Sofie Samuelsson

The Weaponization of Free Speech in Populist Discourse

Sofie Samuelsson, Charlotte Lindqvist

Previous research suggests that freedom of speech has become an increasingly debated concept in contemporary politics, particularly within the rise of populist discourse. This thesis asks how left and right populist actors in the United States invoke “free speech” rhetoric in response …

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study

Bianca Tesi, Kristina Lagerstedt‐Robinson, Frida Abel, Teresita Díaz de Ståhl et autres

Background Childhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study …

se (code pays fourni par la source)

Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

Elisabeth Wadensten, Sandra Wessman, Frida Abel, Teresita Díaz de Ståhl et autres

PURPOSE Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such characterization offers clinically actionable data in a prospective broadly inclusive setting remains largely unexplored. …

se (code pays fourni par la source)

Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation

Johanna Elander, Tove Ullmark, Hans Ehrencrona, Tord Jonson et autres

OBJECTIVES: The aim of this study was to investigate genetic outcomes, analyze the family experience, and describe the process of implementing genetic sequencing for children with profound sensorineural hearing loss (SNHL) at a tertial audiological center in southern Sweden. DESIGN: This is …

se (code pays fourni par la source)

ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease

Anders Valind, Pernilla Stenström, Sofie Samuelsson, Tord Jonson et autres

De novo mutations in the gene encoding transcription factor ZMIZ1, located on chromosome 10q22, were recently found to be associated with a novel neurodevelopmental syndrome [1]. In this case report we present a patient with developmental delay and Hirschsprung disease, who carries …

se (code pays fourni par la source)

MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor

Andreea Ilinca, Elisabet M. Englund, Sofie Samuelsson, Katarina Truvé et autres

Objective To describe a possible novel genetic mechanism for cerebral small vessel disease (cSVD) and stroke. Methods We studied a Swedish kindred with ischemic stroke and intracerebral hemorrhage, tremor, dysautonomia, and mild cognitive decline. Members were examined clinically, radiologically, and by histopathology. …

fi, se (code pays fourni par la source)

Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke

Andreea Ilinca, Nicolas Martinez‐Majander, Sofie Samuelsson, Paul Piccinelli et autres

Backgrounds and Purpose— Although new methods for genetic analyses are rapidly evolving, there are currently knowledge gaps in how to detect Mendelian forms of stroke. Methods— We performed whole-exome sequencing in 22 probands, under 56 years at their first ischemic stroke episode, …

se, fi, us (code pays fourni par la source)

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

Henrik Thybo Christesen, Lene Gaarsmand Christensen, Åsa Mattsson Löfgren, Karen Brøndum‐Nielsen et autres

Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. We report of an apparently non-syndromic infant with severe congenital hyperinsulinism (CHI) and diffuse pancreatic labelling by 18F*-DOPA-PET/CT leading to near-total …

dk, se (code pays fourni par la source)

A stroke gene panel for whole-exome sequencing

Andreea Ilinca, Sofie Samuelsson, Paul Piccinelli, Maria Soller et autres

se (code pays fourni par la source)

Connectivity : City Center of Karlskrona and its Closest Districts

Sofie Samuelsson

Interaction Through Culture

Sofie Samuelsson

During my visit in the pottery area Kumbhar Wada in Dharavi, I got conscious about how isolated the older uneducated people in the families are from their children’s education. The Kumbhar Wada area itself is very isolated from the rest of Dharavi …

Slut i kranen? En studie av kontinuitetshantering för dricksvattenbranschen med fokus på nödvatten och standarden BS 25999

Sofie Samuelsson, Josefin Barup

The access to safe drinking water is a basic and critical component of our society. If the drinking water supply system is exposed to disturbances, it is of great importance that water suppliers are able to maintain continuity within the water distribution …