Congenital Malformations in Newborns—A Challenge Unmet for Decades by Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu

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Glycogen Storage Disease Type Ib: The First Case in Taiwan by Hui-Ju Hsiao, Hsiu-Hao Chang, Wuh-Liang Hwu, Ching-Wan Lam, Ni-Chung Lee, Yin-Hsiu Chien

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Prevalence of ophthalmic abnormalities and refractive changes in Taiwanese children with Down syndrome. by Chia-Ping Chen, Tzu-Hsun Tsai, Yao-Lin Liu, Ni-Chung Lee, Che-Ning Yang, Chao-Wen Lin

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Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy by Shi-Bing Wang, Wen-Chin Weng, Ni-Chung Lee, Wuh-Liang Hwu, Pi-Chuan Fan, Wang-Tso Lee

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Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis by Hsiao‐Jung Kao, Elin H. F. Wang, Erh‐Chan Yeh, Hsiao‐Huei Chen, Feng‐Jen Hsieh, Tsang‐Ming Ko, Wuh‐Liang Hwu, Pui‐Yan Kwok, Ni‐Chung Lee

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Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis by Meng-Ju Melody Tsai, Jung-Chi Chang, Heng-Yu Lu, Susan Shur-Fen Gau, Yin-Hsiu Chien, Wuh-Liang Hwu, Yen-Hsuan Ni, Huey-Ling Chen, Ni-Chung Lee

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Etiologies and long-term outcome of pediatric hemophagocytic lymphohistiocytosis and macrophage activation syndrome in Taiwan: a single-center retrospective study by Ching-Yu Wang, Jyh-Hong Lee, Ni-Chung Lee, Ya-Chiao Hu, Hsiu-Hao Chang, Li-Chieh Wang, Yu-Tsan Lin, Yao-Hsu Yang, Bor-Luen Chiang, Bor-Luen Chiang, Hsin-Hui Yu

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A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child by Hsin-Ming Liu, Li-Ping Tsai, Yin-Hsiu Chien, Jia-Feng Wu, Wen-Chin Weng, Shinn-Forng Peng, En-Ting Wu, Pei-Hsin Huang, Wang-Tso Lee, I-Jun Tsai, Wuh-Liang Hwu, Ni-Chung Lee

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