Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.
Arko JJ et al.
The Journal of International Medical Research, 2020
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.
Brown LM et al.
Journal of Inherited Metabolic Disease, 2015
Select a paper to view details