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Peiying Yang

Nanjing Medical University

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Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population

2021 Frontiers in Genetics
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Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.

2021 Orphanet Journal of Rare Diseases
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Carrier screening and prenatal diagnosis for Spinal Muscular Atrophy in 13 069 Chinese pregnant women.

2020 The Journal of Molecular Diagnostics
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[Analysis of AGR1 gene variants in an infant with early-onset argininemia].

2019 Chinese journal of medical genetics
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