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A 16-year-old male patient presented with a 3-year history of an enlarging right upper eyelid mass. His condition did not improve, and he complained of double vision on leftward gaze. A fixed, nontender, firm subcutaneous mass was clinically noted, and magnetic resonance imaging confirmed a partially cystic tumor in the right intratemporal and pterygopalatine fossae, which extended into the orbit through the inferior orbital fissure. Mass effects of the tumor and statistical analysis allowed for easy preoperative diagnosis. The tumor was easily removed without any complications by the combined use of coronal incision and lateral orbitotomy. This approach is useful for resection of lateral orbital tumors, including dumbbell-shaped tumors extending intraorbitally. 相似文献
83.
Y Nawata K Hamada H Tajima N Nishino T Nakazawa K Tobayashi S Saitoh 《Nihon Shokakibyo Gakkai zasshi》2012,109(8):1394-1400
An 84-year-old woman with hepatitis C virus-related cirrhosis, hepatocellular carcinoma and atrial fibrillation, who presented with hematemesis, was initially treated with endoscopic variceal ligation (EVL) for an esophageal varix hemorrhage. However, computed tomography (CT) upon admission had revealed portal vein thrombosis, despite having received warfarin for existing atrial fibrillation. We subsequently initiated a 2-week treatment with danaparoid;warfarin being discontinued in order to reduce the risk of re-hemorrhage. A follow-up CT after treatment revealed complete reduction of the portal vein thrombosis. This is the first successful report of danaparoid use in the treatment of portal vein thrombosis that developed in a patient who had received warfarin. 相似文献
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Madoka Mori-Yoshimura Yasushi Oya Yukiko K. Hayashi Satoru Noguchi Ichizo Nishino Miho Murata 《Neuromuscular disorders : NMD》2013,23(1):84-88
GNE myopathy is a rare and mildly progressive autosomal recessive myopathy caused by GNE mutations. Respiratory dysfunction has not been reported in GNE myopathy patients. In this study, we retrospectively reviewed the respiratory function of 39 severely affected GNE myopathy patients (13 men, 26 women) from medical records, and compared these parameters with various other patient characteristics (e.g., GNE mutations, age at onset, creatine kinase levels, and being wheelchair-bound) for correlations. The mean % forced vital capacity [FVC] was 92 (26) (range, 16–128). In 12/39 (31%) patients, %FVC was <80%. Of these 12 patients, 11 (92%) were entirely wheelchair-dependent. These patients exhibited significantly earlier onset (20 [4] vs. 30 [8] years, p < 0.001) and lower creatine kinase levels (56 [71] vs. 279 [185] IU/L) than patients with normal respiratory function. Two patients exhibited severe respiratory failure and required non-invasive positive pressure ventilation. Patients with a homozygous mutation in the N-acetylmannosamine kinase domain exhibited lower %FVC, while only one compound heterozygous patient with separate mutations in the uridinediphosphate-N-acetylglucosamine 2-epimerase and the N-acetylmannosamine kinase domains had respiratory dysfunction. Our results collectively suggest that GNE myopathy can cause severe respiratory failure. Respiratory dysfunction should be carefully monitored in patients with advanced GNE myopathy characterized by early onset and homozygous homozygous mutations in the N-acetylmannosamine kinase domain. 相似文献
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Wen-Chen Liang Yukiko K. Hayashi Megumu Ogawa Chien-Hua Wang Wan-Ting Huang Ichizo Nishino Yuh-Jyh Jong 《Neuromuscular disorders : NMD》2013,23(8):675-681
Alpha-dystroglycanopathy is caused by the glycosylation defects of α-dystroglycan (α-DG). The clinical spectrum ranges from severe congenital muscular dystrophy (CMD) to later-onset limb girdle muscular dystrophy (LGMD). Among all α-dystroglycanopathies, LGMD type 2I caused by FKRP mutations is most commonly seen in Europe but appears to be rare in Asia. We screened uncategorized 40 LGMD and 10 CMD patients by immunohistochemistry for α-DG and found 7 with reduced α-DG immunostaining. Immunoblotting with laminin overlay assay confirmed the impaired glycosylation of α-DG. Among them, five LGMD patients harbored FKRP mutations leading to the diagnosis of LGMD2I. One common mutation, c.948delC, was identified and cardiomyopathy was found to be very common in our cohort. Muscle images showed severe involvement of gluteal muscles and posterior compartment at both thigh and calf levels, which is helpful for the differential diagnosis. Due to the higher frequency of LGMD2I with cardiomyopathy in our series, the early introduction of mutation analysis of FKRP in undiagnosed Taiwanese LGMD patients is highly recommended. 相似文献
89.
Takashi Kurashige Tetsuya Takahashi Yu Yamazaki Yoshito Nagano Keita Kondo Takeshi Nakamura Takemori Yamawaki Rie Tsuburaya Yukiko K. Hayashi Ikuya Nonaka Ichizo Nishino Masayasu Matsumoto 《Neuromuscular disorders : NMD》2013,23(11):911-916
Here we report what is to our knowledge the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. The index case is a 52-year-old man with almost 40 years of progressive proximal muscle weakness. High urinary β2 microglobulin, normal serum β2 microglobulin, autophagic vacuoles with sarcolemmal features, and a hemizygous c.164–7T>G mutation in the VMA21 gene were found. His two maternal uncles had similar clinicopathological findings. High urinary β2 microglobulin without obvious renal dysfunction might result from decreased urine acidification in the distal convoluted tubules caused by the VMA21 gene mutation. These findings might prove to be useful as a preliminary marker suggestive of X-linked myopathy with excessive autophagy. 相似文献
90.
Yokoyama Keitaro Hashimoto Teruo Okuda Yuri Matsumoto Yu Ito Kyoko Yamada Ryoichi Susai Hiroyuki Nishino Noriaki 《Clinical and experimental nephrology》2022,26(7):688-699
Clinical and Experimental Nephrology - Ferric citrate hydrate (FC) is an oral iron-based phosphate binder that is used to treat hyperphosphatemia in patients with chronic kidney disease (CKD). This... 相似文献