نتائج البحث - Cheuk‐Wing Fung

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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 حسب Ava Kwong, Cheuk‐Wing Fung, Siu Yuen Chan, Virginia Chun‐Nei Wong

    منشور في 2012
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    Artigo
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  2. 2
    Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

    Mitochondrial disorders in children: toward development of small‐molecule treatment strategies حسب Werner J.H. Koopman, Julien Beyrath, Cheuk‐Wing Fung, Saskia Koene, Richard J. Rodenburg, Peter H.G.M. Willems, Jan Smeitink

    منشور في 2016
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    Revisão
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  3. 3
    A fatal case of <i>COQ7</i>‐associated primary coenzyme Q<sub>10</sub> deficiency

    A fatal case of <i>COQ7</i>‐associated primary coenzyme Q<sub>10</sub> deficiency حسب Anna Ka‐Yee Kwong, Annie Ting Gee Chiu, Mandy Ho‐Yin Tsang, Kin‐Shing Lun, Richard J. Rodenburg, Jan Smeitink, Brian Hon‐Yin Chung, Cheuk‐Wing Fung

    منشور في 2019
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    Artigo
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  4. 4
    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency حسب Natalia Juliá‐Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horváth, Thomas Lücke, Cheuk Wing Fung, Suet‐Na Wong, Elisenda Cortès‐Saladelafont, M. Mar Rovira‐Remisa, Yılmaz Yıldız, Saadet Mercimek‐Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung‐Klawitter, Kathrin Jeltsch, Serap Sivri, Sven F. Garbade, Àngels García‐Cazorla, Thomas Opladen

    منشور في 2024
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    Artigo
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  5. 5
    The epileptology of GNB5 encephalopathy

    The epileptology of GNB5 encephalopathy حسب Gemma Poke, Chontelle King, Alison M. Muir, Guillem de Valles‐Ibáñez, Michele Germano, Carolina Fischinger Moura de Souza, Jasmine Lee‐Fong Fung, Brian Hon‐Yin Chung, Cheuk Wing Fung, Cyril Mignot, Adina Iléa, Boris Keren, Anne‐Isabelle Vermersch, Suzanne L. Davis, Thorsten Stanley, Mahendranath Moharir, Pekka Kannus, Zhuo Shao, Natascia Malerba, Giuseppe Merla, Heather C. Mefford, Ingrid E. Scheffer, Lynette G. Sadleir

    منشور في 2019
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  6. 6
    Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

    Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese حسب Mullin H.C. Yu, Mandy Ho-Yin Tsang, Sophie Lai, Matthew Sai-pong Ho, Donald Tse, Brooke Willis, Anna Ka‐Yee Kwong, Yen-Yin Chou, Shuan-Pei Lin, Catarina M. Quinzii, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Pao‐Lin Kuo, C. Chan, Cheung Tsoi, Shuk-Ching Chong, Richard J. Rodenburg, Jan Smeitink, Christopher Chun Yu Mak, Kit San Yeung, Jasmine Lee-Fong Fung, Wendy Lam, Joannie Hui, Ni‐Chung Lee, Cheuk‐Wing Fung, Brian Hon‐Yin Chung

    منشور في 2019
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    Artigo
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  7. 7
    Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

    Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs حسب Claudia Ching Yan Chung, Gordon K. C. Leung, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Mianne Lee, Steven Lim Cho Pei, Mullin H.C. Yu, Vivian Chin Chin Hui, Joshua Chun Ki Chan, Jeffrey Fong Ting Chau, Marcus C.Y. Chan, Mandy Ho‐Yin Tsang, Wilfred Hing Sang Wong, Joanna Y.L. Tung, Kin Shing Lun, Yiu Ki Ng, Cheuk Wing Fung, Mabel Siu Chun Wong, Rosanna Wong, YL Lau, Gcf Chan, So Lun Lee, Kit San Yeung, Brian Hon‐Yin Chung

    منشور في 2020
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    Artigo
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