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3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by DNA mutation analysis. Ultrasound assessment showed a reduction in fetal head circumference from the 75th percentile at 20 weeks' gestation to the 29th perc
We report on the cytogenetic studies, performed in a routine cytogenetic laboratory between 1981 and 1986, on 428 subjects: 291 probands with non‐specific mental retardation, 101 first‐degree relatives of fra(X) positive patients and 36 non‐retarded patients, referred for other reasons. As a rule 50 cells, cultured in folate‐deficient medium were analysed. The results are compared with data collec
Drosophila melanogaster is an important model for antiviral immunity in arthropods, but very few DNA viruses have been described from the family Drosophilidae. This deficiency limits our opportunity to use natural host-pathogen combinations in experimental studies, and may bias our understanding of the Drosophila virome. Here, we report fourteen DNA viruses detected in a metagenomic analysis of 66
Aims: The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure. Methods and results: The consortium currently includes 51 studies from 11 countries, including 68 157 heart failure cases and 949 888 controls, with data on heart failure events and prognosis. All studies collected biological samples and perf
In recent years there has been an increased interest in issues related to wage inequality. This interest originates from a trend in many countries towards increased wage dispersion. According to a variety of theories, the wage distribution both within and between firms can have important effects on individual productivity and firm performance. Predictions from these theories, however, give rise to
Analyzing a panel that matches public firms with worker-level data, we find that managerial entrenchment affects workers' pay. CEOs with more control pay their workers more, but financial incentives through cash flow rights ownership mitigate such behavior. Entrenched CEOs pay more to employees closer to them in the corporate hierarchy, geographically closer to the headquarters, and associated wit
We report results indicating that job turnover is not countercyclical in general but rather reflects the inability of smooth labor adjustment through the use of temporary employment contracts. Service establishments with a high share of temporary employment exhibit acyclical job reallocation, while only permanent jobs within manufacturing are found to be countercyclical.
AbstractThe overall aims of this thesis were to use echocardiography to non-invasively, delineate early structural andfunctional changes following orthotopic heart transplantation (OHT), and to define reference values in the contextof gender and bridging with mechanical circulatory support.Several factors might affect myocardial function in OHT patients rendering the use of normal values fortranst
Static checker frameworks support software developers by automatically discovering bugs that fit general-purpose bug patterns. These frameworks ship with hundreds of detectors for such patterns and allow developers to add custom detectors for their own projects. However, existing frameworks generally encode detectors in imperative specifications, with extensive details of not only what to detect b
BackgroundFetal cardiac magnetic resonance imaging (MRI) improves the diagnosis of congenital heart defects, but is sensitive to fetal motion due to long image acquisition time. This may be overcome with faster image acquisition with low resolution, followed by image enhancement to provide clinically useful images.PurposeTo combine phase-encoding undersampling with super-resolution neural networks
Det här är en vänbok till, av och om Janne Flyghed, professor i kriminologi vid Stockholms universitet. Vi har samlat ett urval av hans texter, tematiserade efter forskningsområde och med introduktioner av bokens redaktörer. Att det är en vänbok i bokstavlig mening understryks av bokens inledande och avlutande kapitel, skrivna av Jannes barn respektive vännen och författaren Björn Larsso
