全文获取类型
收费全文 | 7131篇 |
免费 | 609篇 |
国内免费 | 112篇 |
专业分类
耳鼻咽喉 | 109篇 |
儿科学 | 1105篇 |
妇产科学 | 232篇 |
基础医学 | 1584篇 |
口腔科学 | 451篇 |
临床医学 | 343篇 |
内科学 | 1022篇 |
皮肤病学 | 113篇 |
神经病学 | 471篇 |
特种医学 | 344篇 |
外科学 | 1007篇 |
综合类 | 396篇 |
现状与发展 | 2篇 |
预防医学 | 144篇 |
眼科学 | 81篇 |
药学 | 128篇 |
2篇 | |
中国医学 | 33篇 |
肿瘤学 | 285篇 |
出版年
2024年 | 13篇 |
2023年 | 131篇 |
2022年 | 240篇 |
2021年 | 286篇 |
2020年 | 276篇 |
2019年 | 327篇 |
2018年 | 265篇 |
2017年 | 265篇 |
2016年 | 270篇 |
2015年 | 239篇 |
2014年 | 456篇 |
2013年 | 417篇 |
2012年 | 267篇 |
2011年 | 365篇 |
2010年 | 306篇 |
2009年 | 316篇 |
2008年 | 290篇 |
2007年 | 296篇 |
2006年 | 244篇 |
2005年 | 236篇 |
2004年 | 189篇 |
2003年 | 166篇 |
2002年 | 152篇 |
2001年 | 148篇 |
2000年 | 145篇 |
1999年 | 124篇 |
1998年 | 154篇 |
1997年 | 124篇 |
1996年 | 129篇 |
1995年 | 93篇 |
1994年 | 75篇 |
1993年 | 102篇 |
1992年 | 94篇 |
1991年 | 78篇 |
1990年 | 45篇 |
1989年 | 46篇 |
1988年 | 44篇 |
1987年 | 44篇 |
1986年 | 42篇 |
1985年 | 56篇 |
1984年 | 46篇 |
1983年 | 36篇 |
1982年 | 34篇 |
1981年 | 42篇 |
1980年 | 41篇 |
1979年 | 25篇 |
1978年 | 25篇 |
1977年 | 20篇 |
1976年 | 10篇 |
1973年 | 6篇 |
排序方式: 共有7852条查询结果,搜索用时 31 毫秒
41.
Coexistence of Neoplasia and Cortical Dysplasia in Patients Presenting with Seizures 总被引:16,自引:10,他引:6
Summary: Tumors and cortical dysplasia are associated with epilepsy, but few studies have examined the coexistence of neoplasia and dysplasia in these patients. We studied 13 patients (age 4–29 years) with recurrent seizures of 1 month to 21-year' duration (median 72 months). Ten patients were aged <21 years. Imaging studies localized the lesion to the temporal lobe (10 patients), parietal lobe (2 patients), and frontal lobe (1 patient). Tumors included ganglioglioma (8 patients), dysembryoplastic neuroepithelial tumor (DNT) (3 patients), and low-grade as- trocytoma (2 patients). Cortical dysplasia, including atypical aggregates of neurons (6 patients), multifocal loss of the cortical laminar architecture (7 patients), and neurons in the molecular layer of the cortex (3 patients) were observed near but separate from the tumor. Coexistence of certain tumors with cortical dysplasia, most frequently observed in the pediatric population, suggests a hamar-tomatous/dysplastic nature of the neoplasms. 相似文献
42.
The spondylometaphyseal dysplasias are a very heterogeneous group of disorders. Only one has been clearly defined, namely, the spondylometaphyseal dysplasia — Kozlowski type, known also as the common type. This disorder is inherited as an autosomal dominant trait. In this report we describe an Arabic-Moslem kindred with spondylometaphyseal dysplasia, not of the common type, with an autosomal dominant mode of inheritance, indicating further heterogeneity. 相似文献
43.
Jocelyne Daigneault Gervais Aubin Fernand Simard Marc De Braekeleer 《Clinical genetics》1991,40(4):298-303
Cystic fibrosis (CF) is an autosomal recessive disorder with a prevalence at birth estimated at 1/2000-1/2500 livebirths in Caucasian populations. Some 127 CF individuals are known in Saguenay-Lac-St-Jean (SLSJ), a geographically isolated region of Quebec. The prevalence at birth was estimated at 1/902 live borns, and the carrier rate was estimated at 1/15 inhabitants in the SLSJ region. The mean inbreeding coefficient was only slightly elevated in the CF group compared with three control groups, and was due to remote consanguinity. The mean kinship coefficient was 2.4 times higher in the CF group than in the control groups. In SLSJ region, the places of origin of the CF individuals and their parents did not show a clustered nonuniform distribution. Endogamy was not higher in the CF group than in control groups. 相似文献
44.
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
45.
Lois J. Starr Jürgen W. Spranger Vamshi K. Rao Richard Lutz Anji T. Yetman 《American journal of medical genetics. Part A》2019,179(7):1270-1275
PIGQ (OMIM *605754) encodes phosphatidylinositol glycan biosynthesis class Q (PIGQ) and is required for proper functioning of an N‐acetylglucosamine transferase complex in a similar manner to the more established PIGA, PIGC, and PIGH. There are two previous patients reported with homozygous and apparently deleterious PIGQ mutations. Here, we provide the first detailed clinical report of a patient with heterozygous deleterious mutations associated with glycosylphosphatidylinositol‐anchored protein (GPI‐AP) biosynthesis deficiency. Our patient died at 10 months of age. The rare skeletal findings in this disorder expand the differential diagnosis of long bone radiolucent lesions and sphenoid wing dysplasia. This clinical report describes a new and rare disorder—PIGQ GPI‐AP biosynthesis deficiency syndrome. 相似文献
46.
Infants with Ureaplasma urealyticum in the lower respiratory tract are at risk for chronic lung disease (CLD) or bronchopulmonary dysplasia (BPD) but causality has been difficult to prove. The goal of this study was to identify ureaplasma in human neonatal lung tissue using the in situ hybridization (ISH) procedure described in Part 1 (Exp. Mol. Pathol., in press) of this report. By correlating their presence with the histopathologic findings, it may be possible to provide further evidence of the pathogenicity of ureaplasmas and their association with BPD. Lung autopsy tissue from seven infants with positive cultures and seven infants with negative cultures for ureaplasma were included in the study. All culture-positive infants were positive for ureaplasma on ISH and all had histopathologic evidence of BPD. Two of the seven infants with negative cultures were positive for ureaplasma with ISH. Of interest, these two infants were also found to have BPD at autopsy. The other five infants with negative cultures were also negative for ureaplasma on ISH and had no evidence of BPD. This study correlates the presence of U. urealyticum by ISH with the finding of BPD on histopathologic evaluation and provides evidence that it has a role in the development of CLD. 相似文献
47.
H.-D. Rott 《Clinical genetics》1984,26(1):36-38
Dermatoglyphic investigation of palm prints in patients with Incontinentia pigmenti revealed in five of eight cases a partial ridge dissociation with lack of sweat gland pores. This disease can, therefore, be accepted as a second X-linked anhidrotic ectodermal dysplasia, which, however, is only segregated in the female. 相似文献
48.
This paper describes an 8-year-old girl with Klippel-Feil syndrome (KFS) associated with frontonasal dysplasia, Sprengel deformity and postaxial polydactyly. These findings are tentatively explained on the basis of a single mutant gene for KFS with broad action in the morphogenesis of the skeletal system. 相似文献
49.
50.
W. Robert Anderson 《Ultrastructural pathology》1990,14(3):221-232
The sequential stages of bronchopulmonary dysplasia occurring in 18 infants after intensive respiratory therapy supplemented by oxygen in high concentrations were studied by correlative light, scanning, and transmission electron microscopy. Infant survival ranged from 3 to 225 days. The earliest stage was an exudative reaction with a predominance of hyaline membranes. This merged with a subacute reparative response that was replaced by a chronic fibroproliferative stage in infants of longest survival; this stage was complicated by pulmonary fibrosis and emphysema. Correlative scanning and transmission electron microscopy demonstrated that type 2 pneumocytes contributed significantly to the reparative fibroproliferative response by organization of hyaline membranes and reepithelialization of damaged septal walls. 相似文献