Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
Gherasim C et al.
Biochimie, 2013
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
Miousse IR et al.
The Journal of Pediatrics, 2009
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