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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the

Könsneutralt och delat barnbidrag - i linje med barnets bästa?

Denna uppsats baserar sig på en utredning av Försäkringskassan, som presenterades i maj 2005. Titeln var Utredning om könsneutralt och delat barnbidrag. Försäkringskassan hade fått i uppdrag av regeringen att utreda förutsättningarna för att göra lagstiftningen kring barnbidraget könsneutral och införa en möjlighet för föräldrarna att kunna dela bidraget mellan sig. Den nuvarande barnbidragslagsti

Mattias Kärrholm

Researcher Contact details Email: mattias [dot] karrholm [at] abm [dot] lth [dot] seOrganisation Centre for Advanced Middle Eastern Studies (CMES) Service point: 18 WebpageMattias Kärrholms profile in Lund University research portalOther affiliations Professor Architecture and Culture Profile area member LTH Profile Area: Water Member of Strategic Research Area MECW: The Middle East in the Contemp

https://www.cmes.lu.se/mattias-karrholm - 2026-06-01

The dasyscyphins A similar to C and niveulone, new biologically active compounds from the ascomycete Dasyscyphus niveus

In the course of a screening for cytotoxic Compounds from fungi four new terpenoid metabolites, named dasyscyphins A, B, C, and niveulone were isolated from fermentations of Dasyscyphus niveus strain A0101. While dasyscyphin A (1) exhibited no significant biological activities in our test systems dasyscyphin B (2) and dasyscyphin C (3) showed cytotoxic activities against human (HepG2, Hela S3, U93

En balans mellan individuell autonomi och kollektivt intresse av sekundär användning av e-hälsodata – En analys av EHDS-förordningen samt dess förhållande till rätten till radering

Sekundär användning av e-hälsodata är ett viktigt steg i att direkt och indirekt stärka vården, både inom Sverige och EU. Inom kort förväntas den uppmärksammade EU-förordningen om ett European Health Data Space (EHDS) antas. Genom förordningen kommer ett gemensamt hälsodataområde skapas vilket bland annat möjliggör sekundär användning av uppemot 450 miljoner EU-medborgares e-hälsodata för exempelvSecondary use of e-health data is an important step in directly and indirectly strengthening healthcare, both in Sweden and the EU. The anticipated EU regulation on a European Health Data Space (EHDS) will create a common health data space, allowing for the secondary use of the e-health data of up to 450 million EU citizens for research, innovation and decision-making. This has the potential to re

Ordningslagen och idrottsaktiebolag - en analys av tvångsavgiften och vinstsyftet i 2 kap. 26 § OL

Sammanfattning Enligt ordningslagens (OL) 2 kap. 26 § ska den som anordnar en offentlig tillställning i vinstsyfte åläggas betalningsskyldighet för polismyndighetens bevakning av den. I denna uppsats behandlas bestämmelsen och dess tillämpning på de idrottsföreningar som bedrivs i bolagsform, de s.k. idrottsaktiebolagen. Besluten har varit uppe för överklaganden och diskussion sedan polisen för snSummary Under the provisions of section 2 (26) of the Swedish Public Order Act, the organizer of a profitable public event shall pay a fee to cover the police authority's expenses due to the event. This essay analyses the application of the fee on the so- called sport companies. The decisions have been subjects of appeal and discussion since the police for about three years ago started feeing

La Diada de Catalunya 2012 : En produkt av Het Nationalism eller Banal Katalanism?

Catalonia is a nation with it's own language, its own culture, own policy and own history it is said. A non-independent nation that is living it's ordinary life flagging its banal symbols as if it al ready was an independent state. Some catalanistas assert that this kind of weirdness could be the death row for Catalonia and its future as in independent nation of its own. They state that it

Measuring the wedge of flat optical windows

A novel interferometric technique to measure small wedge angle of transparent windows is proposed. The technique is based on the measurement of the shift of the interference pattern generated by two sheared copies of a laser beam after crossing the optical wedge. A simple lens is used to combine the two beams in their focal plane and measurements are taken for different shears. It is not necessary

Detection of Copy Number Aberration and Tumor Fraction in Archival Cervical Specimens from Ovarian Cancer Patients using Shallow Whole Genome Sequencing.

Ovarian cancer, often called the silent killer due to its diffuse symptoms at early stage, poor prognosis after treatments and high mortality, is also a heterogeneous disease consisting of different histological subtypes with potentially different origins. About 90% of all cases derive from epithelial cells and high-grade serous ovarian carcinoma (HGSOC) is the most common and aggressive form of e

Microsoft Word - CV_JG_21_English

Microsoft Word - CV_JG_21_English 2022-01-11 Current addresses: My homepage at the Department Lund University Centre for languages and literature My homepage at LU Research portal Box 201 SE-221 00 LUND Ragnar Lodbroks gränd 1 SE-224 75 LUND Sweden E-mail: jonas.granfeldt@rom.lu.se Tel: +46-(0)46-222 88 02 (work) 1. Diploma Teacher of Upper Secondary School. Subjects French and Swedish (1997) Lund

https://www.sol.lu.se/media/documents/persons/JonasGranfeldt/CV_Short_Eng_21_2.pdf - 2026-06-01

The engineering designer in the role of a design analyst – An industrial survey

Traditionally, design analysts are solely responsible for all computerbased design analysis (CBDA). CBDA refers to quantitative design analyses utilising computational tools in the engineering design and development of technical solutions. There are currently limited insights into and knowledge of tools and methods needed to facilitate the use of CBDA by engineering designers. In order to gather i

Luvre-1432010vanbemmelenfjallabb

DocHdl1OnPRINTREADYtmpTarget 81 ORNIS SVECICA 20: 81–86, 2010 Abstract Introduction In long-lived, long-distance migrants, immatures may visit future breeding grounds in one or more years before breeding for the first time. Generally, these prospecting visits and breeding commence at a higher age in larger species and species with a higher expected life-span (Becker & Bradley 2007, Weimerskirch 20

https://www.luvre.lu.se/sites/luvre.lu.se/files/luvre-1432010vanbemmelenfjallabb.pdf - 2026-06-02

Vanessa smith

Climate Change- Introduction Lund University International Master´s Programme in Environmental Studies and Sustainable Science DROUGHT MANAGEMENT IN CATALONIA A case study in Riudecanyes and its water basin towards reducing vulnerability to water stress Supervised by: Johanna Alkan Olsson Researcher Lund University Centre for Sustainability Studies +46 (0)46 222 04 20 johanna.alkan_olsson@lucsus.l

https://www.lumes.lu.se/sites/lumes.lu.se/files/vanessa_smith.pdf - 2026-06-02

LL SMMN31 eng HT25 250514

LL_SMMN31_eng_HT25_250514 Reading list for Social Media Marketing (SMMN31), 7,5 credits. The reading list was approved by the Board of the Department of Service Studies 2025-05-14. The reading list is valid from 2025-05-14. Aboelenien, Aya, Baudet, Alex & Chow, Ai. Ming. (2023). ‘You need to change how you consume’: Ethical influencers, their audiences and their linking strategies. Journal of Mark

https://www.ses.lu.se/en/sites/ses.lu.se.en/files/2025-05/LL_SMMN31_eng_HT25_250514.pdf - 2026-06-02

Reaction and strain engineering for improved stereo-selective whole-cell reduction of a bicyclic diketone

Reduction of bicyclo[2.2.2]octane-2,6-dione to (1R, 4S, 6S)-6-hydroxy-bicyclo[2.2.2]octane-2-one by whole cells of Saccharomyces cerevisiae was improved using an engineered recombinant strain and process design. The substrate inhibition followed a Han-Levenspiel model showing an effective concentration window between 12 and 22 g/l, in which the activity was kept above 95%. Yeast growth stage, subs