Hasil Pencarian - Anna Ka‐Yee Kwong

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  1. 1
    Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

    Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. oleh Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong

    Diterbitkan 2012-01-01
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  2. 2
    Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.

    Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. oleh Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong

    Diterbitkan 2015-01-01
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  3. 3
    Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

    Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency oleh Anna Ka‐Yee Kwong, Sheila Suet‐Na Wong, Richard J. T. Rodenburg, Jan Smeitink, Godfrey Chi Fung Chan, Cheuk‐Wing Fung

    Diterbitkan 2021-07-01
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  4. 4
    High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

    High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes oleh Anna Ka‐Yee Kwong, Virginia Chun‐Nei Wong, Sheila Suet‐Na Wong, Vanessa Loi‐Yan Chu, Saskia Koene, Jan Smeitink, Cheuk‐Wing Fung

    Diterbitkan 2021-12-01
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  5. 5
    O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis

    O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis oleh Brian Hon-Yin Chung, Anna Ka Yee Kwong, Martin Man Chun Chui, Christopher CY Mak, Ines Scheller, Sheila Suet-Na Wong, Cheuk-Wing Fung, Vicente Yépez

    Diterbitkan 2024-01-01
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  6. 6
    Whole genome sequencing in paediatric channelopathy and cardiomyopathy

    Whole genome sequencing in paediatric channelopathy and cardiomyopathy oleh Sit Yee Kwok, Anna Ka Yee Kwong, Julia Zhuo Shi, Connie Fong Ying Shih, Mianne Lee, Christopher C. Y. Mak, Martin Chui, Sabrina Tsao, Brian Hon Yin Chung

    Diterbitkan 2024-03-01
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  7. 7
    Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation

    Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation oleh Sheng Zhu, Anna Hing Yee Law, Ruixia Deng, Ellen Ngar Yun Poon, Chun Wai Lo, Anna Ka Yee Kwong, Rui Liang, Kelvin Yuen Kwong Chan, Wai Lap Wong, Kian Cheng Tan-Un, W.W.M. Pim Pijnappel, Godfrey Chi Fung Chan, Sophelia Hoi Shan Chan

    Diterbitkan 2020-12-01
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  8. 8
    Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory

    Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory oleh Theodora Hei Tung Lai, Leung Kuen Sandy Au, Yuen Ting Eunice Lau, Hei Man Lo, Kelvin Yuen Kwong Chan, Ka Wang Cheung, Teresa Wei Ling Ma, Wing Cheong Leung, Choi Wah Kong, Wendy Shu, Po Lam So, Anna Ka Yee Kwong, Christopher Chun Yu Mak, Mianne Lee, Martin Man Chun Chui, Brian Hon Yin Chung, Anita Sik Yau Kan

    Diterbitkan 2022-12-01
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  9. 9
    Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis

    Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis oleh Jeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, Mullin Ho Chung Yu, Jasmine Lee Fong Fung, Christopher Chun Yu Mak, Christy Shuk-Kuen Chau, Ka Ka Siu, Jacqueline Hung, Kit San Yeung, Anna Ka Yee Kwong, Christopher O'Callaghan, Yu Lung Lau, Yu Lung Lau, Chun-Wai Davy Lee, Chun-Wai Davy Lee, Brian Hon-Yin Chung, Brian Hon-Yin Chung, Brian Hon-Yin Chung, So-Lun Lee

    Diterbitkan 2022-08-01
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  10. 10
    Exome sequencing in paediatric patients with movement disorders

    Exome sequencing in paediatric patients with movement disorders oleh Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung

    Diterbitkan 2021-01-01
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