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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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3.
Treatment strategy for synchronous metastases of colorectal cancer: is hepatic resection after an observation interval appropriate? 总被引:1,自引:1,他引:0
Yasuhiro Shimizu Kenzo Yasui Tsuyoshi Sano Takashi Hirai Yukihide Kanemitsu Koji Komori Tomoyuki Kato 《Langenbeck's archives of surgery / Deutsche Gesellschaft fur Chirurgie》2007,392(5):535-538
Background In cases of synchronous colorectal hepatic metastases, the primary colorectal cancer strongly influences on the metastases.
Our treatment policy has been to conduct hepatic resection for the metastases at an interval of 3 months after colorectal
resection. We examined the appropriateness of interval hepatic resection for synchronous hepatic metastasis.
Materials and methods The subjects were 164 patients who underwent resection of hepatic metastasis of colorectal cancer (synchronous, 70 patients;
metachronous, 94 patients). Background factors for hepatic metastasis and postoperative results were compared for synchronous
and metachronous cases.
Results The cumulative survival rate for 164 patients at 3, 5, and 10 years postoperatively was 71.9%, 51.8%, and 36.6%, and the post-resection
recurrence rate in remnant livers was 26.8%. Interval resection for synchronous hepatic metastases was conducted in 49 cases
after a mean interval of 131 days. No difference was seen in postoperative outcome between synchronous and metachronous cases.
Conclusion The outcome was similarly favorable in cases of synchronous hepatic metastasis and in cases of metachronous metastasis. Delaying
resection allows accurate understanding of the number and location of hepatic metastases, and is beneficial in determining
candidates for surgery and in selecting surgical procedure. 相似文献
4.
Akio Sakamoto Tatsuya Yoshida Hidetaka Yamamoto Yoshinao Oda Masazumi Tsuneyoshi Yukihide Iwamoto 《Journal of orthopaedic science》2007,12(4):361-365
Background Congenital pseudarthrosis of the tibia (CPT) is frequently, but not always, associated with neurofibromatosis type 1 (NF1).
Double inactivation of the NF1 gene has been reported to be the pathogenesis of CPT in NF1 cases.
Methods We analyzed the loss of heterozygosity (LOH) of the NF1 gene in cases of CPT with NF1 to examine whether double inactivation was seen in the case. In addition to morphological analysis,
immunoexpression of differentiation markers was examined.
Results and discussion The tibia tapered with the zone phenomenon from mature to immature bone with osteoblastic rimming, resembling osteofibrous
dysplasia. Osteosclerotic bowed bone with a small number of osteoclasts suggested dysfunction of bone remodeling. Fibrous
tissue at the site of pseudarthrosis was associated with the periosteum and demonstrated myofibroblastic differentiation accompanied
by massive cartilage formation, suggesting some misdirection during the differentiation of periosteum to myofibroblasts or
chondrocytes. LOH of the NF1 gene locus was not seen in fibrous tissue. This result suggests that CPT is not accompanied by double inactivation in every
NF1 case. 相似文献
5.
6.
Yoshinao Oda Masazumi Tsuneyoshi Hiroshi Hashimoto Toshimitsu Iwashita Masahiro Ushijima Sachio Masuda Yukihide Iwamoto Yoichi Sugioka 《Virchows Archiv : an international journal of pathology》1993,423(1):65-69
Primary rhabdomyosarcoma of bone is exceedingly rare. We present a case of rhabdomyosarcoma of the iliac bone in a 32-year-old male. Histologically, the tumour consisted mainly of a uniform proliferation of elongated spindle cells arranged in a herring bone pattern, simulating fibrosarcoma. Focally there was a conventional embryonal pattern with scattered rhabdomyoblasts possessing an eosinophilic cytoplasm. Immunohistochemical studies disclosed expression of muscle markers such as desmin and muscle-specific actin, in both the embryonal and spindle-cell areas and myoglobin only in the embryonal areas. Such histological features are unusual for classical embryonal rhabdomyosarcoma. The anatomical site and age of the patient are also atypical. 相似文献
7.
8.
Yasuko Tomizawa Asako Tokumine Shinji Ninomiya Naoki Momose Toru Matayoshi 《Journal of artificial organs》2008,11(3):117-122
The heart-lung machines for open-heart surgery have improved over the past 50 years; they rarely break down and are almost always equipped with backup batteries. The hand-cranking procedure only becomes necessary when a pump breaks down during perfusion or after the batteries have run out. In this study, the performance of hand cranking a roller pump was quantitatively assessed by an objective method using the ECCSIM-Lite educational simulator system. A roller pump connected to an extracorporeal circuit with an oxygenator and with gravity venous drainage was used. A flow sensor unit consisting of electromagnetic sensors was used to measure arterial and venous flow rates, and a built-in pressure sensor was used to measure the water level in the reservoir. A preliminary study of continuous cranking by a team of six people was conducted as a surprise drill. This system was then used at a perfusion seminar. At the seminar, 1-min hand-cranking drills were conducted by volunteers according to a prepared scenario. The data were calculated on site and trend graphs of individual performances were given to the participants as a handout. Preliminary studies showed that each person's performance was different. Results from 1-min drills showed that good performance was not related to the number of clinical cases experienced, years of practice, or experience in hand cranking. Hand cranking to maintain the target flow rate could be achieved without practice; however, manipulating the venous return clamp requires practice. While the necessity of performing hand cranking during perfusion due to pump failure is rare, we believe that it is beneficial for perfusionists and patients to include hand-cranking practice in periodic extracorporeal circulation crisis management drills because a drill allows perfusionists to mentally rehearse the procedures should such a crisis occur. 相似文献
9.
Kawaguchi K Oda Y Saito T Yamamoto H Tamiya S Takahira T Miyajima K Iwamoto Y Tsuneyoshi M 《The Journal of pathology》2003,201(3):487-495
The p16INK4a tumour suppressor gene, encoding p16 protein, plays a crucial role in regulation of the G1 cell-cycle phase. To investigate the potential role of p16 in soft tissue leiomyosarcoma (LMS), an immunohistochemical analysis was performed of 77 LMSs for p16 expression. Decreased expression of the p16 protein was identified in 25 of 77 LMSs (32%). Decreased expression of p16 correlated significantly with large tumour size (p=0.0038). In a univariate analysis, large tumour size and decreased expression of p16 were statistically significant adverse prognostic factors (p=0.025 and p=0.0021, respectively). In a multivariate analysis including conventional clinicopathological parameters, decreased expression of p16 protein was revealed as the only independent unfavourable prognostic factor (p=0.012). To elucidate the mechanisms of inactivation of the p16INK4a gene, 49 LMSs for which genomic DNA was available were examined; analysis for homozygous deletion, mutation, and promoter hypermethylation was conducted using differential PCR, PCR-SSCP, and methylation-specific PCR, respectively. Promoter hypermethylation was detected in 11 of 49 LMS cases (22%); homozygous deletion was detected in 3 of 49 cases (6%); and mutation was not recognized in any of the cases studied. Eight of 15 cases (53%) with decreased expression of p16 protein revealed methylation of the p16INK4a gene promoter. Promoter hypermethylation correlated closely with decreased expression and poor prognosis (p=0.0014 and p=0.0088, respectively). These results suggest that decreased expression of p16 protein can be considered as an independent reliable prognostic parameter in patients with soft tissue LMS. Furthermore, promoter methylation was more frequent than either homozygous deletion or mutation in this tumour, and promoter methylation was also shown to have a strong association with inactivation of the p16INK4a gene. 相似文献
10.
Saito T Oda Y Tanaka K Matsuda S Sakamoto A Yamamoto H Iwamoto Y Tsuneyoshi M 《Pathology international》2003,53(2):115-120
We present the clinical, radiographical and pathological features of low-grade fibrosarcoma of the left proximal humerus in a 23-year-old man in whom it was necessary to distinguish the tumor from desmoplastic fibroma, malignant fibrous histiocytoma and intramedullary well-differentiated osteosarcoma. The patient presented with a 10-day history of pain in his left upper arm sustained when trying to break his fall with his left hand when slipping in the street. Plain radiography revealed an expanding multilobular osteolytic lesion from the proximal metaphysis to the diaphysis of his left humerus, accompanied by a pathological fracture at the distal portion of the lesion. Open biopsy of the lesion was performed twice; however, a conclusive diagnosis could not be obtained. The patient underwent wide excision and prosthetic replacement of the left proximal humerus. Histologically, the resected tumor was composed of both cellular areas and hypocellular areas. Cellular areas revealed a proliferation of bundles of uniform fibroblastic spindle-shaped cells with minimal cellular atypia, mixed with abundant intercellular collagenization. Mitotic figures were occasionally seen. Hypocellular areas showed myxoid features with loose bundles of collagen fibers. The patient demonstrates no evidence of disease 42 months after surgery. It is important to detect the scant atypical cells for the differential diagnosis of low-grade fibrosarcoma and desmoplastic fibroma of bone. 相似文献