Ni-Chung Lee
Taiwan Human Genetic Society
213 papers found
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Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutation
Download from doi.orgB-cell Immunodeficiency in a Patient with Pearson Syndrome
Download from link.springer.comA missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
Download from www.nature.comAsymptomatic ASS1 carriers with high blood citrulline levels
Download from onlinelibrary.wiley.comDuchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
Download from link.springer.comComparison of GATK and DeepVariant by trio sequencing
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