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Kenji Yamada Michinori Ito Hironori Kobayashi Yuki Hasegawa Seiji Fukuda Seiji Yamaguchi Takeshi Taketani 《Brain & development》2019,41(7):638-642
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II, is classically caused by a congenital defect in electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH). Flavin adenine dinucleotide synthase (FADS) deficiency caused by mutations in FLAD1 was recently reported as a novel riboflavin metabolism disorder resembling MADD. Here, we describe a Japanese boy with FADS deficiency due to a novel mutation (p.R249*) in FLAD1. In the asymptomatic male infant born at full term, newborn screening showed positive results with elevated C5 and C14:1 acylcarnitine levels and an increased C14:1/C2 ratio. Biochemical studies were unremarkable except for lactic acidosis (pH 7.197, lactate 61 mg/dL). A diagnosis of MADD was suspected because of mild abnormalities of the acylcarnitine profile and apparent abnormalities of urinary organic acids, although mutations in the ETFA, ETFB, ETFDH, and riboflavin transporter genes (SLC52A1, SLC52A2, and SLC52A3) were not detected. Administration of riboflavin and L-carnitine was initiated at one month of age based on the diagnosis of “biochemical MADD” despite a lack of symptoms. Nevertheless, the acylcarnitine profile was not normalized. Symptoms resembling bulbar palsy, such as vocal cord paralysis and dyspnea with stridor, were present from 3 months of age. At 4 months of age, he became bedridden because of hypoxic-ischemic encephalopathy due to fulminant respiratory failure with aspiration pneumonia. At 2 years and 5 months of age, a homozygous c.745C > T (p.R249*) mutation in the FLAD1 gene was identified, confirming the diagnosis of FADS deficiency. His severe clinical course may be caused by this nonsense mutation associated with poor responsiveness to riboflavin. Persistent lactic acidosis and neuropathy, such as bulbar palsy, may be important for diagnosing FADS deficiency. Although the biochemical findings in FADS deficiency are similar to those in MADD, their clinical symptoms and severity may not be identical. 相似文献
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Infantile fibrosarcoma is a very rare soft tissue tumor in infants and children most commonly located in extremities. It constitutes less then 1 percent of all childhood cancers. Prognosis and clinical course of it is relatively good compared to adult forms. Local recurrence is common but metastasis is infrequent.In this case report we present infantile fibrosarcoma with relapse and lung metastasis despite neoadjuvant chemotherapy, pelvic reconstruction surgery with wide surgical excision and adjuvant chemotherapy protocol. The patient was a 2-year-old girl at the time of diagnosis, and there was a huge mass in pelvic region. After neoadjuvant chemotherapy, type 1 pelvic resection and pelvic reconstruction with bone cement performed. The patient presented with relapse and lung metastasis 6 months after the surgery.This is the first report of pelvic infantile fibrosarcoma with pelvic resection surgery. This case suggests that these tumors may exhibit unpredictable clinical behavior. 相似文献
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目的:探讨脾虚湿困型小儿腹泻患儿采用痛泻要方热奄包治疗的临床效果。方法:将2018年3月-2019年3月平度市中医医院收治的88例脾虚湿困型小儿腹泻患儿作为研究样本,遵从随机化原则分成参照组和研究组,参照组(44例)采用常规西医治疗,研究组(44例)采用痛泻要方热奄包治疗。比较两组治疗效果、中医症状积分和不良反应发生率。结果:治疗后,研究组总疗效高于参照组,中医症状积分小于参照组,有明显统计学意义(P <0.05);两组均未出现明显不良反应。结论:痛泻要方热奄包用于脾虚湿困型小儿腹泻患儿临床治疗中效果理想,安全可靠,建议大力推广。 相似文献
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《Actas dermo-sifiliográficas》2020,111(1):59-62
Propranolol, a non-selective beta-blocker, remains the first line of treatment for problematic infantile hemangioma. However, although rarely, a subset of patients experience undesirable side effects, raising interest in other selective beta-blockers. We present a large case series of 46 infants treated successfully with oral atenolol, a selective beta-1 blocker. 相似文献
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ObjectiveTo investigate the molecular cause(s) underlying a severe form of infantile-onset parkinsonism and characterize functionally the identified variants.MethodsA trio-based whole exome sequencing (WES) approach was used to identify the candidate variants underlying the disorder. In silico modeling, and in vitro and in vivo studies were performed to explore the impact of these variants on protein function and relevant cellular processes.ResultsWES analysis identified biallelic variants in WARS2, encoding the mitochondrial tryptophanyl tRNA synthetase (mtTrpRS), a gene whose mutations have recently been associated with multiple neurological phenotypes, including childhood-onset, levodopa-responsive or unresponsive parkinsonism in a few patients. A substantial reduction of mtTrpRS levels in mitochondria and reduced OXPHOS function was demonstrated, supporting their pathogenicity. Based on the infantile-onset and severity of the phenotype, additional variants were considered as possible genetic modifiers. Functional assessment of a selected panel of candidates pointed to a de novo missense mutation in CHRNA6, encoding the α6 subunit of neuronal nicotinic receptors, which are involved in the cholinergic modulation of dopamine release in the striatum, as a second event likely contributing to the phenotype. In silico, in vitro (Xenopus oocytes and GH4C1 cells) and in vivo (C. elegans) analyses demonstrated the disruptive effects of the mutation on acetylcholine receptor structure and function.ConclusionOur findings consolidate the association between biallelic WARS2 mutations and movement disorders, and suggest CHRNA6 as a genetic modifier of the phenotype. 相似文献
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《Clinical neurophysiology》2020,131(5):1087-1098
ObjectiveFunctional connectivity networks (FCNs) based on interictal electroencephalography (EEG) can identify pathological brain networks associated with epilepsy. FCNs are altered by interictal epileptiform discharges (IEDs), but it is unknown whether this is due to the morphology of the IED or the underlying pathological activity. Therefore, we characterized the impact of IEDs on the FCN through simulations and EEG analysis.MethodsWe introduced simulated IEDs to sleep EEG recordings of eight healthy controls and analyzed the effect of IED amplitude and rate on the FCN. We then generated FCNs based on epochs with and without IEDs and compared them to the analogous FCNs from eight subjects with infantile spasms (IS), based on 1340 visually marked IEDs. Differences in network structure and strength were assessed.ResultsIEDs in IS subjects caused increased connectivity strength but no change in network structure. In controls, simulated IEDs with physiological amplitudes and rates did not alter network strength or structure.ConclusionsIncreases in connectivity strength in IS subjects are not artifacts caused by the interictal spike waveform and may be related to the underlying pathophysiology of IS.SignificanceDynamic changes in EEG-based FCNs during IEDs may be valuable for identification of pathological networks associated with epilepsy. 相似文献
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目的培养脊柱及相关疾病推拿治疗的应用型人才。方法采用编写应用型教材、把教室转移到诊室和示教室、教材-案例“逼真”教学法、创造学生在临床真实环境下的动手操作机会和产-学-研相结合教学法等手段和方法,在内容改革上纳入目前医院和社会机构多使用的规划教材之外的手法技术、现代康复技术和世界各地的脊柱手法技术,拓宽知识面,与临床应用接轨;发挥考试的导向功能,通过改革考试和评价方法,切实培养应用型人才。结果教学效果良好,有效提升了学生临床适应能力和社会生存能力。结论以就业为导向的脊柱及相关疾病的推拿教学模式值得进一步探索。 相似文献