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
Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder.
De Las Heras J et al.
Journal of Clinical Medicine, 2020
Gene identification for the cblD defect of vitamin B12 metabolism.
Coelho D et al.
The New England Journal of Medicine, 2008
Select a paper to view details