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The X-linked form of Alport syndrome (AS) is caused by mutation in the COL4A5 gene located at Xq22.3 and encoding the alpha 5-chain of type IV-collagen. More than 400 different mutations have so far been detected in the COL4A5 gene. Not all mutations, however, will be detected using an exon-by-exon mutation detection strategy such as SSCP analysis or direct sequencing. We have previously reported
Circular building design could significantly reduce the environmental impact of buildings and the pressure on natural resources. However, most buildings today are not designed according to the principles of the circular economy. Most literature has focused on either methods for quantifying the lifecycle analysis of buildings and materials, or on innovative circular building materials, but not muchCircular building design could significantly reduce the environmental impact of buildings and the pressure on natural resources. However, most buildings today are not designed according to the principles of the circular economy. Most literature has focused on either methods for quantifying the lifecycle analysis of buildings and materials, or on innovative circular building materials, but not much
Desalination is an important method and cost effective for producing potable water and is a rapidly growing technology worldwide. According to the International Desalination Association, IDA data base the amount of desalinated water soon will reach the 100 MCM per day, which means double of this amount (200 MCM/day) is called brine discharge or rejected amount. In this study, we planned to follow
The Historical Varieties of Democracy dataset (Historical V-Dem) contains about 260 indicators, both factual and evaluative, describing various aspects of political regimes and state institutions. The dataset covers 91 polities globally – including most large, sovereign states, as well as some semi-sovereign entities and large colonies – from 1789 to 1920 for many cases. The majority of the indica
This study focuses on the boundary-spanning nature of sustainable business model innovation, studying multi-stakeholder engagement and alignment. Drawing on the concept of boundary work, we explore the different types of organizational boundary changes between focal companies and their external stakeholders, investigating specifically the process of exploring, negotiating, disrupting and realignin
We describe a NOVel form of Adaptive softening (NOVA) for collisionless N-body simulations, implemented in the RAMSES adaptive mesh refinement code. In RAMSES - that we refer to as a 'standard N-body method' - cells are only split if they containmore than eight particles (amass refinement criterion). Here, we introduce an additional criterion that the particle distribution within each cell be suff
Sensitivity analysis consists of an integral and important validatory check of a computer simulation model before the code is used in performing any kind of analysis operation. The present paper demonstrates the use of a relatively new method and tool for conducting global sensitivity analysis (GSA) for environmental models, providing simultaneously the first GSA study of the widely used 1d soil-v
Kärn- och elektrondynamik i atomer och molekyler är grunden för många fysiska processer och kemiska reaktioner. Ofta händer denna dynamik på tidsskalor som är så korta att de kallas ultrasnabba.För att studera ultrasnabba fenomen behövs tekniker som pump-prob-experiment med ultrasnabba ljuspulser. För att dessa experiment ska lyckas måste ljuspulsernas egenskaper noga studeras och styras för att d
Lens–based massive multiple–input multiple–output (MIMO) systems have considerable potential to reduce signal processing cost at millimeter–wave frequencies. As a result, they are able to lower the effective channel dimension via beam selection, realized with a network of radio–frequency (RF) switches. However, lens arrays suffer from the inherent quantization of the beamspace, as well as errors d
Members of the order Haemosporida are protist parasites that infect mammals, reptiles and birds. This group includes the causal agents of malaria, Plasmodium parasites, the genera Leucocytozoon and Fallisia, as well as the species rich genus Haemoproteus with its two subgenera Haemoproteus and Parahaemoproteus. Some species of Haemoproteus cause severe disease in avian hosts, and these parasites d
The research aims to language analysis of the Arab critical speech, which dealt with the study of narrative, in the theoretical and practical side, using pragmatic mechanisms, including holdings of terms, and effective tools in linguistic studies. It’s the starting point for many of the process of modern literary criticism. The study has taken two ways: first, the side of theoretical through summ
Our interest in this paper is to explore limit theorems for various geometric functionals of excursion sets of isotropic Gaussian random fields. In the past, asymptotics of nonlinear functionals of Gaussian random fields have been studied [see Berman (Sojourns and extremes of stochastic processes, Wadsworth & Brooks, Monterey, 1991), Kratz and León (Extremes 3(1):57–86, 2000), Kratz and León (
This paper presents a wideband quadrature radio receiver employing ΔΣ-based A/D-converting channel-select filters (ADCSFs). The output of the quadrature passive mixer is directly connected to the input of the ADCSFs, where a first-order ΔΣ modulator is incorporated into a fourth-order Butterworth channel-select filter (CSF) to provide sufficient dynamic range for a cellular system. A design method
In the era of Internet of Things, software systems need to interact with many physical entities and cope with new requirements at runtime. Self-Adaptive systems aim to tackle those challenges, often representing their context with a runtime model enabling better reasoning capabilities. However, those models quickly grow in size and need to be updated frequently with small changes due to a high num
Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombination-repair deficiency. Notably, these tandem-duplication hotspots were
The FBAdLibrarian is a simple, command line tool that archives images from unique hyperlinks offered by the Facebook Ad Library API.At the time of writing, Facebook permits the downloading of individual ad creatives such as images for academic research purposes. The Librarian assists researchers with this process. Users must have verified their identity with Facebook, received the appropriate acce
Different signal frequencies from body tissues, muscles fat etc affects the EMG signals. The signal frequencies from body organ can considered as noise which affects the output and hence for better signal output noised should be minimised. Traditional EMG machines supports analogue filtering while residual noises carried by signal channels. For good and better signal aggregation and useful data ga
Proportionality reasoning is an established form of legal argumentation under international human rights law, employed by the European Court of Human Rights and the United Nations (UN) human rights treaty bodies alike. However, relatively little has been written about its precise role and content in relation to equality norms. Proportionality scholars tend to draw on other examples to demonstrate
