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Sökning: WFRF:(Fodstad Heidi)

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  • Johansson, Maritha, Fil dr, 1972-, et al. (författare)
  • Literature education in Nordic L1s: Cultural models of national lower-secondary curricula in Denmark, Finland, Norway and Sweden
  • 2020
  • Ingår i: L1-Educational Studies in Language and Literature. - : Springer. - 1567-6617 .- 1573-1731. ; 20, s. 1-32
  • Tidskriftsartikel (refereegranskat)abstract
    • This study aims to shed light on the cultural models of literature and literature education reflected in Nordic L1 curricula by investigating how literature is given discursive significance in the Danish, Finnish, Norwegian and Swedish L1 curricula for lower-secondary school, both within and across those four countries. Education in the Nordic countries is a field well suited for comparative analysis as the languages used are closely related and the countries’ educational systems and policies are similar. In the study, we discuss how literary texts are given significance compared with other texts and what purposes of literature education are given a prominent place in the L1 curricula. The theoretical framework used derives from Gee’s (2014) description of cultural models; we understand the national curricula as linguistically created realms of reality. The comparative analysis suggests that there are similar tendencies as well as distinct national differences. Prominent cultural models identified across the countries are a double position of literary texts and a high expectation on literature education. The study points to a need to discuss the status and purpose of literary texts in the Nordic L1 subjects in order to promote further mutual understanding and inspiration across borders.
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  • Savarese, Marco, et al. (författare)
  • Genotype-phenotype correlations in recessive titinopathies.
  • 2020
  • Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 22:12, s. 2029-2040
  • Tidskriftsartikel (refereegranskat)abstract
    • PURPOSE: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate genotype-phenotype correlations in this cohort.METHODS: We analyzed clinical and genetic data in a cohort of patients with biallelic pathogenic or likely pathogenic TTN variants. The cohort included both previously reported cases (100 patients from 81 unrelated families) and unreported cases (23 patients from 20 unrelated families).RESULTS: Overall, 132 causative variants were identified in cohort members. More than half of the cases had hypotonia at birth or muscle weakness and a delayed motor development within the first 12 months of life (congenital myopathy) with causative variants located along the entire gene. The remaining patients had a distal or proximal phenotype and a childhood or later (noncongenital) onset. All noncongenital cases had at least one pathogenic variant in one of the final three TTN exons (362-364).CONCLUSION: Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.
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