Judith Kroell
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View article: Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications Open
We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants in SCN8A, encoding the voltage-gated Na+ channel Na(v)1.6, with the aim of describing clinical phenotypes relat…
View article: Patterns of paediatric end-of-life care: a chart review across different care settings in Switzerland
Patterns of paediatric end-of-life care: a chart review across different care settings in Switzerland Open
The study provides a wide-ranging overview of current end-of-life care practices in a real-life setting of different healthcare providers. The inclusion of patients with all major diagnoses leading to disease- and prematurity-related child…