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991.
Takeda A Sudo A Yamada M Yamazawa H Izumi G Nishino I Ariga T 《European journal of pediatrics》2011,170(11):1481-1484
Barth syndrome (BTHS) is an X-linked disorder characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy.
It is caused by mutations in the tafazzin gene (TAZ). Although early diagnosis is critical to prevent the progression of heart failure, this disease remains unrecognized when
heart failure is not clinically significant. Here we report on a 13-year-old boy with no family history of BTHS who was diagnosed
with the syndrome in the subclinical stage of heart failure. The clues to the diagnosis of BTHS in this patient were the findings
of lipid storage myopathy in the skeletal muscle biopsy, elevated plasma brain natriuretic peptide, and the diagnosis of isolated
noncompaction of the ventricular myocardium in echocardiography. Genetic studies of TAZ revealed a disease-causing mutation (p.Gly216Arg) in this patient. Physicians should be aware of the possibility of this
disease and carry out genetic studies when it is considered. 相似文献
992.
993.
994.
Kazuhiro Ogi Tetsuji Takabayashi Masafumi Sakashita Dai Susuki Takechiyo Yamada Yasuhiro Manabe Shigeharu Fujieda 《Auris, nasus, larynx》2014
Objective
Asian sand dust (ASD), originating in the deserts of Mongolia and China, spreads over large areas and is associated with adverse effects on human health in East Asia, including asthma, heart disease, and some allergic diseases. However, the effect of ASD on patients with seasonal allergic rhinitis caused by Japanese cedar pollen (SAR-JCP), the most common form of allergic rhinitis, remains unclear. The aim of this study was to investigate the effect of ASD on SAR-JCP patients.Methods
A total of 41 patients with SAR-JCP recorded nasal and ocular allergic symptom scores in a diary. We assessed the influence of ASD events on patients with SAR-JCP during the JCP season and before and after the JCP season.Results
ASD events did not influence nasal and ocular allergy symptoms during the JCP season. Scores for sneezing and runny nose were significantly increased by ASD events in the pre-JCP season. Ocular symptom scores were significantly increased by ASD events in the post-JCP season.Conclusion
Our results suggest that ASD may exacerbate allergy symptoms even before mass scattering of JCP, which usually does not cause allergic symptoms in patients with SAR-JCP. ASD also induced conjunctivitis symptoms after the JCP season. However, we did not observe any adverse effects of ASD on allergic symptoms during the JCP season. 相似文献995.
Kenzo Tsuzuki Yasuyuki Hinohira Hironori Takebayashi Yusuke Kojima Yoriko Yukitatsu Takashi Daimon Masafumi Sakagami 《Auris, nasus, larynx》2014
Objective
To propose a simple post-operative endoscopic scoring system for use after endoscopic sinus surgery (ESS) in patients with chronic rhinosinusitis (CRS), and to demonstrate the usefulness of this approach.Methods
Subjects comprised 116 patients (84 men, 32 women; mean age, 54 years) with CRS who were analyzed endoscopically and radiologically after ESS between 2006 and 2012. The study was designed as a case series with planned data collection in the setting of university medical centers. Patients were followed-up for ≥6 months after ESS (mean, 13.1 months). Both pre- and post-operative computed tomography (CT) findings of each sinus and olfactory cleft (OC) were scored according to the Lund–Mackay scoring system: 0, normal; 1, partially; or 2, completely occupied. CT score represents the total score expressed as a percentage of the maximum possible score (12 points per side). Post-operative endoscopic score (E score, %) was calculated as the maximum score according to physical findings on each operated sinus and OC: 0, normal; 1, partially diseased; or 2, completely closed. Post-operative course using E score was verified by comparison with the Lund–Kennedy (L–K) scoring system.Results
E score was easily and quickly determined. Interclass correlation coefficient among 10 otolaryngologists indicated high-level inter-rater reliability (0.922). E score correlated strongly with both CT score (n = 116, p < 0.0001, rs = 0.755) and L–K score (n = 79, p < 0.0001, rs = 0.723).Conclusion
Endoscopic evaluation using E score for sinuses and OCs after ESS is a useful method, together with L–K score for the nasal cavity and radiological study. 相似文献996.
OBJECTIVE: To examine the clinical findings of acquired bilateral cholesteatoma with special reference to incidence of habitual sniffing and sniff-related negative middle ear pressure. METHODS: Eighty-eight fresh cases of unilateral cholesteatoma and 33 fresh cases of bilateral cholesteatoma, which were operated on at Department of Otolaryngology, Hyogo College of Medicine, were examined in this study. Responses to a detailed questionnaire were obtained from the patients concerning about the habit of habitual sniffing to relieve aural symptoms such as aural fullness, autophonia or hyperacusis. The same questionnaire was obtained from unilateral cholesteatoma patients to compare the incidence of habitual sniffing with that of patients with bilateral cholesteatoma. We measured the negative middle ear pressure at the time of sniffing by using TTAG (tubo-tympano aerodynamic graphy, Nagashima Co. Ltd, Tokyo). We also compared the positive percentage of the sniff test in bilateral cholesteatoma with in unilateral cholesteatoma and normal controls. Sniff test was performed in 30 patients with bilateral cholesteatoma, 20 patients with unilateral cholesteatoma and 20 normal controls. RESULTS: In 33 patients with bilateral cholesteatoma (66 ears), 57 ears had the pars flaccida type (86.4%) and 9 ears had the pars tensa type (13.6%). Cholesteatoma of pars flaccida type were predominant in bilateral cholesteatoma. The rate of habitual sniffing of bilateral cholesteatoma (23/33, 69.7%) was significantly higher than that of unilateral cholesteatoma (21/88, 23.9%). The incidence of positive sniff test in bilateral cholesteatoma (19/30, 63.3%) was significantly higher than in unilateral one (6/20, 30%) and normal control (3/20, 15%). CONCLUSIONS: Habitual sniffing was closely related to the pathogenesis of bilateral cholesteatoma, especially in cases with bilateral pars flaccida type. 相似文献
997.
Tohi Yoichiro Kato Takuma Matsumoto Ryuji Shinohara Nobuo Shiga Kenichiro Yokomizo Akira Nakamura Masaki Kume Haruki Mitsuzuka Koji Sasaki Hiroshi Egawa Shin Matsumura Masafumi Hashine Katsuyoshi Inokuchi Junichi Eto Masatoshi Baba Haruki Ichikawa Tomohiko Kinoshita Hidefumi Matsuda Tadashi Kakehi Yoshiyuki Sugimoto Mikio 《International journal of clinical oncology / Japan Society of Clinical Oncology》2022,27(4):827-827
International Journal of Clinical Oncology - 相似文献
998.
Utsunomiya Masafumi Matsuoka Hirofumi Takenoshita Miho Toyofuku Akira Miura Hiroko Abiko Yoshihiro 《Clinical oral investigations》2022,26(11):6563-6568
Clinical Oral Investigations - Intolerance of uncertainty (IU) is thought to be involved with the psychological factors that influence the symptoms in patients with burning mouth syndrome (BMS) and... 相似文献
999.
Itoda M Saito Y Maekawa K Hichiya H Komamura K Kamakura S Kitakaze M Tomoike H Ueno K Ozawa S Sawada J 《Drug metabolism and pharmacokinetics》2004,19(4):308-312
Twenty genetic variations, including seven novel ones, were found in the human SLC22A1 gene, which encodes organic cation transporter 1, from 116 Japanese individuals. The novel variations were as follows: -94C>A in the 5'-untranslated region (A of the translation start codon is numbered +1 in the cDNA sequence; MPJ6_OC1001), 350C>T (MPJ6_OC1004), IVS1-35T>C (MPJ6_OC1006), 561G>A (MPJ6_OC1010), IVS6+75C>G (MPJ6_OC1014), IVS8+108A>G (MPJ6_OC1017), and 1671_1673delATG (MPJ6_OC1020). The frequencies were 0.082 for IVS1-35T>C, 0.022 for IVS6+75C>G, 0.009 for 561G>A, and 0.004 for the other 4 variations. Among them, 350C>T resulted in the amino acid substitution Pro117Leu, which is located in the large extracellular loop between transmembrane domains 1 and 2. Also, we detected the four previously reported nonsynonymous variations, 123C>G (Phe41Leu), 480C>G (Phe160Leu), 1022C>T (Pro341Leu), and 1222A>G (Met408Val) with frequencies of 0.004, 0.086, 0.168, and 0.810, respectively. 相似文献
1000.
Naoyoshi Nagata Kayo Sakamoto Tomohiro Arai Ryota Niikura Takuro Shimbo Masafumi Shinozaki Tomonori Aoki Yoshihiro Kishida Katsunori Sekine Shohei Tanaka Hidetaka Okubo Kazuhiro Watanabe Toshiyuki Sakurai Chizu Yokoi Junichi Akiyama Mikio Yanase Mitsuhiko Noda Toshiyuki Itoh Masashi Mizokami Naomi Uemura 《International journal of cancer. Journal international du cancer》2014,135(10):2273-2281
We investigated whether visceral adipose tissue (VAT) measured by computed tomography (CT) is a risk factor for colorectal adenoma. For a total of 1,328 patients (857 without adenoma, 471 with colorectal adenoma) undergoing colonoscopy and CT, associations between colorectal adenoma and body mass index (BMI), VAT area and subcutaneous adipose tissue (SAT) were assessed using odds ratios (ORs) with 95% confidence intervals (CIs) adjusted for age, sex, family history, smoking, alcohol intake, diabetes mellitus, aspirin use and nonsteroidal anti‐inflammatory drug use. Multivariate analysis showed that colorectal adenoma was marginally associated (p = 0.06) with BMI, but not with SAT, while it was significantly associated with VAT and the VAT to SAT ratio (VAT/SAT) for both categorical data and trend (p < 0.05). When the obesity indices were considered simultaneously, colorectal adenoma remained significantly associated with VAT and VAT/SAT (p < 0.05), but not BMI and SAT. In patients with colorectal adenoma, the adjusted OR for the highest quartiles of VAT and VAT/SAT was 1.90 (95% CI 1.16–3.13) and 2.25 (95% CI 1.49–3.41), respectively, compared to the lowest quartiles. Only VAT area was significantly associated with colorectal adenoma in both men and women (p < 0.05). Proximal, multiple and advanced adenomas had significantly higher VAT areas (p < 0.05) than distal, solitary and nonadvanced adenomas. Our findings implicate abdominal VAT in the development and progression of colorectal adenoma, and it was better obesity index for colorectal adenoma than BMI in both sexes. 相似文献