The incorporation of next-generation sequencing into pediatric care

by Ni-Chung Lee
Published 2023-02-01

Congenital Malformations in Newborns—A Challenge Unmet for Decades

by Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Published 2015-02-01

Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene

by Sung-Pin Fan, Ni-Chung Lee, Chin-Hsien Lin
Published 2020-01-01

Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

by Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee
Published 2013-08-01

PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports

by Yu-Ming Chang, Chih-Chia Chen, Chih-Chia Chen, Ni-Chung Lee, Ni-Chung Lee, Junne-Ming Sung, Yen-Yin Chou, Yuan-Yow Chiou, Yuan-Yow Chiou
Published 2022-01-01

Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia

by Chia-Chieh Hsiao, Ni-Chung Lee, Pei-Hsin Huang, Tzu-Hsun Tsai
Published 2016-11-01

Reply to: “Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions”

by Chia-Chieh Hsiao, Ni-Chung Lee, Chao-Wen Lin, Tzu-Hsun Tsai
Published 2017-10-01

Russell–Silver syndrome presenting with ambiguous genitalia

by I-Fan Chang, Yin-Hsiu Chien, Wen-Yu Tsai, Ni-Chung Lee
Published 2017-08-01

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy

by Hui-An Chen, Hui-An Chen, Hui-An Chen, Rai-Hseng Hsu, Rai-Hseng Hsu, Rai-Hseng Hsu, Ching-Ya Fang, Ankit K. Desai, Ni-Chung Lee, Ni-Chung Lee, Ni-Chung Lee, Wuh-Liang Hwu, Wuh-Liang Hwu, Wuh-Liang Hwu, Fuu-Jen Tsai, Priya S. Kishnani, Yin-Hsiu Chien, Yin-Hsiu Chien, Yin-Hsiu Chien
Published 2024-04-01

UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis

by Chun-Hua Liao, Ni-Chung Lee, Shiann-Tarng Jou, Bor-Luen Chiang, Hsin-Hui Yu
Published 2020-12-01

Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome

by Tsung-Ying Ou, Meng-Che Tsai, Pao-Lin Kuo, Ni-Chung Lee, Yen-Yin Chou
Published 2022-05-01

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

by Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee, Wuh-Liang Hwu
Published 2020-04-01

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

by Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin
Published 2019-10-01

Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutation

by Jeng-Hung Wu, Yu-Jui Wang, Jau-Yu Liau, Ni-Chung Lee, En-Ting Wu
Published 2023-07-01

Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review

by Meng-Ju Melody Tsai, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Yi-Ching Tung
Published 2022-04-01

Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation

by Tzu-Hsuan Su, Ni-Chung Lee, Chao-Szu Wu, Steven Shinn-Forng Peng, Pi-Chuan Fan
Published 2022-11-01

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome

by Han-Yi Lin, Wen-Yu Tsai, Yi-Ching Tung, Shih-Yao Liu, Ni-Chung Lee, Ni-Chung Lee, Yin-Hsiu Chien, Yin-Hsiu Chien, Wuh-Liang Hwu, Wuh-Liang Hwu, Cheng-Ting Lee, Cheng-Ting Lee
Published 2022-03-01

P838: Spectrum of short tandem repeats in Taiwanese population

by Ching Hsu, Ming-Wei Hung, I-Lin Lin, Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee
Published 2024-01-01

Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy

by Rai-Hseng Hsu, Ni-Chung Lee, Ming-Tai Lin, Ting-An Yen, Yin-Hsiu Chien, Wuh-Liang Hwu
Published 2023-01-01

Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency

by Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Tung-Ming Chang, Yin-Hsiu Chien
Published 2023-11-01