamura Y Kawano G Kimura M Kuramochi H Amemiya T Omae 《Nephron》1992,61(1):89-93
While serum magnesium (Mg) level is increased in patients with end-stage renal disease (ESRD), it is decreased in renal transplant recipients (TR) receiving ciclosporin. This study was performed to examine the cation metabolism of red blood cells (RBC) in these patients. Intracellular free Mg was measured with 31P-nuclear magnetic resonance spectrometry, and ouabain-sensitive sodium (Na) efflux rate (Eos) was measured from the increase in RBC-Na concentration when RBC were incubated in the presence of ouabain. The ouabain-sensitive Na efflux rate constant (ERCos) was obtained by dividing Eos by RBC-Na concentration. RBC free Mg and ERCos were significantly higher in the TR group than in the ESRD group. There was a significant correlation between RBC free Mg and ERCos (r = 0.474, p less than 0.01). These results support the views that the regulation mechanism for intracellular free Mg is different from that for extracellular Mg in patients with renal disease, and intracellular free Mg modulates Na pump activity of RBC. 相似文献
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10.
Twenty-one patients were submitted to investigate serum complements (CH50, C3, C4) after aneurysmal subarachnoid hemorrhage during a 2 to 3-week period. As for the control, the same examination was carried out in patients with non-subarachnoid hemorrhage such as hypertensive intracerebral hemorrhage. There was no remarkable changes of serum complements in the control patients. Preoperative grading (Hunt & Hess) was well correlated with C4 level but not C3 level. Ce and C4 level of the patients without symptomatic vasospasm did not change markedly after subarachnoid hemorrhage during the investigation, while they decreased severely in patients with severe vasospasm and major neurological deficit. The patients with mild symptomatic vasospasm without major neurological deficit showed transient decrease of C3 and C4 level in the period of 5 to 10 days after subarachnoid hemorrhage. These data show that sequential determinations of serum complements (C3 and C4) level after subarachnoid hemorrhage is a useful method for the choice of therapy, and for the prognosis of aneurysmal patients after subarachnoid hemorrhage. 相似文献