Hakutulokset - Mandy Ho‐Yin Tsang

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  1. 1
    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 Tekijä 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

    Julkaistu 2019
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  2. 2
    Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

    Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism Tekijä Kit San Yeung, Winnie W. Y. Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Leung, Mandy Ho Yin Tsang, Dingge Ying, Steven Lim Cho Pei, So Lun Lee, Wanling Yang, Brian Hon‐Yin Chung

    Julkaistu 2017
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  3. 3
    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

    A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis Tekijä Jasmine Lee Fong Fung, Mullin H.C. Yu, Shushu Huang, Claudia Ching Yan Chung, Marcus C.Y. Chan, Sander Pajusalu, Christopher Chun Yu Mak, Vivian Chin Chin Hui, Mandy Ho Yin Tsang, Kit San Yeung, Monkol Lek, Brian Hon‐Yin Chung

    Julkaistu 2020
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  4. 4
    Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

    Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) Tekijä Gordon K. C. Leung, Christopher Chun Yu Mak, Jasmine Lee Fong Fung, Wilfred Hing Sang Wong, Mandy Ho Yin Tsang, Mullin H.C. Yu, Steven Lim Cho Pei, Kit San Yeung, Gary Mok, C P Lee, Pui Wah Hui, Mary H.Y. Tang, Kelvin Y.K. Chan, Anthony P. Y. Liu, Wanling Yang, Pak C. Sham, Anita Sik Yau Kan, Brian Hon‐Yin Chung

    Julkaistu 2018
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  5. 5
    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 Tekijä 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

    Julkaistu 2019
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  6. 6
    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 Tekijä 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

    Julkaistu 2020
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  7. 7
    Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

    Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tekijä Guoliang Chai, A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor G Marshall, Patrick M. Gaffney, Klaas J. Wierenga, Brian Hon‐Yin Chung, Mandy Ho‐Yin Tsang, Lynn Pais, Alysia Kern Lovgren, Grace E. VanNoy, Heidi L. Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P. Kalverda, Iain W. Manfield, David Parry, Clare V. Logan, Colin A. Johnson, David T. Bonthron, Elizabeth M. A. Valleley, Mahmoud Y. Issa, Sherif F. Abdel‐Ghafar, Mohamed S. Abdel‐Hamid, Patricia A. Jennings, Maha S. Zaki, Eamonn Sheridan, Joseph G. Gleeson

    Julkaistu 2020
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