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Purpose: This study aimsed to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals. Methods: Individuals harboring heterozygous missense or loss-of-function variants in SNAP25 were assembled through collaboration with international colleagues,
The PNPLA3 I148M variant is the major genetic risk factor for all stages of fatty liver disease, but the underlying pathophysiology remains unclear. We studied the effect of this variant on hepatic metabolism in homozygous carriers and non-carriers under multiple physiological conditions with state-of-the-art stable isotope techniques. After an overnight fast, carriers had higher plasma β-hydroxyb
Matrester i Chiles huvudstad kan driva bussar och ge landet skjuts i klimatfrågan. Två tredjedelar av stadsbussarna i Santiago de Chile skulle kunna drivas av biogas, om det organiska avfallet i landets kärnregion tas tillvara på. Förändringen hade dessutom minskat Chiles totala klimatpåverkan med 2%. I Sverige är vi vana vid att åka stadsbuss där det glatt annonseras att den drivs av matavfalle
Abstract of chapter 1 For n >= 2 the number of mixing n-step subshifts of finite type (sft) over the alphabet {0, 1} is proven to be at least 15/16 times the number of transitive n-step sfts. A conjecture assumes the latter to be at least 2^(3*2^(n-1)-n). Abstract of chapter 2 The alternating colouring function is defined. Strings over the alphabet {0, 1} are divided in colourable and non-colouraImagine an of characters A and B. Such can be thought of as a paper strip with As and Bs written on it, one end of which one holds in the hand while the other stretches over the horizon without ever ending. Or as a calculator that displays a new character each second. Or as a printer with an infinite amount of paper and ink that unfortunately only prints As and Bs. In contrast to infinite strings
Purpose The purpose of this study is to better understand online anonymity in the global file-sharing community in the context of social norms and copyright law. The study describes the respondents in terms of use of Virtual Private Networks (VPNs) or similar services with respect to age, gender, geographical location, as well as analysing the correlation with file-sharing frequencies. Design/me
The halotolerant bacterial strain BU-4, isolated from a hypersaline environment, was identified as an exopolysaccharide (EPS) producer. Pretreatment liquids of steam-exploded quinoa stalks and enzymatic hydrolysates of Curupaú sawdust were evaluated as carbon sources for EPS production with the BU-4 strain, and the produced EPS was characterized using FTIR, TGA, and SEM. Cultivation was performed
The extraction of spectral information in the inversion process of time-domain (TD) induced polarization (IP) data is changing the use of the TDIP method. Data interpretation is evolving from a qualitative description of the subsurface, able only to discriminate the presence of contrasts in chargeability parameters, towards a quantitative analysis of the investigated media, which allows for detail
In order to reduce the net climate impact of concrete production, it is necessary for the industry to undertake several actions. Among these is to include fly ash and slag as supplementary cementitious materials. Accordingly, this project has studied concrete containing low-calcium fly ash or ground-granulated blast-furnace slag. In incorporating fly ash or slag as supplementary material, the ceme
This thesis investigates what the abolishment of the National Military Service (July 2010) meant for the content of what, and the manner in which, the Swedish Armed Forces communicates to the Swedish public. The main theoretical and methodological approach of the thesis lies within discourse analysis. Additionally, theories of globalization and perception management (propaganda) are used to analyz
This paper focuses on the cessation of the Angolan refugees in Zambia and South Africa. The paper aims to identify the problems concerning the cessation for a group of ref-ugees and will show that even thought the group as a whole might not have reason to fear for their life, there could be individuals within the group who have. Furthermore, the essay alerts how arbitrary the process to get an alt
This thesis explores the causes and ramifications of representing women in gender-equality advocacy within the realm of International Development cooperation’s. This study shows that through representing the issues of development and the people for whom they are aimed - we risk constructing and reconstructing conceptions of what the postcolonial feminist field of studies calls ´third world differe
In this thesis, the power dynamics underpinning the relationship between USAIDfunded humanitarian organizations and U.S governmental agencies – in relation to the Global War on Terror (GWoT) - are critically investigated. To this end, a Foucauldian lens of ’disciplinary power’ is utilized to uncover U.S governmental agencies’ employment of disciplinary practices categorized as surveillance, correc
