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51.
Clinical similarities of hereditary progressive/dopa responsive
dystonia caused by different types of mutations in the GTP
cyclohydrolase I gene 下载免费PDF全文
Y. Tamaru M. Hirano H. Ito J. Kawamura S. Matsumoto T. Imai S. Ueno 《Journal of neurology, neurosurgery, and psychiatry》1998,64(4):469-473
OBJECTIVE—Hereditary progressive dystonia withpronounced diurnal fluctuation ((HPD)/dopa responsive dystonia (DRD))is a childhood onset dystonia which responds to levodopa. Variousclinical signs and symptoms of HPD/DRD have been recognised to date.Mutations in the GTP cyclohydrolase I (GTP-CH-I) gene were recentlyidentified as the cause of HPD/DRD. In the present study, the GTP-CH-Igene and the clinical features of eight HPD/DRD patients from sixfamilies were analysed to determine the correlationsbetween clinical expression and the mutations in the GTP-CH-I gene.
METHODS—The exons, exon-intron junctions, and anindispensable part of the 5' flanking region of the GTP-CH-I gene weresequenced in the eight clinically diagnosed patients with HPD/DRD andtheir asymptomatic parents.
RESULTS—Three independent mutations in theGTP-CH-I gene were found in three patients. One of the patients and herasymptomatic mother were heterozygous for a novel mutation at theinitiation codon. The three patients with dissimilar GTP-CH-I mutationsexhibited similar clinical features. The other five patients withnormal sequences presented several features not manifested by the three patients with the mutations. No mutation was found in the 5' flanking region of any patients or their parents.
CONCLUSIONS—A novel initiation codon mutation wasfound in a Japanese patient with HPD/DRD. The clinical manifestationscommon to the patients with HPD/DRD with a mutated GTP-CH-I gene werealso identified. Although focal manifestations of HPD/DRD associatedwith the mutations of this gene will be broadened, it is inferred thatthese clinical features are fundamental to HPD/DRD caused by mutationsin this gene.
相似文献
METHODS—The exons, exon-intron junctions, and anindispensable part of the 5' flanking region of the GTP-CH-I gene weresequenced in the eight clinically diagnosed patients with HPD/DRD andtheir asymptomatic parents.
RESULTS—Three independent mutations in theGTP-CH-I gene were found in three patients. One of the patients and herasymptomatic mother were heterozygous for a novel mutation at theinitiation codon. The three patients with dissimilar GTP-CH-I mutationsexhibited similar clinical features. The other five patients withnormal sequences presented several features not manifested by the three patients with the mutations. No mutation was found in the 5' flanking region of any patients or their parents.
CONCLUSIONS—A novel initiation codon mutation wasfound in a Japanese patient with HPD/DRD. The clinical manifestationscommon to the patients with HPD/DRD with a mutated GTP-CH-I gene werealso identified. Although focal manifestations of HPD/DRD associatedwith the mutations of this gene will be broadened, it is inferred thatthese clinical features are fundamental to HPD/DRD caused by mutationsin this gene.
相似文献
52.
Natural interferon enhances expression of placental alkaline phosphatase in human seminoma xenograft
T. Imao K. Koshida H. Konaka T. Uchibayashi K. Yokoyama K. Hirano M. Namiki 《Urological research》1998,26(6):377-382
The purpose of this study was to investigate the effect of natural interferon (IFN) on the expression of placental alkaline
phosphatase (PLAP) in a human seminoma xenograft in severe combined immunodeficient mice. Mice were injected intramuscularly
with 3 × 105 U/mouse of IFN, twice a day, for five consecutive days. A significant increase in PLAP level of the xenografts followed IFN
treatment. A radiolabeled anti-PLAP monoclonal antibody (MAb) was intravenously injected on the first day of IFN administration
in order to determine if IFN has the potential to enhance the efficacy of an anti-PLAP MAb in the detection of seminoma. Enhanced
retention of the anti-PLAP MAb was observed at 7 and 11 days after MAb administration. Thus, IFN treatment appears to have
some effect on the efficacy of the anti-PLAP MAb in the detection of seminoma xenografts.
Received: 26 September 1997 / Accepted: 23 April 1998 相似文献
53.
Kazunari Okada Yang Il Kim Kimihiro Nakashima Izuru Tada Takanori Yoshida Michio Kobayashi Shigeo Yokoyama 《Surgery today》1993,23(7):626-631
A case of small fibrolamellar hepatocellular carcinoma (HCC) coexistent with a HCC of common type is herein reported. A 56-year-old man was diagnosed as having multi-nodular type HCC with liver cirrhosis. The serum alpha-fetoprotein (AFP) level was slightly increased. The patient underwent a partial caudate lobectomy and lateral segmentectomy. Histologically, both resected tumors were small HCCs measuring less than 2 cm in diameter. One was a fibrolamellar type located in the caudate lobe, while the other was the common type in the lateral segment of the liver. Positive immunohistochemical staining for AFP was observed in the tumor cells of the HCC of common type but was not observed in the fibrolamellar HCC. We also reviewed previously reported cases of fibrolamellar HCC in Japan, and discussed the clinicopathologic implications of this disease. 相似文献
54.
We have developed a human friendly reporting and database system for clinical brain PET (Positron Emission Tomography) scans, which enables statistical data analysis on qualitative information obtained from image interpretation. Our system consists of a Brain PET Data (Input) Tool and Report Writing Tool. In the Brain PET Data Tool, findings and interpretations are input by selecting menu icons in a window panel instead of writing a free text. This method of input enables on-line data entry into and update of the database by means of pre-defined consistent words, which facilitates statistical data analysis. The Report Writing Tool generates a one page report of natural English sentences semi-automatically by using the above input information and the patient information obtained from our PET center’s main database. It also has a keyword selection function from the report text so that we can save a set of keywords on the database for further analysis. By means of this system, we can store the data related to patient information and visual interpretation of the PET examination while writing clinical reports in daily work. The database files in our system can be accessed by means of commercially available databases. We have used the 4th Dimension database that runs on a Macintosh computer and analyzed 95 cases ofI8F-FDG brain PET studies. The results showed high specificity of parietal hypometabolism for Alzheimer’s patients. 相似文献
55.
Hiromasa Yanagi Jiro Kondo Keiji Uchida Michio Tobe Shin-ichi Suzuki Yoshimi Yano 《General thoracic and cardiovascular surgery》1998,46(10):1014-1019
We experienced a case with acute mitral regurgitation caused by complete posterior papillary muscle rupture as complication of acute inferior myocardial infarction, who underwent successfully emergency operation of mital valve replacement and coronary revascularization in acute stage. A 64-year-old woman developed sudden cardiogenic shock shortly after the onset of acute inferior myocardial infarction. The diagnosis of acute inferior myocardial infarction was based on the electrocardiographic findings. Under IABP support, preoperative coronary angiography visualized total occlusion of segment 3 of the right coronary artery, and preoperative left ventriculography showed akinesis of inferior wall and severe mitral regurgitation. At 6 hours after onset of papillary muscle rupture, emergency operation was performed. At operation, posterior papillary muscle was found to be totally ruptured. Coronary artery revascularization and mitral valve replacement were performed. Postoperative course was uneventful, with 4 days of IABP and 5 days of ventilatory support. She was discharged on the twentieth postoperative day in NYHA class I. Reports of successful emergency operation for total papillary muscle rupture following acute myocardial infarction are rare. Early diagnosis and surgical treatment are mandatory to save this group of patients. 相似文献
56.
The effect of halothane and enflurane on tracheal tone were studied in 21 patients during the induction of anesthesia. Endotracheal tube cuff pressure was used to measure tracheal tone. Anesthesia, maintained by nitrous oxide 70% in oxygen, was supplimented with succinylcholine drip infusion to immobilize the patient. Ventilation was controlled by a Volume-preset ventilator. In the halothane group, the initial cuff pressure was 14.8 ± 1.3 (mean ± SE) cmH2O but 10min after 0.15mg/kg of pancuronium injection, it increased to 21.7 ± 2.3cmH2O (control). Ten min after inhalation of 0.75% of halothane, cuff pressure decreased to 14.7 ± 2.3cmH2O (34 ± 11% decrease from the control value). In the enflurane group, the initial cuff pressure was 17.6 ± 1.8cmH2O and it increased to 21.0 ± 1.7cmH2O (control) 10min after pancuronium injection. Ten min after 1.7% of enflurane inhalation, cuff pressure decreased to 17.1 ± 2.3cmH2O (23.9 ± 6% decrease from the control value). Halothane and enflurane produced similar tracheal dilatation in healthy individuals.(Yasuda I, Irimada M, Hirano T et al.: Tracheal dilatation by halothane and enflurane in man. J Anesth 2: 46–49, 1988) 相似文献
57.
Cardiovascular depression occuring when diazepam is combined with fentanyl has been investigated using the benzodiazepine antagonist RO15-1788 in the dog.After the initial administration of fentanyl (40mcg/kg), the mean arterial pressure (MAP) decreased to 89% of its control value. Following the administration of diazepam (1.2mg/kg), the MAP and the total peripheral resistance (TPR) decreased significantly, to 75% and 83% of their control values respectively. After the administration of RO15-1788 (0.4mg/kg), the MAP increased significantly to 90% and the TPR to 102% of their control values and, lastly, the administration of naloxone (40mcg/kg) increased the MAP to 108% of its control value. No relationship was found between the changes in the catecholamines and the changes in the MAP after the administration of fentanyl, diazepam, and RO15-1788.The mechanism of circulatory depression when diazepam was used with fentanyl is interpreted as being a peripheral vasodilatory effect of diazepam acting by way of the benzodiazepine receptors since RO15-1788 was found to antagonize this effect.(Sone T, Kato T, Tsukahara I et al.: The effect of RO15-1788 on cardiovascular depression caused by fentanyl and diazepam. J Anesth 2: 69–76, 1988) 相似文献
58.
Direct measurement of L-type Ca2+ window current in heart cells. 总被引:4,自引:0,他引:4
The activation and inactivation relations of several ion channel currents overlap, suggesting the existence of a steady-state or "window" current. We studied L-type Ca2+ channel window current in single cardiac Purkinje cells using a voltage-clamp protocol by which channels were first inactivated nearly completely during a long-duration depolarizing step, and then the recovery of Ca2+ current was observed during repolarizing steps into the L-type Ca2+ window voltage range. With these conditions, a small-amplitude inward Ca2+ current gradually developed after repolarization to voltages within the window but not after steps to voltages positive or negative to it. Window current was suppressed by Cd2+ (50 microM), nifedipine (1 microM), and nicardipine (1 microM), and it was augmented by isoproterenol (5 microM) and Bay K 8644 (1 microM). At voltages at which window current developed, L-type Ca2+ channels also recovered to a closed state from which they could be reopened by an additional depolarizing step. At voltages positive to the window range, channel recovery to a closed state(s) was absent, whereas at voltages negative to the window range, channel recovery to a closed state(s) increased, as expected from the "steady-state" inactivation relation. Our results provide direct measurement of L-type Ca2+ window current and distinguish it from other processes, such as slow inactivation. Our findings support the postulate that within a window there occur channel transitions from inactivated to closed states, and these channels (re)open, and this process may occur repetitively. Some physiological and pathophysiological roles for L-type Ca2+ window current are discussed. 相似文献
59.
S D McCormick S Hasegawa T Hirano 《Proceedings of the National Academy of Sciences of the United States of America》1992,89(8):3635-3638
The skin, particularly the opercular membrane of some teleosts, contains mitochondrion-rich "chloride" cells and has been widely used as a model to study branchial salt-extrusion mechanisms in seawater fish. Skin isolated from the operculum of the freshwater Nile tilapia (Oreochromis niloticus) can transport Ca2+ against an ionic and electrical gradient. Adaptation of Nile tilapia to a low-Ca2+ environment increased the capacity of the opercular membrane to transport Ca2+. The density of mitochondrion-rich cells increased in parallel with Ca2+ transport capacity. The results demonstrate net Ca2+ uptake by vertebrate skin and strongly implicate mitochondrion-rich cells as the site of Ca2+ uptake in fresh water. 相似文献
60.