Associated Papers
Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants.
Hajati R et al.
Bmc Medical Genomics, 2025
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes HA et al.
Journal of Inherited Metabolic Disease, 2020
31828787 (PubMed )
Supplement: JIMD-43-424-s001.pdf
Select a paper to view details