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
Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.
Mi XX et al.
Biomed Research International, 2019
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Rodrigues C et al.
Human Mutation, 2015
26377032 (PubMed )
Supplement: supplement_1.pdf
UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.
Skierka JM et al.
The Journal of Pediatrics, 2013
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