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Genome sequencing can identify individuals in the general population who harbor rare coding variants in genes for Mendelian disorders1-7 and who may consequently have increased disease risk. Previous studies of rare variants in phenotypically extreme individuals display ascertainment bias and may demonstrate inflated effect-size estimates8-12. We sequenced seven genes for maturity-onset diabetes o
The electron-ion scattering experiment ELISe is part of the installations envisaged at the new experimental storage ring at the International Facility for Antiproton and Ion Research (FAIR) in Darmstadt, Germany. It offers an unique opportunity to use electrons as probe in investigations of the structure of exotic nuclei. The conceptual design and the scientific challenges of ELISe are presented.
The study presents a method to evaluate the response of forest ecosystems to increased biomass extraction based on the integrated ecosystem model ForSAFE. It evaluates the effects of residue removal, intensification of thinnings and a shorter rotation period on a forest site in Southern Sweden. The evaluation includes multiple ecosystem indicators for productivity, carbon storage, wood production,
Forest soils are generally considered to be net sinks of methane (CH4), but CH4 fluxes vary spatially depending on soil conditions. Measuring CH4 exchange with chambers, which are commonly used for this purpose, might not result in representative fluxes at site scale. Appropriate methods for upscaling CH4 fluxes from point measurements to site scale are therefore needed. At the boreal forest resea
The purpose of this thesis is to analyze how the ongoing controversy surrounding the Internet, the phenomena of digitalization and file sharing will affect the music industry in the form of the “big five“ labels. Furthermore the thesis aims to present a recipe of strategies for the companies’ survival by studying their situation through a theoretical perspective in conjunction with a comparative a
The purpose of this study was to gain understanding of the student-athletes’ transition to a sport gymnasium (sport high school). The objectives were: (1) to explore the Dual Career Survey and Student Identity Measurement Scale, (2) to examine the dynamics during the first six month at the sport gymnasium in student-athletes (a) transition variables, (b) personal variables, (c) importance/satisfac
Idag finns det många olika sätt att avbilda människokroppens inre. Två av de vanligaste metoderna som används idag är magnetresonans (MR) och datortomografi (CT). MR använder sig av starka magnetfält och radiovågor för att skapa snittbilder av kroppen, medan CT använder sig av röntgenstrålar. Båda kamerorna har sina fördelar och nackdelar. MR ger bättre vävnadskontrast, det vill säga det är lättarIntroduction MRI provides better soft tissue contrast than CT and is an invaluable tool in the radiotherapy treatment process. The gold standard today is image fusion of MRI and CT data where targets and organs-at-risk are delineated on the MRI data and the dose calculation is performed on the CT data. It is appealing to exclude CT from the process in order to reduce cost and time and to eliminate
Identification of the perivascular compartment as the point of exchange between cerebrospinal fluid (CSF) and interstitial fluid mediating solute clearance in the brain, named the glymphatic system, has emerged as an important clearance pathway for neurotoxic peptides such as amyloid-beta. However, the foundational science of the glymphatic system is based on rodent studies. Here we investigated w
Context. With its origin coming from several sources (Big Bang, stars, cosmic rays) and given its strong depletion during its stellar lifetime, the lithium element is of great interest as its chemical evolution in the Milky Way is not well understood at present. To help constrain stellar and galactic chemical evolution models, numerous and precise lithium abundances are necessary for a large range
The Alternative DSM-5 Model for Personality Disorders (AMPD) consists of level of personality functioning (Criterion A) and maladaptive personality traits (Criterion B). The brief scale versions of these are understudied, while often being used by clinicians and researchers. In this study, we wanted to investigate the overlap and predictive validity of Criterion A and B. Participants (N = 253) wer
Introduction: The development of inhibitory antibodies is a severe complication of clotting factor replacement therapy in patients with severe haemophilia A (HA). Current World Federation of Hemophilia (WFH) guidelines for haemophilia care indicate that eradication of inhibitors is best achieved through immune tolerance induction (ITI) therapy. Aim: The European Collaborative Haemophilia Network c
Occupational balance (OB) may be a major determinant of health outcomes due to its role in bringing a sense of purpose in the occupations that are personally experienced as a process of getting health and wellness. The Occupational Balance Questionnaire (OBQ) is a reliable instrument for measuring OB, although it has not been adapted and validated in Spain so far; therefore, this study had a doubl
The sputter deposition and the growth of thin copper films on float glass substrates are in situ studied using grazing incidence, reflection mode X-ray absorption fine structure spectroscopy with subsecond time resolution. The experimental data are compared with model calculations, assuming the presence of crystalline, face-centered cubic metallic Cu nanostructures. From a detailed analysis of the
The reaction of perbenzylated (±)-myo-inositol 1,2-bis- and 1,2,6-tris-phosphites with benzyl bromoacetate, followed by catalytic (Pd/C) hydrogenolysis affords (±)-myo-inositol 1,2-bis- and 1,2,6-tris(carboxymethylphosphonate). The same procedure is used for the synthesis methyl α-D-mannopyranoside 2,3,4-tris(carboxymethylphosphonate).
