Search Results - Ni-Chung Lee

The incorporation of next-generation sequencing into pediatric care by Ni-Chung Lee

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Pompe Disease: Early Diagnosis and Early Treatment Make a Difference by Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee

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

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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

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Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar h... by Chin-Chieh Hsu, Ni-Chung Lee, Yin-Hsiu Chien, Chao-Fan Liu, Yao-Lung Chang

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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

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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

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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

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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

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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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Novel Compound Heterozygous Variants in <i>TBCD</i> Gene Associated with Infantile Neurodegenerative Encephalopathy by Chih-Ling Chen, Chien-Nan Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Tung-Ming Chang, Ni-Chung Lee

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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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Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease by Shu-Chuan Chiang, Pin-Wen Chen, Wuh-Liang Hwu, An-Ju Lee, Li-Chu Chen, Ni-Chung Lee, Li-Yan Chiou, Yin-Hsiu Chien

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Cyclic Pamidronate Infusion for Neonatal-onset Osteogenesis Imperfecta by Chia-Hsuan Lin, Yin-Hsiu Chien, Shinn-Forng Peng, Wen-Yu Tsai, Yi-Ching Tung, Cheng-Ting Lee, Chun-Ching Chien, Wuh-Liang Hwu, Ni-Chung Lee

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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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