Hasil Pencarian - Ni‐Chung Lee

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  1. 1
    The incorporation of next-generation sequencing into pediatric care

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

    Diterbitkan 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 oleh Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee

    Diterbitkan 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 oleh Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu

    Diterbitkan 2015-02-01
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  4. 4
    Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene

    Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene oleh Sung-Pin Fan, Ni-Chung Lee, Chin-Hsien Lin

    Diterbitkan 2020-01-01
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  5. 5
    PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports

    PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports oleh 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

    Diterbitkan 2022-01-01
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  6. 6
    Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia

    Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia oleh Chia-Chieh Hsiao, Ni-Chung Lee, Pei-Hsin Huang, Tzu-Hsun Tsai

    Diterbitkan 2016-11-01
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  7. 7
    Russell–Silver syndrome presenting with ambiguous genitalia

    Russell–Silver syndrome presenting with ambiguous genitalia oleh I-Fan Chang, Yin-Hsiu Chien, Wen-Yu Tsai, Ni-Chung Lee

    Diterbitkan 2017-08-01
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  8. 8
    Reply to: “Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions”

    Reply to: “Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions” oleh Chia-Chieh Hsiao, Ni-Chung Lee, Chao-Wen Lin, Tzu-Hsun Tsai

    Diterbitkan 2017-10-01
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  9. 9
    Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy

    Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy oleh Hui-An Chen, Hui-An Chen, Hui-An Chen, Rai-Hseng Hsu, Rai-Hseng Hsu, Rai-Hseng Hsu, Ching-Ya Fang, Ankit K. Desai, Ni-Chung Lee, Ni-Chung Lee, Ni-Chung Lee, Wuh-Liang Hwu, Wuh-Liang Hwu, Wuh-Liang Hwu, Fuu-Jen Tsai, Priya S. Kishnani, Yin-Hsiu Chien, Yin-Hsiu Chien, Yin-Hsiu Chien

    Diterbitkan 2024-04-01
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  10. 10
    UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis

    UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis oleh Chun-Hua Liao, Ni-Chung Lee, Shiann-Tarng Jou, Bor-Luen Chiang, Hsin-Hui Yu

    Diterbitkan 2020-12-01
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  11. 11
    Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

    Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population oleh Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin

    Diterbitkan 2019-10-01
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  12. 12
    Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report

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

    Diterbitkan 2024-09-01
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  13. 13
    The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

    The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan oleh Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee, Wuh-Liang Hwu

    Diterbitkan 2020-04-01
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  14. 14
    Genetic testing confirmed osteopetrosis with initial presentation of nystagmus

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

    Diterbitkan 2023-04-01
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  15. 15
    Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome

    Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome oleh Tsung-Ying Ou, Meng-Che Tsai, Pao-Lin Kuo, Ni-Chung Lee, Yen-Yin Chou

    Diterbitkan 2022-05-01
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  16. 16
    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 oleh Jeng-Hung Wu, Yu-Jui Wang, Jau-Yu Liau, Ni-Chung Lee, En-Ting Wu

    Diterbitkan 2023-07-01
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  17. 17
    Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation

    Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation oleh Tzu-Hsuan Su, Ni-Chung Lee, Chao-Szu Wu, Steven Shinn-Forng Peng, Pi-Chuan Fan

    Diterbitkan 2022-11-01
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  18. 18
    Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review

    Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review oleh Meng-Ju Melody Tsai, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Yi-Ching Tung

    Diterbitkan 2022-04-01
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  19. 19
    Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome

    Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome oleh Han-Yi Lin, Wen-Yu Tsai, Yi-Ching Tung, Shih-Yao Liu, Ni-Chung Lee, Ni-Chung Lee, Yin-Hsiu Chien, Yin-Hsiu Chien, Wuh-Liang Hwu, Wuh-Liang Hwu, Cheng-Ting Lee, Cheng-Ting Lee

    Diterbitkan 2022-03-01
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  20. 20
    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 oleh Rai-Hseng Hsu, Ni-Chung Lee, Ming-Tai Lin, Ting-An Yen, Yin-Hsiu Chien, Wuh-Liang Hwu

    Diterbitkan 2023-01-01
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