variant相关论文
目的:对1个Usher综合征家系的临床特征及基因变异进行分析，明确其遗传病因。方法:对家系中患儿进行全外显子测序，就发现的可疑致病变......
目的:研究1例常染色体隐性先天性鱼鳞病(autosomal recessive congenital ichthyosis, ARCI)患儿的临床和遗传学特征。方法:收集和......
目的:对1个遗传性对称性色素异常症家系的临床特征和n ADAR基因变异进行分析，明确其可能的遗传病因。n 方法:对先证者的n ......
Emerging SARS-CoV-2 B.1.621/Mu variant is prominently resistant to inactivated vaccine-elicited anti
Although it first appeared almost two years ago,the COVID-19 pandemic continues to have an impact on a global scale,in p......
At present,an important direction of intelligent manufacturing is the products Digital Twin,that is,for each product var......
Two Distinct Sites are Essential for Virulent Infection and Support of Variant Satellite RNA Replica
Spontaneous variants of Beet black scorch virus (BBSV) and its satellite RNA were generated from cDNA clones by serial p......
Isolation and Characterization of a Lactobacillus delbrueckii subsp.Bulgaricus Mutant with low H+-AT
Lactobacillus delbrueckii subsp.bulgaricus is an acid-tolerant species used in yoghurt production and considered importa......
Hemocyanin (HMC) is a multifunctional immune molecule present in mollusks and arthropods and functions as an important a......
Mutation status and burden can improve prognostic prediction of patients with lower-risk myelodyspla
Objective Myelodysplastic syndromes(MDS)are a group of clonal hematological malignancies with significant clinical heter......
BIRC5/survivin genetic 3-untranslated regions(3UTR)microRNA(miRNA)binding sites variants are significantly associated wi......
BIRC5/survivin genetic 3-untranslated regions(3UTR)microRNA(miRNA)binding sites variants are significantly associated wi......
◆Objective: To investigate the relationship between TBX5 3-UTR variants and congenital heart disease (CHD) susceptibili......
As a member of ING gene family which harbor the PHD domain and NLS domain, ING4 was reported to interact with tumor supp......
Coronary artery vasospasm(CAVS)plays an important role in acute chest pain syndrome caused by transient and partial or c......
BACKGROUND Glycated hemoglobin(Hb)(HbA1c)is an indicator that is used to diagnose and monitor the treatment of diabetes.......
Cough variant is a common disease of the respiratory system and can lead to a unique type of asthma.The disease has no o......
New and Newer Vaccines for SARS-CoV-2 Variants. Are the Major Vaccine Developers on the Right Track,
Background: Global Covid-19 pandemic has led to remarkable scientific achievements resulting in the development and rapi......
Recently, we found 3 variants of hemocyanin subunit with higher molecular weight in shrimp Litopenaeus vannamei (Nam......
用Marc-145细胞从广东省3个发病猪群分离到3株病毒,经RT-PCR方法鉴定为PRRSV变异株（NSP21594～1680bp缺失）。3株分离株第1代均对Marc-1......
In prion diseases the irreversible protein structural transformation process is completed in the brains of mammals withi......
Local crystallographic orientation characteristics of grains with different sizes in a ZrTiAlValloy after interrupted co......
秋高气爽,是自古以来的登高踏青之季,在如今更是自驾游的黄金季节。“Autumn is best season in beijing.”——向外国友人介绍中......
Association Analysis of Genetic Variant of rs13331 in PSD95 Gene with Autism Spectrum Disorders:A Ca
Autism spectrum disorder(ASD) is a neurodevelopmental disorder characterized by high heritability. Recently, autism, the......
Association of a SLC30A8 Genetic Variant with Monotherapy of Repaglinide and Rosiglitazone Effect in
Objective To investigate a potential relationship between Solute carrier family 30 (zinc transporter) member 8 (SLC30A8)......
Three HAV variants, H2M20(35℃), H2M20(32℃) and H2M20K5(32℃), were developed by passagein different tissue culture ce......
慢性咳嗽是儿科门诊常见病,许多家长因患儿应用多种抗生素及中西药治疗,病情迁延不愈,焦急到处求医。现将我院儿科门诊1993年2月～1......
在刚刚结束的第10届广州国际汽车展上,大众汽车使出浑身解数,高调地展出旗下的新高尔夫、新迈腾、新朗逸、新速腾等车型,特别是蓝......
金庸笔下的侠客,各个都是历经坎坷,几经磨难之后才得以一番成就。如果按照这样的戏路,最应该在中国市场笑到最后、成为热门的当属......
Activating mechanism of transcriptor NF-kappaB regulated by hepatitis B virus X protein in hepatocel
AIM:To investigate the mechanism and significance ofNF-kB activation regulated by hepatitis B virus X protein(HBx)in he......
Nature-friendly river training measures to restore streams to their natural appearance can significantly alter their hyd......
Significant compressive stress may be induced in thin plate weldment by anti-welding heating treatment (AWHT) with a tem......
目的 观察雾化吸入布地奈德(普米克)治疗咳嗽变异性哮喘(CVA)的效果及其对患者血清细胞因子水平的影响.方法 将112例CVA患儿随机分......
BACKGROUND Variations in the anatomy of hepatic veins are of interest to transplant surgeons,interventional radiologists......
BACKGROUND In the classic descriptions of the human liver,the common hepatic duct forms at the confluence of left and ri......
Nucleation Analysis of Variant Transformed from Austenite with Σ3 Boundary in High-Strength Low-Allo
We elucidate here the effects of annealing twins on phase transformation products based on electron back-scatter diffrac......
PapersAcoustic Transmission Attenuation Caused by Random Surface...............Wang Hongzhang (ZE^ft) ( 1 )A Computer Mo......
目的探讨美国国家糖化血红蛋白标准化计划(NGSP)认证标本在实现不同地区糖化血红蛋白(Hb A1c)检测系统溯源性和可比性中的应用价值......
类小发作(Pctit Mal Variant)亦称Lennox-Gastaut综合征,是一种由原因不明脑病所引起的癫痫发作。本症发病早,一般在2岁至8岁开始......
家族性淀粉样变性多发性神经病(FAP-Ⅰ)型是由于在坐位30处甲硫氨酸取代缬氨酸后变异的转甲状腺蛋白(Variant Transthyretin VTTR......
1990～ 1998年间 ,克雅病 (ＣＪＤ)监测实验室拟诊ＣＪＤ病例 6 46例 ,其中变异型克雅病 (ＶＣＪＤ) 33例 ,本文分析了其神经病理学特征和有关的生化特征......
AIM: To determine common NOD2/CARD15 mutations and TLR4 D299G polymorphism in Hungarian patients with CD. METHODS: A tot......
Tetrahydrobiopterin (BH4) is an essential cofactor for all three nitric oxide synthase (NOS isoforms), which plays an im......
Comparison of Influenza Outbreaks in the Republic of Kazakhstan and Russia Induced by 2009 Yearly Ne
The aim of the work is the comparison of the epidemiology of influenza and acute respiratory virus infections (ARVI) in ......
Host genetic,environmental and viral factors are classified as three categories that determine clinical outcomes of hepa......
