Author

Lee Ni‐Chung

Observed name: Ni-Chung Lee

Institutions: National Taiwan University, National Taiwan University Hospital

Observed institutions: National Taiwan University, National Taiwan University Hospital

ORCID: 0000-0002-5011-7499

Observed ORCID: 0000-0002-5011-7499

OpenAlex ID: A5040989031

Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review

2026 · Tzu-Hsuan Su, Ni-Chung Lee, et al. · Journal of Clinical Immunology · 2

Genetic testing for adult-onset neurodegenerative diseases: A clinical perspective

2026 · Ni-Chung Lee, Chin-Hsien Lin, et al. · Journal of the Formosan Medical Association · 2

Follow-up of Taiwanese males with high risk of classic Fabry disease via newborn screening

2026 · Hui-An Chen, Nai-Qi Chen, et al. · Molecular Genetics and Metabolism

P278: Molecular newborn screening uncovers hypophosphatasia in family members

2026 · Rai-hseng Hsu, Yi-Chen Huang, et al. · Genetics in Medicine Open

P662: Optimization of next-generation sequencing library preparation workflows through automation

2026 · Yun-Syuan Lin, Chao-Szu Wu, et al. · Genetics in Medicine Open

Simultaneous detection of small and large variants enhances the diagnosis of rare diseases using full genome sequencing

2025 · Meng-Ju Melody Tsai, Hsiao-Jung Kao, et al. · Human Molecular Genetics

Clinical presentations and genetic variants of biotinidase deficiency in eight Sri Lankan children: A case series

2024 · Thilini Premadasa, Ni-Chung Lee, et al. · Ceylon Medical Journal

芳香族l‐アミノ酸デカルボキシラーゼ(aadc)欠損症に対する遺伝子療法

2016 · Hwu Wuh‐Liang, Lee Ni‐Chung, et al. · 日本人類遺伝学会大会プログラム・抄録集

Works count: 8

Citation count: 4

H-index: 2

I10-index: