Browsing Doctoral Theses / Doktorsavhandlingar Institutionen för kliniska vetenskaper by Subject "whole exome sequencing"
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Genotypic and phenotypic spectrum of mitochondrial diseases with focus on early onset mitochondrial encephalopathies
(2014-10-07)Early-onset mitochondrial encephalopathies comprise a challenging group of neurodegenerative disorders. This is due to their progressive nature, often leading to major disability and premature death, as well as their ...