Mianne Lee
0000-0002-9004-2284
5 papers found
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Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population
Rubinstein–Taybi syndrome in diverse populations
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome
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