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Ni-Chung Lee (N C Lee)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 19

Top Venues

Molecular genetics & genomic medicine

NPJ genomic medicine

JGH open : an open access journal of gastroenterology and hepatology

Orphanet journal of rare diseases

Taiwan Human Genetic Society

National Taiwan University College of Medicine (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Taiwan Human Genetic Society

Taiwan

Board member

Education History

National Taiwan University College of Medicine

Taiwan

PHD :: Clinical Medicine

Publications

Rai-Hseng Hsu, Hui-An Chen, Yin-Hsiu Chien, Paul Wuh-Liang Hwu, Ju-Li Lin, Hui-Ling Weng, Yi-Ting Lin, Yu-Ching Lin, Ni-Chung Lee
Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia. Molecular genetics & genomic medicine (2023)
Meng-Ju Melody Tsai, Miao-Zi Hung, Yi-Lin Lin, Ni-Chung Lee, Yin-Hsiu Chien, Paul Wuh-Liang Hwu
Curated incidence of lysosomal storage diseases from the Taiwan Biobank. NPJ genomic medicine 8 (1) (2023)
Rai-Hseng Hsu, Chen-Hao Lee, Yin-Hsiu Chien, Shuan-Pei Lin, Miao-Zi Hung, Nai-Chi Chen, Yi-Lin Lin, Paul Wuh-Liang Hwu, Ni-Chung Lee
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population. Molecular genetics & genomic medicine (2023)
Wen-Li Lu, Yin-Hsiu Chien, Fuu-Jen Tsai, Wuh-Liang Hwu, Yen-Yin Chou, Shao-Yin Chu, Meng-Ju Li, An-Ju Lee, Chao-Chuan Liao, Chung-Hsing Wang, Ni-Chung Lee
Changing clinical manifestations of Gaucher disease in Taiwan. Orphanet journal of rare diseases 18 (1) (2023)
Chia-Mei Chu, Hsin-Hui Yu, Tsai-Ling Kao, Yi-Hsuan Chen, Hsuan-Hsuan Lu, En-Ting Wu, Yun-Li Yang, Chin-Hsien Lin, Shin-Yu Lin, Meng-Ju Melody Tsai, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Pin Chen, Ni-Chung Lee, Chi-Kang Tseng
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome. NPJ genomic medicine 7 (1) (2022)
Che-Ming Chiang, Yung-Ming Jeng, Ming-Chih Ho, Ming-Wei Lai, Huei-Ying Li, Pei-Lung Chen, Ni-Chung Lee, Jia-Feng Wu, Yu-Chun Chiu, Bang-Yu Liou, Yen-Hsuan Ni, Hong-Yuan Hsu, Mei-Hwei Chang, Huey-Ling Chen
Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course. JGH open : an open access journal of gastroenterology and hepatology 6 (12) (2022)
Che-Ming Chiang, Yung-Ming Jeng, Ming-Chih Ho, Ming-Wei Lai, Huei-Ying Li, Pei-Lung Chen, Ni-Chung Lee, Jia-Feng Wu, Yu-Chun Chiu, Bang-Yu Liou, Yen-Hsuan Ni, Hong-Yuan Hsu, Mei-Hwei Chang, Huey-Ling Chen
Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course. JGH open : an open access journal of gastroenterology and hepatology 6 (12) (2022)
Hui-An Chen, Rai-Hseng Hsu, Kai-Ling Chang, Yi-Chen Huang, Yun-Chen Chiang, Ni-Chung Lee, Wuh-Liang Hwu, Pao-Chin Chiu, Yin-Hsiu Chien
Asymptomatic ASS1 carriers with high blood citrulline levels. Molecular genetics & genomic medicine 10 (9) (2022)
Chien-Yi Lai, I-Jung Tsai, Pao-Chin Chiu, David Benjamin Ascher, Yin-Hsiu Chien, Yu-Hsuan Huang, Yi-Lin Lin, Wuh-Liang Hwu, Ni-Chung Lee
A novel deep intronic variant strongly associates with Alkaptonuria. NPJ genomic medicine 6 (1) (2021)
Frank Shao-Ying Wu, Shao-Ping Weng, Meng-Shun Shen, Pei-Chun Ma, Po-Kuan Wu, Ni-Chung Lee
Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development. Journal of assisted reproduction and genetics 38 (3) (2021)
Yen-Hua Huang, Tzu-Chien Su, Chung-Hsing Wang, Siew-Lee Wong, Yin-Hsiu Chien, Yu-Tai Wang, Wuh-Liang Hwu, Ni-Chung Lee
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients. Scientific data 8 (1) (2021)
Yung-Jhe Yan, Y C Tsai, Mei Lan Ko, Ni-Chung Lee, Jin-Chern Chiou, Mang Ou-Yang
Quantitative examination of early diabetes by light-emitting diodes light-induced pupillary light reflex. The Review of scientific instruments 92 (1) (2021)
Chih-Ling Chen, Chien-Nan Lee, Yin-Hsiu Chien, Paul Wuh-Liang Hwu, Tung-Ming Chang, Ni-Chung Lee
Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy. Children (Basel, Switzerland) 8 (12) (2021)
Karen H Y Wong, Walfred Ma, Chun-Yu Wei, Erh-Chan Yeh, Wan-Jia Lin, Elin H F Wang, Jen-Ping Su, Feng-Jen Hsieh, Hsiao-Jung Kao, Hsiao-Huei Chen, Stephen K Chow, Eleanor Young, Catherine Chu, Annie Poon, Chi-Fan Yang, Dar-Shong Lin, Yu Feng Hu, Jer-Yuarn Wu, Ni-Chung Lee, Wuh-Liang Hwu, Dario Boffelli, David Martin, Ming Xiao, Pui-Yan Kwok
Towards a reference genome that captures global genetic diversity. Nature communications 11 (1) (2020)
Chieh-Wen Kuo, Wuh-Liang Hwu, Yin-Hsiu Chien, Ching Hsu, Miao-Zi Hung, I-Lin Lin, Feipei Lai, Ni-Chung Lee
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes. Molecular genetics & genomic medicine 8 (10) (2020)
Szu-Ju Chen, Bo-Chin Lee, Ni-Chung Lee, Yin-Hsiu Chien, Paul Wuh-Liang Hwu, Chin-Hsien Lin
Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 183 (6) (2020)
Wei-Quan Fang, Wuh-Liang Hwu, Yin-Hsiu Chien, Shieh-Yueh Yang, Jen-Jie Chieh, Lih-Maan Chang, Ai-Chu Huang, Ni-Chung Lee, Ming-Jang Chiu
Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in Down Syndrome. ACS chemical neuroscience 11 (2) (2019)
Chung-Lin Lee, Louis Tan Hock-Cheong Tan, Hsiang-Yu Lin, Paul Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien, Chih-Kuang Chuang, Mei-Hwan Wu, Jou-Kou Wang, Shao-Yin Chu, Ju-Li Lin, Fu-Sung Lo, Pen-Hua Su, Chia-Chi Hsu, Yu-Yuan Ko, Ming-Ren Chen, Hui-Ching Chiu, Shuan-Pei Lin
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. American journal of medical genetics. Part A 182 (2) (2019)
Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang, Ni-Chung Lee
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. Orphanet journal of rare diseases 14 (1) (2019)

Ni-Chung Lee.css-eqlu8i{font-size:small;padding-left:4px;} (N C Lee)

Publication Activity (10 Years)

Top Topics

Top Venues

Ni-Chung Lee (N C Lee)