Associated Papers
Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.
Nguyen TT et al.
Scientific Reports, 2025
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.
Belaramani KM et al.
International Journal of Neonatal Screening, 2024
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang R et al.
Scientific Reports, 2021
Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
Bylstra Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A Case Report: Can Citrin Deficiency Lead to Hepatocellular Carcinoma in Children?
He J et al.
Frontiers in Pediatrics, 2019
Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis.
Huang HY et al.
Chinese Medical Journal, 2016
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2
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