Hasil Pencarian - Huei-Ching Chiu

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  1. 1
    Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan

    Wiedemann–Steiner Syndrome with a Pathogenic Variant in <i>KMT2A</i> from Taiwan oleh Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

    Diterbitkan 2021-10-01
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  2. 2
    The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

    The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature oleh Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

    Diterbitkan 2021-06-01
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  3. 3
    The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature

    The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature oleh Chung-Lin Lee, Chih-Kuang Chuang, Chyong-Hsin Hsu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

    Diterbitkan 2022-03-01
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  4. 4
    Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome

    Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome oleh Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

    Diterbitkan 2022-06-01
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  5. 5
    Genetic and Phenotypic Spectrum of <i>KMT2D</i> Variants in Taiwanese Case Series of Kabuki Syndrome

    Genetic and Phenotypic Spectrum of <i>KMT2D</i> Variants in Taiwanese Case Series of Kabuki Syndrome oleh Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

    Diterbitkan 2024-08-01
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  6. 6
    Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome

    Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome oleh Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

    Diterbitkan 2024-04-01
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  7. 7
    Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan

    Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan oleh Chung-Lin Lee, Chen-Hao Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin

    Diterbitkan 2019-08-01
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  8. 8
    Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan

    Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan oleh Chung-Lin Lee, Chih-Kuang Chuang, Ru-Yi Tu, Huei-Ching Chiu, Yun-Ting Lo, Ya-Hui Chang, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin

    Diterbitkan 2021-12-01
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  9. 9
    Functional independence of Taiwanese patients with mucopolysaccharidoses

    Functional independence of Taiwanese patients with mucopolysaccharidoses oleh Chung‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chia‐Ying Chang, Yu‐Chia Kao, Shuan‐Pei Lin

    Diterbitkan 2019-08-01
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  10. 10
    Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

    Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients oleh Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chih-Kuang Chuang, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin

    Diterbitkan 2024-05-01
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