2 Result(s)
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Felix Distelmaier
Human Genetics
Medicine/Public Health, general
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Article
Open AccessClinical implementation of RNA sequencing for Mendelian disease diagnostics
Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing ...
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Article
Open AccessChallenges of palliative care in children with inborn metabolic diseases
Our objective was to evaluate children with metabolic diseases in paediatric palliative home care (PPC) and the process of decision-making. This study was conducted as single-centre retrospective cohort study ...
