11 research outputs found

    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

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    Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time

    Analysis and Suggestions for Business Model of eBayEachnet

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    EBAY易趣网和淘宝网是目前中国电子商务中经常被提及的两个对手。2002年时,EBAY易趣曾经一枝独秀,但在淘宝网和拍拍网的竞争下,迅速丧失市场领先地位,市场份额逐步缩小,并终于与TOM集团有限公司下属的TOM在线成立了合营公司。 本文主要运用翁君奕教授的《商业模式创新》理论,以合营公司的成立为研究截止时间,尝试揭示、分析、解释EBAY易趣商务模式针对中国大陆市场而言存在的不足之处,并提出实现转机的若干建议。全文共分五章,分别如下: 第一章主要介绍论文写作的背景和研究意义所在,以及研究理论和框架。 第二章针对EBAY易趣商务模式,按照商业模式创新理论的层次,从商务模式环境、商务模式要素、...eBayEachnet and Taobao are main competitors in China’s E-commerce. eBayEachnet just took the lead in as earlier as year 2002, however, it was overwhelmed by Taobao and Paipai gradually, the leading was lost and the share market diminished very soon, as a result, it incorporated with Tom Online, a filial of Tom group limited company.Bearing in mind the theory of <Business Models Innovatio...学位:工商管理硕士院系专业:管理学院工商管理教育中心(MBA中心)_工商管理硕士(MBA)学号:20041523

    Review of high recovery concentrate management options

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    Current methods of inland concentrate disposal include surface water discharge, deep-well injection and evaporation ponds. These methods are unsustainable and are limited by high capital cost and non-ubiquitous applications. This paper gives an overview of potential alternatives and technologies available that can reduce the concentrate formed via reducing its volume or recycling. Potential alternatives explored have been electrodialysis, mechanical evaporation, vibratory shear-enhanced process (VSEP) and wind-aided intensification of evaporation. All technologies have potential for use in areas distant from the coast and have better performance than currents management techniques. This paper reviews multiple studies that have explored alternate technologies for concentrate disposal in terms of economics and feasibility. Of the five case studies presented, VSEP shows promise as a secondary system of treatment via enhancing percentage recovery; higher permeate flux and lower operational costs

    Posttraumatic growth is related to subjective well-being of aid workers exposed to cumulative trauma in Palestine

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