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71.
Detectionofpre-CregionmutantsofhepatitisBvirusfromHBeAgnegativepatientsinXi'anareaofChinaHanJie(韩捷);YanYan(阎岩);DingZhenruo(丁振... 相似文献
72.
使用赤灵芝的水提取液、乙醇(30%)提取液进行鼠伤寒沙门氏菌回复、小鼠骨髓多染红细胞微核和雄小鼠精子畸变等三种致突变试验。剂量为1000μg.皿^-1和5000μg/皿^-1的鼠伤寒沙门氏菌回复试验的结果为阴性。小鼠在服用7500mg.kg^-1的水提取液或2500mg.kg^-1的醇提取液时,微核试验和精子畸变试验结果均为阴性。 相似文献
73.
T K Al-Hussaini D M Abd el-Aal I B Van den Veyver 《International journal of gynaecology and obstetrics》2003,83(2):179-186
OBJECTIVES: To present a series of women with recurrent molar pregnancies, including rare familial cases, and discuss etiology and treatment options. METHODS: We performed a detailed clinical evaluation and pedigree analysis of five Egyptian women with recurrent pregnancy loss due to molar pregnancy. RESULTS: The women had a history of four to nine consecutive hydatidiform moles but of no viable pregnancies. Two of the women had molar pregnancies with different husbands who themselves had viable offspring from previous wives; and three of them, who belonged to a family with extensive intermarriage, had a pedigree consistent with an autosomal recessive maternal-effect mutation. CONCLUSIONS: Recurrent pregnancy loss due to habitual molar pregnancy is uncommon and familial cases are extremely rare. The etiology of this disorder is not well understood but likely results from a maternal-effect mutation. Management options are limited, especially for couples who desire to have their own genetic offspring. 相似文献
74.
Jerzy Slowinski Jake Dominik Ryan J. Uitti Zeshan Ahmed Dennis D. Dickson Zbigniew K. Wszolek 《Neuropathology》2007,27(1):73-80
We present a case of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) harboring the N279K mutation in the MAPT gene from the family known as pallido‐ponto‐nigral degeneration (PPND). This 49‐year‐old man was followed for 17 years. He presented at age 41 years with left leg stiffness and en‐bloc turning. During the course of his illness he developed a constellation of symptoms including parkinsonism, pyramidal signs, vertical gaze palsy, dysphagia, dystonia, personality and cognitive dysfunction, weight loss and mutism. Gross neuropathological examination showed mild atrophy of the cerebral cortex, hippocampal formation, amygdala, thalamus, subthalamic nucleus and depigmentation of the substantia nigra. Microscopy revealed neuronal loss and gliosis in the same regions. Tau immunohistochemistry showed pretangles, numerous threads, grain‐like structures and oligodendroglial tau‐positive inclusions (“coiled bodies”). In the spinal cord the tau pathology was more abundant in gray than white matter. Pretangles and threads were present in the anterior and, to a lesser extent, in the posterior horns. FTDP‐17 should be suspected in patients with a history of familial parkinsonism combined with behavioral and cognitive changes, onset before age 65 years and an aggressive clinical course. 相似文献
75.
对兽疫链球菌NUF-035进行紫外诱变,得到突变菌株NUF-036,使透明质酸的产量从1.8 g/L提高到3.0 g/L,相对分子质量从2.1×10~6提高到3.2×10~6,突变株经多次传代,透明质酸产量及相对分子质量保持稳定. 相似文献
76.
基因定量检测已经成为研究基因组变异以及由于基因重组所引起的相关疾病的重要手段。大片段的基因组的重复和缺失可以引起致病突变。使用PCR和测序等定性检测方法很难探测到杂合状态的缺失和重复,因此探寻高效、可靠、灵敏的基因定量检测方法是当务之急。在过去的几年中已经相继出现了一些自动高效的技术方法。现在可用的基因定量方法大致可以分成3类:DNA印迹技术,细胞遗传学方法和以PCR扩增为基础的定量。本文对基因定量的最新进展作一综述,探讨其优缺点以期对定量研究方法的选择有所帮助。 相似文献
77.
应用聚合酶链反应(PCR)方法扩增苯丙氨酸羟化酶(PAH)基因的每个外显子及其侧翼的内含子,并克隆到M 13载体中进行序列分析。发现中国人苯丙酮尿症(Phenylketonuria,PKU)患者的PAH基因外显子3中有1个Arg~(111)→Ter~(111)的点突变,此突变与东方人最常见的突变单体型4呈连锁不平衡。此突变占中国人PAH等位基因的10%左右,但不存在于高加索人群中,表明在种族分化过程中PAH基因位点发生了互不相关的突变事件。 相似文献
78.
目的:探讨聚合酶链反应-单链构象多态性分析(polymerase chain reaction-single strand conformation polymorphism,PCR-SSCP)在家族性高胆固醇血症(familial hypercholesterolemia,FH)研究中的应用价值。方法:提取FH患者外周血基因组DNA,进行PCR-SSCP及DNA序列分析。结果:对1家2例临床诊断为FH的患儿及其父母从基因水平明确了诊断。LDL受体基因突变是位于第6外显子的移框突变,结论:PCR-SSCCP可以从基因水平对FH患者明确诊断,并可对先证者家族系成员早期诊断,以便提供咨询和指导。 相似文献
79.
Wang Tao Liang Zhihou Sun Shenggang Cao Xuebing Peng Hai Cao Fei Liu Hongjin Tong E-tang 《华中科技大学学报(医学英德文版)》2003,23(2):145-147
Summary To investigate the distribution of possible novel mutations from parkin gene in variant subset of patients with Parkinson’s
disease (PD) in China and explore whether parkin gene plays an important role in the pathogenesis of PD, 70 patients were
divided into early-onset group and late-onset group; 70 healthy subjects were included as controls. Genomic DNA from 70 normal
controls and from those of PD patients were extracted from peripheral blood leukocytes by using standard procedures. Mutations
of parkin gene (exon 1–12) in all the subjects were screened by PCR-single strand conformation polymorphism (SSCP), and further
sequencing was performed in the samples with abnormal SSCP results, in order to confirm the mutation and its location. A new
missense mutation Gly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 patients were
found. All the DNA variants were sourced from the samples of the patients with early-onset PD. It was concluded that Parkin
point mutation also partially contributes to the development of early-onset Parkinson’s disease in Chinese.
WANG Tao, male, born in 1961, Associate Professor
This work was supported by grants from the key program of the special scientific project of Scientific & Technologic Agency
of Hubei Province (Serial No. 2001AA308B01) and the Hygienic Research Project of Hygienic Agency of Hubei province (Serial
No. WJ 01529). 相似文献
80.
目的:探讨HBcAg显性失活突变体质粒pCDNA4-C-GFP的构建及体外表达。方法:选择编码乙肝核心抗原C基因片段及绿色荧光蛋白(green fluorescent protein,GFP)基因片段,利用基因重组技术构建成DNA质粒pCDNA4-C-GFP,并将该质粒转染肝癌细胞株HepG2。结果:通过RT-PCR检测到其RNA的表达,Confocal观察到GFP绿色荧光。结论:HBcAg显性失活突变体质粒pCDNA4-C-GFP的构建成功可以进行对HBV作用的研究。 相似文献