全文获取类型
收费全文 | 40104篇 |
免费 | 3596篇 |
国内免费 | 1584篇 |
专业分类
耳鼻咽喉 | 286篇 |
儿科学 | 564篇 |
妇产科学 | 964篇 |
基础医学 | 10086篇 |
口腔科学 | 669篇 |
临床医学 | 2805篇 |
内科学 | 6161篇 |
皮肤病学 | 701篇 |
神经病学 | 1457篇 |
特种医学 | 1544篇 |
外国民族医学 | 3篇 |
外科学 | 1840篇 |
综合类 | 4696篇 |
现状与发展 | 7篇 |
预防医学 | 2975篇 |
眼科学 | 390篇 |
药学 | 3553篇 |
3篇 | |
中国医学 | 935篇 |
肿瘤学 | 5645篇 |
出版年
2024年 | 47篇 |
2023年 | 849篇 |
2022年 | 1076篇 |
2021年 | 1927篇 |
2020年 | 1703篇 |
2019年 | 1531篇 |
2018年 | 1379篇 |
2017年 | 1451篇 |
2016年 | 1518篇 |
2015年 | 1693篇 |
2014年 | 2224篇 |
2013年 | 2648篇 |
2012年 | 1772篇 |
2011年 | 2091篇 |
2010年 | 1641篇 |
2009年 | 1749篇 |
2008年 | 1712篇 |
2007年 | 1759篇 |
2006年 | 1720篇 |
2005年 | 1635篇 |
2004年 | 1487篇 |
2003年 | 1306篇 |
2002年 | 1176篇 |
2001年 | 1076篇 |
2000年 | 943篇 |
1999年 | 780篇 |
1998年 | 753篇 |
1997年 | 676篇 |
1996年 | 535篇 |
1995年 | 584篇 |
1994年 | 628篇 |
1993年 | 425篇 |
1992年 | 442篇 |
1991年 | 333篇 |
1990年 | 310篇 |
1989年 | 255篇 |
1988年 | 224篇 |
1987年 | 146篇 |
1986年 | 156篇 |
1985年 | 199篇 |
1984年 | 164篇 |
1983年 | 66篇 |
1982年 | 86篇 |
1981年 | 94篇 |
1980年 | 88篇 |
1979年 | 66篇 |
1978年 | 56篇 |
1977年 | 35篇 |
1976年 | 36篇 |
1975年 | 9篇 |
排序方式: 共有10000条查询结果,搜索用时 219 毫秒
1.
《European journal of medical genetics》2021,64(12):104345
BackgroundEpidermolysis bullosa (EB) is a genodermatosis characterized by skin fragility and blisters with variable severity. Patients with Dystrophic EB (DEB) or Junctional EB (JEB) mainly present to clinic due to greater functional impairment. Pathogenic sequence variations in COL7A1 are implicated in DEB.ObjectiveWe have tried to decipher the molecular spectrum and genotype phenotype correlation of 21 Indian patients with EB.MethodsNext generation sequencing (NGS) was performed to determine the pathogenic variants. Sanger sequencing was also done for validation of the variants in eleven individuals.ResultsPathogenic variants were detected in 20 individuals (diagnostic yield of 95%). Majority of them (90%) had sequence variation in COL7A1 while two had pathogenic variants in ITGB4 and KRT14 respectively. Out of the 18 patients confirmed to have DEB, 3 had Dominant DEB (DDEB) whereas 15 patients had Recessive DEB (RDEB). Amongst 23 sequence variations identified, 12 were found to be novel (3 were missense, 5 were premature termination codon variants while 4 were splice-site changes).ConclusionGenotype phenotype correlation was noted with milder manifestations in those with dominant inheritance types. Exact molecular diagnosis can be ascertained by NGS in majority of cases. 相似文献
2.
3.
4.
5.
《European journal of medical genetics》2022,65(6):104520
Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study presents the heterogeneous spectrum of genetic disorders in patients with microcephaly either in isolated form or in association with other neurological and extra-neural abnormalities. We present data of 91 patients from 87 unrelated families referred to our clinic during 2016–2020 and provide a comprehensive clinical and genetic landscape in the studied cohort. Molecular diagnosis using exome sequencing was made in 45 families giving a yield of 51.7%. In 9 additional families probable causative variants were detected. We identified disease causing variations in 49 genes that are involved in different functional pathways Among these, 36 had an autosomal recessive pattern, 8 had an autosomal dominant pattern (all inherited de novo), and 5 had an X-linked pattern. In 41 probands where sequence variations in autosomal recessive genes were identified 31 were homozygotes (including 16 from non-consanguineous families). The study added 28 novel pathogenic/likely pathogenic variations. The study also calls attention to phenotypic variability and expansion in spectrum as well as uncovers genes where microcephaly is not reported previously or is a rare finding. We here report phenotypes associated with the genes for ultra-rare NDDs with microcephaly namely ATRIP, MINPP1, PNPLA8, AIMP2, ANKLE2, NCAPD2 and TRIT1. 相似文献
6.
Lipid nanoparticles (LNPs) are becoming popular as a means of delivering therapeutics, including those based on nucleic acids and mRNA. The mRNA-based coronavirus disease 2019 vaccines are perfect examples to highlight the role played by drug delivery systems in advancing human health. The fundamentals of LNPs for the delivery of nucleic acid- and mRNA-based therapeutics, are well established. Thus, future research on LNPs will focus on addressing the following: expanding the scope of drug delivery to different constituents of the human body, expanding the number of diseases that can be targeted, and studying the change in the pharmacokinetics of LNPs under physiological and pathological conditions. This review article provides an overview of recent advances aimed at expanding the application of LNPs, focusing on the pharmacokinetics and advantages of LNPs. In addition, analytical techniques, library construction and screening, rational design, active targeting, and applicability to gene editing therapy have also been discussed. 相似文献
7.
María C. Lanuza-López Sandra G. Martínez-Garza Jesús F. Solórzano-Vázquez Daniela Paz-Cervantes Claudia González-Ortega Israel Maldonado-Rosas 《Gynecological endocrinology》2020,36(9):829-834
AbstractOocyte maturation defect is a challenging situation in the management of infertility, the etiology may be related to endocrine causes, protocols used in ovarian stimulation, oocyte intrinsic defects or procedures in embryology laboratory. We report three Mexican females in treatment for primary infertility with non-mature oocytes after ovary stimulation and oocyte capture in whom a genetic diagnosis of TUBB8-oocyte maturation defect was revealed by exome sequencing. Two couples achieved pregnancies though oocyte donation after establishing the genetic etiology. Our results expand the role of TUBB8-disorders in patients of non-Asian ethnicity. Oocyte maturation defects of monogenic origin are a growing group of disorders that endocrinologists and reproductive medicine specialists should be aware in order to provide referral to genetics for establish a correct and opportune diagnosis. 相似文献
8.
《Revista brasileira de otorrinolaringologia (English ed.)》2020,86(3):321-326
IntroductionMany studies have been done on proteomics, genomics, epigenetic, immunogenetics in many body fluids. Among these, circulating cell-free DNA (ccfDNA) entered the literature in 1948, but it has not been studied for many years due to technological deficiencies. Following recent advances, geno-metastasis has been mentioned and new research is needed in this area. ccfDNA is known to be an important biomolecule in this regard.ObjectiveThe presence of cell-free DNA in the circulatory system may offer a tremendous opportunity to provide novel biomarkers for thyroid diseases. This experimental study was conducted to determine the amount of ccfDNA in different thyroid diseases, then to evaluate whether the ccfDNA concentration varied between the disease groups and control group.MethodsIn total, we included 121 individuals in the present study. We collected blood samples and then determined the ccfDNA concentration in plasma of collected blood samples from three groups: thyroiditis (n = 33), benign (n = 37), and malignant (n = 30) and from a control group (n = 21).ResultsThe median values of the ccfDNA groups were found as 1610, 1665, 1685 and 576 ng/mL for the thyroiditis, benign, malign, and control groups, respectively. Findings showed that the ccfDNA of the three groups was significantly higher than the control (p < 0.0001). Each group was compared in terms of ccfDNA and the p-values of benign-thyroiditis, benign-malign, and thyroiditis-malign were 0.09, 0.65, and 0.29, respectively.ConclusionsThe clear differences between thyroid diseases and controls suggest that ccfDNA is worthy of attention as a biomarker for further evaluation of different thyroid diseases. Likewise, it might indicate a clear tendency that ccfDNA can also be used to distinguish different thyroid diseases. 相似文献
9.
应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。 相似文献
10.