Showing 1 - 19 results of 19 for search 'Wuh-Liang Hwu', query time: 0.02s Refine Results
  1. 1
    New era in the diagnosis and treatment of pediatric genetic diseases

    New era in the diagnosis and treatment of pediatric genetic diseases by Wuh-Liang Hwu

    Published 2023-02-01
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  2. 2
    The modern face of newborn screening

    The modern face of newborn screening by Yin-Hsiu Chien, Wuh-Liang Hwu

    Published 2023-02-01
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  3. 3
    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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  4. 4
    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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  5. 5
    Occurrence of sotos syndrome and coffin-siris syndrome in a family

    Occurrence of sotos syndrome and coffin-siris syndrome in a family by Hui-An Chen, Nai-Qi Chen, Rai-Hseng Hsu, Wuh-Liang Hwu

    Published 2023-03-01
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  6. 6
    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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  7. 7
    Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer

    Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer by Ying-Cheng Chiang, Hsien-Neng Huang, Kuan-Ting Kuo, Wuh-Liang Hwu, Po-Han Lin

    Published 2025-01-01
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  8. 8
    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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  9. 9
    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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  10. 10
    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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  11. 11
    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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  12. 12
    X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males

    X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males by Szu-Ta Chen, Huey-Ling Chen, Yen-Hsuan Ni, Yin-Hsiu Chien, Yung-Ming Jeng, Mei-Hwei Chang, Wuh-Liang Hwu

    Published 2009-10-01
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  13. 13
    Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease

    Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease by Paul Wuh‐Liang Hwu, Karl Kiening, Irina Anselm, David R Compton, Takeshi Nakajima, Thomas Opladen, Phillip L Pearl, Agathe Roubertie, Thomas Roujeau, Shin‐ichi Muramatsu

    Published 2021-08-01
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  14. 14
    Patient selection considerations for AADC deficiency gene therapy

    Patient selection considerations for AADC deficiency gene therapy by Agathe Roubertie, Irina Anselm, Bruria Ben‐Zeev, Wuh‐Liang Hwu, Ashutosh Kumar, Berrin Monteleone, Shin‐ichi Muramatsu, Vincenzo Leuzzi, Salvador Ibáñez, Scellig Stone, Phillip L. Pearl

    Published 2024-03-01
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  15. 15
    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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  16. 16
    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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  17. 17
    Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with Bayley-III scores and motor milestones

    Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) a... by Wuh-Liang Hwu, Hui-Min Lee, John Devin Peipert, Rongrong Zhang, Christian Werner, J. Rafael Sierra, Thomas O’Connell, Jonathan J. Woolley, Marjorie Crowell, Antonia Wang, Ioannis Tomazos

    Published 2025-02-01
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  18. 18
    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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  19. 19
    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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