全文获取类型
收费全文 | 264134篇 |
免费 | 20062篇 |
国内免费 | 8210篇 |
专业分类
耳鼻咽喉 | 1587篇 |
儿科学 | 10186篇 |
妇产科学 | 2320篇 |
基础医学 | 23117篇 |
口腔科学 | 3731篇 |
临床医学 | 28868篇 |
内科学 | 68326篇 |
皮肤病学 | 2866篇 |
神经病学 | 27151篇 |
特种医学 | 7756篇 |
外国民族医学 | 4篇 |
外科学 | 21702篇 |
综合类 | 36805篇 |
现状与发展 | 32篇 |
一般理论 | 11篇 |
预防医学 | 20136篇 |
眼科学 | 2710篇 |
药学 | 19062篇 |
212篇 | |
中国医学 | 11924篇 |
肿瘤学 | 3900篇 |
出版年
2024年 | 784篇 |
2023年 | 5262篇 |
2022年 | 9463篇 |
2021年 | 13375篇 |
2020年 | 12674篇 |
2019年 | 9888篇 |
2018年 | 9723篇 |
2017年 | 9561篇 |
2016年 | 9808篇 |
2015年 | 9577篇 |
2014年 | 18255篇 |
2013年 | 19832篇 |
2012年 | 14883篇 |
2011年 | 16279篇 |
2010年 | 12830篇 |
2009年 | 12421篇 |
2008年 | 12410篇 |
2007年 | 12232篇 |
2006年 | 10799篇 |
2005年 | 9161篇 |
2004年 | 7707篇 |
2003年 | 6729篇 |
2002年 | 5688篇 |
2001年 | 5051篇 |
2000年 | 4159篇 |
1999年 | 3718篇 |
1998年 | 3433篇 |
1997年 | 3080篇 |
1996年 | 2718篇 |
1995年 | 2437篇 |
1994年 | 2271篇 |
1993年 | 1929篇 |
1992年 | 1839篇 |
1991年 | 1633篇 |
1990年 | 1307篇 |
1989年 | 1145篇 |
1988年 | 1057篇 |
1987年 | 977篇 |
1986年 | 840篇 |
1985年 | 1000篇 |
1984年 | 861篇 |
1983年 | 500篇 |
1982年 | 622篇 |
1981年 | 543篇 |
1980年 | 428篇 |
1979年 | 352篇 |
1978年 | 295篇 |
1977年 | 264篇 |
1976年 | 210篇 |
1975年 | 99篇 |
排序方式: 共有10000条查询结果,搜索用时 15 毫秒
991.
992.
Seema R. Lalani 《American journal of medical genetics. Part C, Seminars in medical genetics》2020,184(1):107-115
Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations. 相似文献
993.
Youn Kyung Kee Sang Youb Han Duk-Hee Kang Jung Woo Noh Kyung Hwan Jeong Gheun-Ho Kim Yang Wook Kim Beom Seok Kim 《Yonsei medical journal》2021,62(1):41
PurposeOral adsorbents delay disease progression and improve uremic symptoms in patients with chronic kidney disease (CKD). DW-7202 is a newly developed oral adsorbent with high adsorptive selectivity for uremic toxins. We evaluated patient preference for and adherence to DW-7202 versus AST-120 therapy and compared treatment efficacy and safety in patients with pre-dialysis CKD.Materials and MethodsA seven-center, randomized, open-label, two-way crossover, active-controlled, phase IV clinical trial was conducted. Patients with stable CKD were randomly assigned to receive DW-7202 (capsule type) or AST-120 (granule type) for 12 weeks. The groups then switched to the other adsorbent and took it for the next 12 weeks. Patient preference was the primary outcome. Secondary outcomes included changes in estimated glomerular filtration rate (eGFR) and serum creatinine, cystatin C, and indoxyl sulfate (IS) levels.ResultsSignificantly more patients preferred DW-7202 than AST-120 (p<0.001). Patient adherence improved after switching from AST-120 to DW-7202; there was no apparent change in adherence after switching from DW-7202 to AST-120. Changes in eGFR and serum creatinine, cystatin C, and IS levels were not significantly different according to adsorbent type. There was also no significant difference in the incidences of adverse events during treatment with DW-7202 and AST-120.ConclusionDW-7202 can be considered as an alternative to AST-120 in patients who cannot tolerate or show poor adherence to granule type adsorbents. Further studies to evaluate factors affecting patient preferences and improved adherence are warranted (Clinical trial registration No. ). NCT02681952相似文献
994.
Danielle K. Bourque Inara Chacon Fonseca Andrea Staines Ronni Teitelbaum Michelle M. Axford Rebekah Jobling David Chiasson David Chitayat 《American journal of medical genetics. Part A》2019,179(7):1325-1329
Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare, autosomal dominant disorder of interstitial lung development, leading to pulmonary hypertension, and death in infancy. Associated features include malformations of the heart, gastrointestinal tract, and genitourinary system. ACDMPV is caused by heterozygous variants in the FOXF1 gene or microdeletions involving FOXF1. We present a male infant with ACDMPV, hypoplastic left heart sequence (HLHS), duodenal atresia, and imperforate anus due to a de novo, in frame deletion in FOXF1: c.209_214del (p.Thr70_Leu71del). Previous reports have suggested that microdeletions involving FOXF1 are associated with ACDMPV with congenital heart defects, including HLHS, gastrointestinal atresias, and other anomalies; whereas likely pathogenic variants within FOXF1 have not been reported with ACDMPV and HLHS. This is the first patient reported with ACDMPV, HLHS, imperforate anus, and duodenal atresia associated with a likely pathogenic variant in the FOXF1 gene. 相似文献
995.
Alberto Utrero-Rico Javier Ruiz-Hornillos Cecilia González-Cuadrado Claudia Geraldine Rita Berta Almoguera Pablo Minguez Antonio Herrero-González Mario Fernández-Ruiz Octavio Carretero Juan Carlos Taracido-Fernández Rosario López-Rodriguez Marta Corton José María Aguado Luisa María Villar Carmen Ayuso-García Estela Paz-Artal Rocio Laguna-Goya 《The Journal of allergy and clinical immunology》2021,147(5):1652-1661.e1
996.
Joshua K. Meisner Donna M. Martin 《American journal of medical genetics. Part C, Seminars in medical genetics》2020,184(1):81-89
CHARGE syndrome is characterized by a pattern of congenital anomalies (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital abnormalities, and Ear abnormalities). De novo mutations of chromodomain helicase DNA binding protein 7 (CHD7) are the primary cause of CHARGE syndrome. The clinical phenotype is highly variable including a wide spectrum of congenital heart defects. Here, we review the range of congenital heart defects and the molecular effects of CHD7 on cardiovascular development that lead to an over‐representation of atrioventricular septal, conotruncal, and aortic arch defects in CHARGE syndrome. Further, we review the overlap of cardiovascular and noncardiovascular comorbidities present in CHARGE and their impact on the peri‐operative morbidity and mortality in individuals with CHARGE syndrome. 相似文献
997.
L. A. Kopteva L. I. Zhevalyukova V. I. Biryuzova 《Bulletin of experimental biology and medicine》1978,86(3):1160-1163
Acute cardiac ischemia caused by ligation of the descending branch of the left coronary artery leads to a sharp increase in the activity of the protein-synthesizing system of the inner mitochondrial membranes of the myocardium throughout the period of organization of the experimental infarct, as reflected in an incease in the synthesis of protein and RNA in the mitochondria. During development of the infarct considerable changes are observed in the ultrastructure of the inner mitochondrial membranes of the myocardium, the degree of which is directly dependent on the stage of development of the pathological process.Institute of General Pathology and Pathophysiology, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR A. N. Chernukh.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 86, No. 9, pp. 295–297, September, 1978. 相似文献
998.
Seeliger F Drögemüller C Tegtmeier P Baumgärtner W Distl O Leeb T 《Journal of comparative pathology》2005,132(4):346-349
A 2-year-old German Holstein bull was identified as a carrier of a mutation within the X-chromosomal ED1 gene, which encodes a TNF-related signalling molecule mainly involved in ectodermal development. The clinicopathological appearance was associated with hypotrichosis, hypodontia, and a reduced number of eccrine glands, in addition to chronic rhinotracheitis and partial squamous metaplasia. Furthermore, for the first time in an ED1-deficient animal, a complete lack of respiratory mucous glands was observed. This suggests that the ED1 gene plays a role in the development of mucous glands, the absence of which resembles a feature of X-linked anhidrotic ectodermal dysplasia (ED1) in human patients. 相似文献
999.
Kaindl AM Jakubiczka S Lücke T Bartsch O Weis J Stoltenburg-Didinger G Aksu F Oexle K Koehler K Huebner A 《Human mutation》2005,26(3):279-280
Microdeletion syndromes are commonly transmitted as dominant traits and are frequently associated with variably expressed pleiotropic phenotypes. Nonlethal homozygous microdeletions, on the other hand, are very rare. Here, we delineate the fifth and so far largest homozygous microdeletion in nonmalignancies of approximately 400 kb on chromosome 4q11-q12 in a large consanguineous East-Anatolian family with six affected patients. The deleted region contains the beta-sarcoglycan gene (SGCB), the predicted gene SPATA18 (spermatogenesis associated 18 homolog) and several expressed sequence tags. Patients presented with a severe and progressive Duchenne-like muscular dystrophy phenotype, a combination of hyperlaxity and joint contractures, chest pain, palpitations, and dyspnea. 相似文献