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71.
婴儿眼球震颤综合征(infantile nystagmus syndrome,INS)是一种先天性病理性眼球震颤,以双眼非自主性的共轭摆动和反向视动性眼球震颤为特征表现。INS患者可合并弱视、斜视及斜颈等,常有不同程度的视功能障碍。该病病因尚不明确,且无法完全治愈,应尽早对INS进行检查和适当干预。基于国内外对INS的研究成果,本文首先总结了INS目前所知的病因及发生机制; 其次,介绍了INS近年提出的检查方法与治疗方案,总结了相关临床实践中存在的问题,并在此基础上,对未来可能的研究方向给出了建议,旨在为临床应用及未来研究方向提供参考。 相似文献
72.
1 临床资料
患儿女,4岁.因全身皮肤及巩膜进行性黄染15 d,腹痛4d于2010年4月22日入院.患儿4月7日前无明显诱因出现全身皮肤及巩膜黄染,呈进行性加重,伴有小便颜色加深呈浓茶色及全身皮肤瘙痒,无畏寒、发热、恶心、呕吐、腹胀、腹痛等不适.于当地医院输液治疗(具体用药不详),患儿症状无明显缓解.4月18日患儿出现腹部隐痛,伴有腹胀、厌油、恶心、呕吐,为求进一步诊断和治疗收入我科.入院体格检查:患儿发育正常,营养中等,全身皮肤及巩膜中度黄染.腹部稍膨隆,腹软,右季肋区深压痛,无反跳痛及肌紧张.右肋缘下约3 cm可触及肝脏,表面光滑,右季肋区可同时扪及肿大胆囊,张力高,余腹未扪及明显包块. 相似文献
73.
74.
Jan Erik Madsen Mika Hukkanen Per Aspenberg Julia Polak Lars Nordsletten 《Acta orthopaedica》2013,84(1):74-79
We studied time-dependent ingrowth of sensory nerve fibers into a bone defect in a rat bone conduction chamber model. In 10 male Sprague Dawley rats, a titanium chamber was implanted bilaterally in the proximal tibiae, representing an experimental bone defect. To mimic a clinical situation, the chambers were filled with a fresh blood clot. After 1, 2, 4, 6 and 8 weeks, 2 rats were fixed in vivo at each time before removal of specimens, and histological and immunohistochemical analyses. We used antisera against protein gene product 9.5, neural growth-associated protein 43/B-50, calcitonin gene-related peptide, and substance P, to locate regenerating sensory nerve fibers in the chamber. During bone defect healing, hematoxylin/eosin sections showed that new bone grew in through the ingrowth openings in the chamber, gradually filling it and replacing the blood clot. At 1 and 2 weeks after implantation, no nerve fibers could be detected. At 4, 6 and 8 weeks, however, small numbers of nerve fibers were seen in 8 of 11 specimens. The nerve fibers were located mainly in the dense fibrous tissue in close proximity to the new bone, and in some cases within the new forming bone. In this chamber model, the periosteum is not in contact with the bone ingrowth openings, and all ingrowing nerve fibers thus originated from the cortical bone, endosteum or bone marrow. We speculated that these late ingrowing sensory nerve fibers may actively participate in bone repair. 相似文献
75.
Atsushi Ishii Sawa Yasumoto Yukiko Ihara Takahito Inoue Takako Fujita Noriko Nakamura Masaharu Ohfu Yushiro Yamashita Hideo Takatsuka Toshiaki Taga Rie Miyata Masahiro Ito Hiroshi Tsuchiya Taro Matsuoka Tetsuya Kitao Kiyotaka Murakami Wang-Tso Lee Sunao Kaneko Shinichi Hirose 《Brain & development》2013
Purpose: PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE). The aim of this study was to identify PRRT2 mutations in infantile convulsions in Asian families with BFIE and ICCA, CwG and BFNE. Methods: We recruited 26 unrelated Japanese affected with either BFIE or non-familial benign infantile seizures and their families, including three families with ICCA. A total of 17 Japanese and Taiwanese with CwG, 50 Japanese with BFNE and 96 healthy volunteers were also recruited. Mutations of PRRT2 were sought using direct sequencing. Results: Heterozygous truncation mutation (c.649dupC) was identified in 15 of 26 individuals with benign infantile epilepsy (52.1%). All three families of ICCA harbored the same mutation (100%). Another novel mutation (c.1012+2dupT) was found in the proband of a family with BFIE. However, no PRRT2 mutation was found in either CwG or BFNE. Conclusions: The results confirm that c.649dupC, a truncating mutation of PRRT2, is a hotspot mutation resulting in BFIE or ICCA regardless of the ethnic background. In contrast, PRRT2 mutations do not seem to be associated with CwG or BFNE. Screening for PRRT2 mutation might be useful in early-stage differentiation of BFIE from CwG. 相似文献
76.
Ben Kang Dong Hyun Kim Young Jin Hong Byong Kwan Son Dong Wook Kim Young Se Kwon 《Seizure》2013,22(7):560-564
PurposeWe aimed on identifying the differences of febrile and afebrile seizures associated with mild rotavirus gastroenteritis (RVGE) in the pediatric population.MethodMedical charts of pediatric patients who had been admitted between July 1999 and June 2011 due to RVGE were retrospectively reviewed. Subjects were ultimately divided into three groups; ‘no seizure’ (NS: patients without seizure), ‘febrile seizure’ (FS: patients with fever during seizure), ‘afebrile seizure’ (AFS: patients without fever during seizure). Comparisons between groups were carried out on demographic and clinical characteristics, laboratory test results, electroencephalogram findings, brain magnetic resonance imaging findings, antiepileptic treatment, and prognosis.ResultsAmong the 755 subjects who had been admitted due to mild rotavirus enteritis, 696 (90.3%) did not have any seizures, 17 (2.2%) had febrile seizures, 42 (5.5%) had afebrile seizures. The duration of gastrointestinal symptoms before the onset of seizures were significantly shorter in the FS group compared to the AFS group (1.3 ± 0.8 vs. 2.8 ± 1.0 days; p < 0.0001). A single seizure attack was significantly higher in the AFS group (3.0 ± 1.6 vs. 1.7 ± 1.0 episodes; p = 0.0003), and the frequency of seizures that were of focal type with or without secondary generalization were significantly higher in the AFS group (33.3% vs. 6.0%; p = 0.0139). All patients among the FS and AFS group had not received further antiepileptic treatment after discharge, and none developed epilepsy during follow up period.ConclusionDespite some differences in seizure characteristics, both febrile and afebrile seizures associated with mild RVGE were mostly benign with a favorable prognosis. 相似文献
77.
目的探讨双歧杆菌三联活菌散联合醒脾养儿颗粒治疗婴幼儿肺炎继发性腹泻的临床疗效。方法选取淮安市淮安医院2015年1月—2017年1月收治的婴幼儿肺炎继发性腹泻患儿108例,随机分成对照组(54例)与治疗组(54例)。对照组患儿口服醒脾养儿颗粒,0~1岁1 g/次,2次/d;1~2岁2 g/次,2次/d;2~3岁4 g/次,2次/d。治疗组在对照组基础上口服双歧杆菌三联活菌散,0~1岁0.5 g/次,3次/d;1~3岁1 g/次,3次/d。两组患儿均连续治疗7 d。评价两组患儿临床疗效,同时比较治疗前后两组患儿症状体征消失时间和大便次数。结果治疗后,对照组患儿总有效率为75.93%,显著低于治疗组的90.74%,两组比较差异具有统计学意义(P0.05)。治疗组循环不良、呕吐和腹泻消失时间比对照组显著缩短,两组比较差异具有统计学意义(P0.05)。在第3、5、7天治疗组大便次数显著少于对照组,两组比较差异具有统计学意义(P0.05)。结论双歧杆菌三联活菌散联合醒脾养儿颗粒治疗婴幼儿肺炎继发性腹泻可有效缓解临床症状体征、提高临床疗效,且安全性高,具有一定的临床推广应用价值。 相似文献
78.
Infantile Fibrosarcoma With NTRK3–ETV6 Fusion Successfully Treated With the Tropomyosin‐Related Kinase Inhibitor LOXO‐101 下载免费PDF全文
Ramamoorthy Nagasubramanian MD Julie Wei MD Paul Gordon MD Jeff C. Rastatter MD Michael C. Cox Pharm.D. MHSc Alberto Pappo MD 《Pediatric blood & cancer》2016,63(8):1468-1470
Infantile fibrosarcoma (IFS) is a rare pediatric cancer typically presenting in the first 2 years of life. Surgical resection is usually curative and chemotherapy is active against gross residual disease. However, when recurrences occur, therapeutic options are limited. We report a case of refractory IFS with constitutive activation of the tropomyosin‐related kinase (TRK) signaling pathway from an ETS variant gene 6–neurotrophin 3 receptor gene (ETV6–NTRK3) gene fusion. The patient enrolled in a pediatric Phase 1 trial of LOXO‐101, an experimental, highly selective inhibitor of TRK. The patient experienced a rapid, radiographic response, demonstrating the potential for LOXO‐101 to provide benefit for IFS harboring NTRK gene fusions. 相似文献
79.
V. Papa B. Romanin R. Bergamaschi D. M. Cordelli R. Costa L. Badiali De Giorgi 《Ultrastructural pathology》2016,40(2):83-85
Juvenile dermatomyositis (JDM), an autoimmune idiopathic myositis, is characterized by rash and proximal muscle weakness. Immunohistopathology typically shows perivascular inflammatory infiltrate with predominance of CD4+ T lymphocytes, perifascicular atrophy, and upregulation of major histocompatibility complex class I. JDM has been attributed to a humoral-driven muscle microangiopathy probably implicating the type I interferon pathway. Tubulo-reticular inclusions present in endothelial cell of muscle are biomarkers of interferon exposure, and so may be an indirect data of this myopathy especially in the absence of rash and inflammatory infiltrate. We report on three patients in which electron microscopy solves the differential diagnosis among infantile myositis showing peculiar inclusions. 相似文献
80.
基于文献研究的小儿反复呼吸道感染常见证素与症状相关性分析 总被引:1,自引:0,他引:1
目的:探讨小儿反复呼吸道感染中证素与症状之间的相关性。方法在对近20年小儿反复呼吸道感染文献资料进行全面检索的基础上,筛选符合纳入标准的文献,规范证候、症状名称,提取病位、病性证素,对其进行统计,并运用秩和检验分析检出率在5%以上的常见证素和症状之间的相关性。结果经初步规范化后,获取病位证素10个,病性证素11个,常见证素与症状之间存在一定相关性。结论通过文献研究,初步确定小儿反复呼吸道感染常见证素与症状之间的对应关系,可为本病的临床辨证和科学研究提供一定的参考。 相似文献