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Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection of genes on individual panels has been narrow and the validation strategies used have fallen short of the standards required for clinical use. Clinical-grade validation o

Fluid biomarkers are revolutionizing the diagnosis and management of neurodegenerative diseases by enabling earlier diagnosis and disease monitoring. In particular, blood-based biomarkers have emerged as a minimally invasive and scalable alternative to cerebrospinal fluid analysis. Recent advances in blood-based tau biomarkers have shown high diagnostic accuracy for Alzheimer’s disease (AD). Other

Platform trials have become widely adopted across multiple disease areas over recent years, however, guidelines for operationalising these trials have not kept pace. We outline a series of documents that summarise the statistical components, and implicit processes, of the Staphylococcus aureus Network Adaptive Platform (SNAP) trial to provide an informal template for other researchers and reviewer

Understanding the molecular determinants that underpin the clinical heterogeneity of non-muscle-invasive bladder cancer (NMIBC) is essential for prognostication and therapy development. Stage T1 disease in particular presents a high risk of progression and requires improved understanding. We present a detailed multi-omics study containing gene expression, copy number, and mutational profiles that

BACKGROUND AND AIMS: This study aimed to expand the European Prospective Investigation into Cancer and Nutrition (EPIC) nutrient database (ENDB) by adding amino acid (AA) values, using the U.S. nutrient database (USNDB). Additionally, we aimed to evaluate these new protein and AA intake estimates from the EPIC dietary questionnaires (DQ) and 24-h dietary recalls (24-HDR) using different matching p

The Sardinian dhole (Cynotherium sardous) was an iconic and unique canid species that was endemic to Sardinia and Corsica until it became extinct at the end of the Late Pleistocene. Given its peculiar dental morphology, small body size, and high level of endemism, several extant canids have been proposed as possible relatives of the Sardinian dhole, including the Asian dhole and African hunting doThe Sardinian dhole (Cynotherium sardous)1 was an iconic and unique canid species that was endemic to Sardinia and Corsica until it became extinct at the end of the Late Pleistocene.2-5 Given its peculiar dental morphology, small body size, and high level of endemism, several extant canids have been proposed as possible relatives of the Sardinian dhole, including the Asian dhole and African huntin

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In type 2 diabetes (T2D), hepatic insulin resistance is strongly associated with nonalcoholic fatty liver disease (NAFLD). In this study, we hypothesized that the DNA methylome of livers from patients with T2D compared with livers of individuals with normal plasma glucose levels can unveil some mechanism of hepatic insulin resistance that could link to NAFLD. Using DNA methylome and transcriptome

We investigated seven children from six families to expand the phenotypic spectrum associated with an early infantile epileptic encephalopathy caused by biallelic pathogenic variants in the phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ) gene. The affected children were all identified by clinical or research exome sequencing. Clinical data, including EEGs and MRIs, was comprehensive

Scenarios are a useful tool to help think about and visualise the future and, as such, are utilised by many policymakers and practitioners. Future scenarios have not been used to explore the urban context in much depth, yet have the potential to provide valuable insights into the robustness of decisions being made today in the name of sustainability. As part of a major research project entitled Ur

The SCHOLAR-2 retrospective study highlighted poor overall survival (OS) with standard of care (SOC) regimens among patients with relapsed/refractory (R/R) mantle cell lymphoma (MCL) who failed a covalent Bruton tyrosine kinase inhibitor (BTKi). In the ZUMA-2 single-arm trial, brexucabtagene autoleucel (brexu-cel; autologous anti-CD19 CAR T-cell therapy) demonstrated high rates of durable response

– 254 – Utbildningsplan 1 Identifikation • Programmets namn och inriktning: kyrkomusikerutbildning. • Omfattning i högskolepoäng: 180 hp. • Nivå: G. • Programkod: KGKYM. • Utbildningsplanen är beslutad i Konstnärliga fakultetsstyrelsen den 12 juni 2013. Utbild­ ningsplanen träder i kraft den 2 september 2013. 2 Programbeskrivning Högre kyrkomusikerutbildning syftar till att utbilda musiker med god

https://www.mhm.lu.se/en/sites/mhm.lu.se.en/files/utbildnings_utbpl_kandidat_ky1.pdf - 2026-06-05

Professor Kontaktinformation E-post: anna_maria [dot] jonsson [at] mgeo [dot] lu [dot] seOrganisation Miljö- och geovetenskapliga institutionen (MGeo) Hämtställe: 16 WebbplatsAnna Maria Jönssons profil i Lunds universitets forskningsportalAndra roller Universitetslektor Institutionen för naturgeografi och ekosystemvetenskap Professor Institutionen för naturgeografi och ekosystemvetenskap Lärare In

https://www.nateko.lu.se/sv/anna-maria-jonsson - 2026-06-04

Rapport till UMAS ledning tisdag 14/11 2006 kl 13 TEDDY årsrapport 1 2010-04-23 TEDDY-studien (The Environmental Determinants of Diabetes in the Young) Årsrapport 2009 TEDDY årsrapport 2 2010-04-23 Bakgrund Vi kan inte leva utan insulin. Ett barn som har fått typ 1 diabetes saknar insulin och tvingas således ta dagliga insulininjektioner och göra ständiga blodsockerkontroller under resten av livet

https://www.teddy.lu.se/sites/teddy.lu.se/files/2009_teddy_arsrapport.pdf - 2026-06-05

Microsoft Word - HILMA 2008-03-14.doc HILMA Historiska Institutionen i Lund Meddelar Att… Årgång 33, 2007/08, Nr 10, 2008-03-14 Underlagen till HILMA förvaras i pärmar som står i rum 209, på hyllan ovanför faxen. Där hittar du ytterligare information om seminarier, anställningsvillkor, stipendier och annat samt ansök- ningsblanketter i förekommande fall. De sistnämnda, som är samlade i en separat

https://www.hist.lu.se/fileadmin/_migrated/content_uploads/hilma_vt08_20.pdf - 2026-06-04

Till följd av finanskrisen förlorade konsumenter genom placeringar i riskfyllda finansiella instrument stora delar av sina investeringar. Under åren 2008 och 2009 inkom fler klagomål till Finansinspektionen och Konsumentverket jämfört med tidigare år om att många konsumenter via rådgivning rekommenderats produkter som inte motsvarat den risk de varit beredda att ta eller att information om risken The aftermath of the financial crisis meant that many consumers lost parts of their investments because they had invested their savings in risky financial instruments. Between the years of 2008 and 2009, the Swedish Financial Supervisory Authority, Finansinspektionen, and the Swedish Consumer Agency, Konsumentverket, received more complaints, compared to previous years, regarding financial advisor

Arbetet är utfört åt skogsforskningsstationen Mógilsá som ligger strax norr om Reykjavik. Forskningen inom Mógilsá bedrivs inom delar av eller för hela Island med inriktning inom exempelvis dendrokronologi, proveniensförsök, och studier av insekter. Sedan 1900-talets början har inplantering av exotiska trädarter blivit allt vanligare och i en allt större skala. Syften med inplanteringen är bland aThis study was made in an attempt to give the forest research centre Mógilsá a produced tetratherm map and a better understanding of how topography and temperature influence the growth of two tree species. The digital tetratherm map model, covering the northern part of Iceland, was developed to investigate the correlation between tetratherm and the growth of Picea sitchensis and Larix (sukaczewii

Den svenska sexualbrottslagstiftningen har genomgått stora förändringar över åren. Våldtäktsbestämmelsen har på olika sätt utvidgats och tvångskravet har sänkts med tiden. Syftet har delvis varit att förstärka och tydliggöra rätten till sexuellt självbestämmande och sexuell integritet. Detta är två begrepp som har varit återkommande i sexualbrottslagstiftningen under senare år. Trots detta har tvåThe Swedish legislation on sexual offences has been subject to major changes over the years. The provision of rape has in various ways been extended and the coercion requirement has been reduced over time. The purpose of the changes has partly been to strengthen and clarify the sexual integrity and self-determination – two concepts that have been recurring in the legislation on sexual offences in

Att Söka efter Higgs-Bosonen Den dittills oupptäckta Higgs-bosonen upptäcktes förra året på CERN i Schweiz. Denna partikel har en central roll i partikelfysiken, och var därför oerhört viktig att upptäcka. Då den lever väldigt kort tid går den inte att detektera direkt. Detta arbete söker finna massan hos Higgs-bosonen, och använder sig då av fallet då den sönderfaller till fyra myoner. Higgs-bosoAbstract Within the Standard Model of particle physics, there was only one undiscovered fundamental particle. This was the Higgs boson. In July 2012, the announcement was made that a Higgs like particle had been discovered by the ATLAS Collaboration and the CMS Collaboration at CERN. The aim of this Bachelor’s thesis was to use data collected by the ATLAS detector facility to estimate the mass of