Showing 1 - 16 results of 16 for search 'Ni-Chung Lee', query time: 0.02s Refine Results
  1. 1
    The incorporation of next-generation sequencing into pediatric care

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

    Published 2023-02-01
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  2. 2
    Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

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

    Published 2013-08-01
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  3. 3
    Congenital Malformations in Newborns—A Challenge Unmet for Decades

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

    Published 2015-02-01
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  4. 4
    Genetic testing confirmed osteopetrosis with initial presentation of nystagmus

    Genetic testing confirmed osteopetrosis with initial presentation of nystagmus by Kai-Yen Chiu, Yu-Yang Lin, Yao-Lin Liu, Ni-Chung Lee, Tzu-Hsun Tsai

    Published 2023-04-01
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  5. 5
    Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutation

    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
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  6. 6
    Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy

    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
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  7. 7
    Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report

    Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report by Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Wang-Tso Lee, Yin-Hsiu Chien

    Published 2024-12-01
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  8. 8
    Glycogen Storage Disease Type Ib: The First Case in Taiwan

    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

    Published 2009-06-01
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  9. 9
    Prevalence of ophthalmic abnormalities and refractive changes in Taiwanese children with Down syndrome.

    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

    Published 2025-01-01
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  10. 10
    Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy

    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

    Published 2008-08-01
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  11. 11
    Cyclic Pamidronate Infusion for Neonatal-onset Osteogenesis Imperfecta

    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

    Published 2014-08-01
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  12. 12
    Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis

    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

    Published 2025-06-01
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  13. 13
    Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis

    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

    Published 2025-03-01
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  14. 14
    Etiologies and long-term outcome of pediatric hemophagocytic lymphohistiocytosis and macrophage activation syndrome in Taiwan: a single-center retrospective study

    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

    Published 2025-07-01
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  15. 15
    A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child

    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

    Published 2012-08-01
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  16. 16
    Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia

    Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia by Meng-Ju Melody Tsai, Meng-Ju Melody Tsai, Hsiao-Jung Kao, Hsiao-Huei Chen, Chih-Hsiang Yu, Yin-Hsiu Chien, Wuh-Liang Hwu, Wuh-Liang Hwu, Wuh-Liang Hwu, Pui-Yan Kwok, Pui-Yan Kwok, Pui-Yan Kwok, Ni-Chung Lee, Yung-Li Yang, Yung-Li Yang, Yung-Li Yang

    Published 2025-04-01
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