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A 12-year-old girl with a history of fast myopia progression underwent advanced orthokeratology (ortho-k) treatment and suffered from recurrent lens binding and central corneal staining. The problem could not be fixed by lens fenestration and refitting with a less aggressive lens (three-zone ortho-k) design. After refitting with a lower target advanced ortho-k lens, these complications were no longer occurring, and the amount of power reduction was greater than expected considering the target designed for the refitted lenses. During the following 15 months of ortho-k lens wear, there was no clinically significant change to her refractive error. The patient and her parents were happy with the outcome, although the refractive error was not totally eliminated and she still needed to wear spectacles for clear vision. Possible etiologies of the complications are discussed. 相似文献
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T Osanai A Konta D Chui T Kanazawa K Onodera T Kogawa 《Archives of pathology & laboratory medicine》1990,114(8):829-831
The ultrastructural characteristics of a benign adrenal adenoma that produces deoxycorticosterone and 11-deoxycortisol were examined by transmission electron microscopy. Both large, round mitochondria with a few cristae in the peripheral portion and spherical or oval mitochondria with sacrotubular cristae were observed in adenoma cells. The development of agranular or granular endoplasmic reticulum varied from cell to cell. In some cells, many vacuoles and collagenous fibers were also seen. Thus, the adrenal tumor we examined was composed of the cells derived from the fascicular zone, which are associated with Cushing's syndrome, and the cells of the glomerular zone observed in association with primary aldosteronism. 相似文献
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Richard D. W. Hain David Chitayat Robert Cooper Elizabeth Bandler Barry Eng David H. K. Chui John S. Waye Melvin H. Freedman 《Human mutation》1994,3(3):239-242
We describe a normal neonate who presented at four days of age with asymptomatic cyanosis. There was no evidence of cardiac or pulmonary abnormality and an extended family history included 13 other affected family members with asymptomatic cyanosis lasting one to three months. Polymerase chain reaction (PCR) amplification and direct nucleotide sequencing of the proband's Gγ chain gene revealed the mutation at codon 92 (CAC→TAC) previously shown in haemoglobin FM-Fort Ripley (α2γ2Gγ 92 (F8) His→Tyr). This is the first family with Hb FM-Fort Ripley reported so far. It demonstrates autosomal dominant inheritance of this condition and incomplete penetrance. © 1994 Wiley-Liss, Inc. 相似文献
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Comparison of haemoglobin H inclusion bodies with embryonic zeta globin in screening for alpha thalassaemia. 总被引:1,自引:1,他引:1 下载免费PDF全文
AIMS--To compare the haemoglobin (Hb) H inclusion test with immunocytochemical detection of embryonic zeta chains in screening for alpha thalassaemia. METHODS--Blood samples from 115 patients with relevant clinical history and hypochromic microcytic indexes were screened using the HbH inclusion test and the Variant Hemoglobin Testing System (BioRad, Hercules, CA, USA). RESULTS--The HbH inclusion test was positive in 61 of 115 cases, three of whom had HbH disease confirmed by electrophoresis. The remaining 58 had alpha thalassaemia 1. All three HbH cases and 56 of 58 cases of alpha thalassaemia 1 expressed embryonic zeta chains, giving a specificity of 96.7%. Fifty four of 115 cases had a negative HbH inclusion test, of whom 50 had beta thalassaemia trait and three had iron deficiency. No diagnosis was reached for the remaining patient. CONCLUSION--The immunocytochemical test is as sensitive as the HbH inclusion test in screening for alpha thalassaemia. The presence of zeta chains is highly specific for alpha thalassaemia 1 incorporating the (--/SEA) deletion. The specificity and simplicity of the immunocytochemical test make it the test of choice in screening for alpha thalassaemia. 相似文献
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脑星形细胞瘤中神经细胞黏附分子与PCNA的表达及其关系 总被引:3,自引:0,他引:3
目的 :研究人脑星形细胞瘤中神经细胞黏附分子 (neuralcelladhesionmolecule ,NCAM)的表达情况及其与肿瘤增殖活性 (PCNA)的相关性。方法 :收集人脑星形细胞瘤标本 48例 ,行SP法染色。结果 :正常脑组织NCAM全部表达 ,星形细胞瘤中I~II级、III级、IV级组阳性表达率分别为 95 % (1 9/ 2 0 ) ,3 8 9% (7/ 1 8)和 2 0 % (2 / 1 0 ) ,阳性细胞表达程度随肿瘤恶性程度的增高反而降低。其表达程度与PCNA免疫反应分数 (IRS)呈负相关 (r =- 0 .6 5 7,P <0 .0 5 )。结论 :随人脑星形细胞瘤恶性程度的增高 ,NCAM表达下调 ,提示NCAM表达减少参与肿瘤的生物恶性发展。 相似文献
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Carlos R Ferreira Dillon Kavanagh Ralf Oheim Kristin Zimmerman Julian Stürznickel Xiaofeng Li Paul Stabach R Luke Rettig Logan Calderone Colin MacKichan Aaron Wang Hunter A Hutchinson Tracy Nelson Steven M Tommasini Simon von Kroge Imke AK Fiedler Ethan R Lester Gilbert W Moeckel Björn Busse Thorsten Schinke Thomas O Carpenter Michael A Levine Mark C Horowitz Demetrios T Braddock 《Journal of bone and mineral research》2021,36(5):942-955
Inactivating mutations in human ecto-nucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) may result in early-onset osteoporosis (EOOP) in haploinsufficiency and autosomal recessive hypophosphatemic rickets (ARHR2) in homozygous deficiency. ARHR2 patients are frequently treated with phosphate supplementation to ameliorate the rachitic phenotype, but elevating plasma phosphorus concentrations in ARHR2 patients may increase the risk of ectopic calcification without increasing bone mass. To assess the risks and efficacy of conventional ARHR2 therapy, we performed comprehensive evaluations of ARHR2 patients at two academic medical centers and compared their skeletal and renal phenotypes with ENPP1-deficient Enpp1asj/asj mice on an acceleration diet containing high phosphate treated with recombinant murine Enpp1-Fc. ARHR2 patients treated with conventional therapy demonstrated improvements in rickets, but all adults and one adolescent analyzed continued to exhibit low bone mineral density (BMD). In addition, conventional therapy was associated with the development of medullary nephrocalcinosis in half of the treated patients. Similar to Enpp1asj/asj mice on normal chow and to patients with mono- and biallelic ENPP1 mutations, 5-week-old Enpp1asj/asj mice on the high-phosphate diet exhibited lower trabecular bone mass, reduced cortical bone mass, and greater bone fragility. Treating the Enpp1asj/asj mice with recombinant Enpp1-Fc protein between weeks 2 and 5 normalized trabecular bone mass, normalized or improved bone biomechanical properties, and prevented the development of nephrocalcinosis and renal failure. The data suggest that conventional ARHR2 therapy does not address low BMD inherent in ENPP1 deficiency, and that ENPP1 enzyme replacement may be effective for correcting low bone mass in ARHR2 patients without increasing the risk of nephrocalcinosis. © 2021 American Society for Bone and Mineral Research (ASBMR). 相似文献
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目的 探究云南重楼Paris polyphylla var.yunnanensis(滇重楼)根茎中甾体皂苷活性成分和生物量积累随生长年限的变化状况,以期为滇重楼的质量控制提供科学依据。方法 以7、8、9、11、12、13、14、15年生滇重楼为研究对象,采用HPLC法和直接称重法测定不同年限滇重楼根茎中8种甾体皂苷(重楼皂苷Ⅰ、Ⅱ、Ⅵ、Ⅶ、Ⅲ、H、V和纤细薯蓣皂苷)含量和生物量。结果 8种甾体皂苷活性成分线性关系良好(R2≥0.999 5),精密度、重复性、稳定性和加样回收率的RSD值均小于3%,验证了该方法的可行性;随着年限的增长,滇重楼根茎生物量呈逐渐增长的趋势,其生长发育可分为增长缓慢期(第1~4年)、增长快速期(第5~10年)和增长平缓期(第11年后)3个阶段,其中7年生滇重楼根茎生物量增长最快,平均年增长量达(31.843±14.225)g;滇重楼根茎中8种甾体皂苷成分含量在不同生长年限的变化呈随机波动、无规律,《中国药典》2020版规定的3个指标成分重楼皂苷Ⅰ、Ⅱ、Ⅶ含量之和与8种甾体皂苷总和的变化趋势一致;用4个主成分对不同年限滇重楼药材进行综合评价,结果显示7年生样品在所有样品中的综合得分位于前7名。结论 建立了同时测定滇重楼中8种甾体皂苷活性成分含量的方法,可用于滇重楼的质量评价;滇重楼并非种植年限越长越好,建议以7年生滇重楼采收入药为最佳。 相似文献