全文获取类型
收费全文 | 18148篇 |
免费 | 1134篇 |
国内免费 | 79篇 |
专业分类
耳鼻咽喉 | 130篇 |
儿科学 | 469篇 |
妇产科学 | 450篇 |
基础医学 | 2821篇 |
口腔科学 | 702篇 |
临床医学 | 1479篇 |
内科学 | 4060篇 |
皮肤病学 | 357篇 |
神经病学 | 2156篇 |
特种医学 | 476篇 |
外科学 | 1710篇 |
综合类 | 47篇 |
一般理论 | 5篇 |
预防医学 | 1095篇 |
眼科学 | 277篇 |
药学 | 1438篇 |
中国医学 | 60篇 |
肿瘤学 | 1629篇 |
出版年
2024年 | 12篇 |
2023年 | 158篇 |
2022年 | 320篇 |
2021年 | 622篇 |
2020年 | 381篇 |
2019年 | 515篇 |
2018年 | 609篇 |
2017年 | 481篇 |
2016年 | 557篇 |
2015年 | 689篇 |
2014年 | 796篇 |
2013年 | 1027篇 |
2012年 | 1555篇 |
2011年 | 1657篇 |
2010年 | 841篇 |
2009年 | 792篇 |
2008年 | 1254篇 |
2007年 | 1183篇 |
2006年 | 1097篇 |
2005年 | 1021篇 |
2004年 | 927篇 |
2003年 | 844篇 |
2002年 | 716篇 |
2001年 | 140篇 |
2000年 | 120篇 |
1999年 | 112篇 |
1998年 | 124篇 |
1997年 | 111篇 |
1996年 | 80篇 |
1995年 | 66篇 |
1994年 | 54篇 |
1993年 | 36篇 |
1992年 | 62篇 |
1991年 | 38篇 |
1990年 | 38篇 |
1989年 | 40篇 |
1988年 | 26篇 |
1987年 | 37篇 |
1986年 | 28篇 |
1985年 | 26篇 |
1984年 | 22篇 |
1983年 | 19篇 |
1982年 | 18篇 |
1981年 | 16篇 |
1980年 | 10篇 |
1979年 | 12篇 |
1978年 | 8篇 |
1975年 | 9篇 |
1973年 | 10篇 |
1972年 | 10篇 |
排序方式: 共有10000条查询结果,搜索用时 15 毫秒
91.
Marianna Farnè Giovanna M. Tedesco Chiara Bedetti Amedea Mencarelli Daniela Rogaia Davide Colavito Giuseppe Di Cara Gabriela Stangoni Stefania Troiani Alessandra Ferlini Paolo Prontera 《American journal of medical genetics. Part A》2020,182(10):2377-2383
Mutations in the MBOAT7 gene have been described in 43 patients, belonging to 18 families, showing nonspecific clinical features (intellectual disability [ID], seizures, microcephaly or macrocephaly, and mild to moderate cerebellar atrophy) that make the clinical diagnosis difficult. Here we report the first Italian patient, a 22.5‐year‐old female, one of the oldest reported, born to apparently consanguineous parents. She shows severe ID, macrocephaly, seizures, aggressive outbursts, hyperphagia. We also documented progressive atrophy of the cerebellar vermis, that appeared not before the age of 7. The whole‐exome sequencing of the trio identified a novel homozygous variant c.1057_1058delGCinsCA (p.Ala353His) in the MBOAT7 gene. The variant is considered to be likely pathogenic, since it is absent from population database and it lies in a highly conserved amino acid residue. This disorder has a neurometabolic pathogenesis, implicating a phospholipid remodeling abnormalities. A brain hydrogen‐magnetic resonance spectroscopy (H‐MRS) examination in our patient disclosed a peculiar neurometabolic profile in the cerebellar hemispheric region. This new finding could address the clinical suspicion of MBOAT7‐related disorder, among the wide range of genetic conditions associated with ID and cerebellar atrophy. Moreover, the documented progression of cerebellar atrophy and the worsening of the disease only after some years open to the possibility of a therapeutic window after birth. 相似文献
92.
Ehling D Kennerknecht I Junge A Prager B Exeler R Behre B Horst J Schmitt-John T Bartsch O Wirth J 《American journal of medical genetics. Part A》2004,131(3):265-272
We describe two unrelated patients with cytogenetically visible deletions of 21q22.2-q22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downward-slanting palpebral fissures, depressed nasal bridge, small nose with bulbous tip, and mild mental retardation (MR). FISH and molecular studies indicated common deleted areas but different breakpoints. In patient 1, the breakpoint was fine mapped to a 5.2 kb interval between exon 5 and exon 8 of the ETS2 gene. The subtelomeric FISH probe was absent on one homologue 21 indicating a terminal deletion spanning approximately 7.9 Mb in size. In patient 2, the proximal breakpoint was determined to be 300-700 kb distal to ETS2, and the distal breakpoint 2.5-0.3 Mb from the 21q telomere, indicating an interstitial deletion sized approximately 4.7-7.3 Mb. The 21q- syndrome is rare and typically associated with a severe phenotype, but different outcomes depending on the size and location of the deleted area have been reported. Our data show that monosomy 21q of the area distal to the ETS2 gene, representing the terminal 7.9 Mb of 21q, may result in mild phenotypes comprising facial anomalies, thin marfanoid build, and mild MR, with or without signs of holoprosencephaly. 相似文献
93.
94.
Fernàndez-Busquets X Kuhns WJ Simpson TL Ho M Gerosa D Grob M Burger MM 《Developmental and comparative immunology》2002,26(4):313-323
Sponge immunocyte identification is of interest to comparative immunologists since characterizing these cells will allow investigations into the mechanisms of non-self recognition in the oldest animal phylum. Here, we report that polyclonal antibodies raised against the core protein of a proteoglycan involved in cell adhesion in the marine sponge Microciona prolifera are specific markers for archaeocytes, the totipotent sponge cells. Archaeocytes are mobilized upon allogeneic contact and they accumulate in the contact zone. A second type of cell, the gray cells, are specifically recognized by monoclonal antibodies raised against CD44, a hyaluronan receptor. Gray cells do also accumulate in the contact area. Specific staining of a third sponge cell type, the rhabdiferous cells, shows that these do not accumulate upon allografting. These specific cell markers allow tracking of archaeocytes and gray cells, and show that they play an active role in sponge allogeneic reactions. 相似文献
95.
96.
Zauli D Contestabile S Grassi A Bortolotti R Ballardini G Bianchi FB 《The Journal of allergy and clinical immunology》2002,110(3):538-9; author reply 539
97.
98.
Fausto Sessa Daniela Furlan Anna Genasetti Paola Billo Maddalena Feltri Carlo Capella 《Diagnostic molecular pathology》2003,12(2):96-102
We studied the MSI (microsatellite instability) status and p53 expression in a series of 71 gallbladder cancers (GCs) of different histologic type. All neoplasms were examined combining a microsatellite analysis at mononucleotide locus BAT-26 and an immunohistochemical study for hMSH2, hMLH1, and p53 proteins and markers of gastric and intestinal differentiation. All the 71 GCs were MSS (microsatellite stable). The p53 protein was found in 100% of undifferentiated GCs, 67% of conventional gallbladder adenocarcinomas, 50% of mucinous adenocarcinomas, and 20% GCs with squamous differentiation. All 71 MSS tumors showed presence of immunohistochemical expression of both hMLH1 and hMSH2 gene products. We concluded that microsatellite instability does not play a role in the developing of GC while p53 seems to be the most important alteration found in a large proportion of these cancers, with the only exception of mucinous and squamous gallbladder carcinomas. 相似文献
99.
A comparison between in vivo and ex vivo HR-MAS 1H MR spectra of a pediatric posterior fossa lesion 总被引:1,自引:0,他引:1
Tugnoli V Schenetti L Mucci A Nocetti L Toraci C Mavilla L Basso G Rovati R Tavani F Zunarelli E Righi V Tosi MR 《International journal of molecular medicine》2005,16(2):301-307
The present case report was aimed at identifying the molecular profile characteristic of a primitive neuro-ectodermal tumor (PNET) in a 3-year-old child affected by a lesion localized in the cerebellar region. The histological diagnosis was medulloblastoma. In vivo single voxel 1H magnetic resonance spectroscopy (MRS) shows high specificity in detecting the main metabolic alterations in the primitive cerebellar lesion; a very high amount of the choline-containing compounds and very low level of creatine derivatives and N-acetylaspartate. Ex vivo high resolution magic angle spinning (HR-MAS) 1H magnetic resonance spectroscopy, performed at 9.4 Tesla on the neoplastic specimen collected during surgery, allows for the unambiguous identification of several metabolites giving a more in-depth evaluation of the metabolic pattern of the lesion. The ex vivo HR-MAS MR spectra show that the spectral detail is much higher than that obtained in vivo and that, for example, myo-inositol, taurine and phosphorylethanolamine contribute to the in vivo signal at 3.2 ppm, usually attributed to choline-containing compounds. In addition, the spectroscopic data appear to correlate with some morphological features of the medulloblastoma. Consequently, the present study shows that ex vivo HR-MAS 1H MRS is able to strongly improve the clinical possibility of in vivo MRS and can be used in conjunction with in vivo spectroscopy for clinical purposes. 相似文献
100.