Resultats de la cerca - Brian Hon‐Yin Chung

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  1. 1
    A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong

    A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong per Desiree M. S. Tse, Brian Hon‐Yin Chung, Annie Chu

    Publicat 2025
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  2. 2
    Rare disease emerging as a global public health priority

    Rare disease emerging as a global public health priority per Claudia Ching Yan Chung, Annie Chu, Brian Hon‐Yin Chung

    Publicat 2022
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  3. 3
    Revealing the role of SPP1+ macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas

    Revealing the role of SPP1+ macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas per Wenshu Tang, Cario W. S. Lo, Wei Ma, Annie Chu, Amy H.Y. Tong, Brian Hon‐Yin Chung

    Publicat 2024
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  4. 4
    Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets

    Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets per Annie Ting Gee Chiu, Claudia Ching Yan Chung, Wilfred Hing Sang Wong, So Lun Lee, Brian Hon‐Yin Chung

    Publicat 2018
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  5. 5
    Metformin is associated with lower hospitalizations, mortality and severe coronavirus infection among elderly medicare minority patients in 8 states in USA

    Metformin is associated with lower hospitalizations, mortality and severe coronavirus infection among elderly medicare minority patients in 8 states in USA per Reyan Ghany, Ana Palacio, Elissa Dawkins, Gordon Chen, Daniel F McCarter, Emancia Forbes, Brian Hon‐Yin Chung, Leonardo Tamariz

    Publicat 2021
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  6. 6
    Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations

    Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations per Claudia Ching Yan Chung, Shirley P.Y. Hue, Nicole Y.T. Ng, Phoenix Hoi Lam Doong, Annie Chu, Brian Hon‐Yin Chung

    Publicat 2023
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  7. 7
    A review on trends in development and translation of omics signatures in cancer

    A review on trends in development and translation of omics signatures in cancer per Wei Ma, Wenshu Tang, Jamie Sui-Lam Kwok, Amy H.Y. Tong, Cario W.S. Lo, Annie Chu, Brian Hon‐Yin Chung

    Publicat 2024
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  8. 8
    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 per 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

    Publicat 2019
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  9. 9
    Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion

    Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion per Kimberly A. Aldinger, Jillene Kogan, Virginia Kimonis, Bridget A. Fernandez, Denise Horn, Eva Klopocki, Brian Hon‐Yin Chung, Annick Toutain, Rosanna Weksberg, Kathleen J. Millen, A. James Barkovich, William B. Dobyns

    Publicat 2012
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  10. 10
    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 per 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

    Publicat 2017
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  11. 11
    Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study

    Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study per Claudia Ching Yan Chung, Nicole Y.T. Ng, Yvette Nga Chung Ng, Adrian C.Y. Lui, Jasmine L.F. Fung, Marcus C.Y. Chan, Wilfred Hing Sang Wong, So Lun Lee, Martín Knapp, Brian Hon‐Yin Chung

    Publicat 2023
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  12. 12
    Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong

    Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong per Anita Sik Yau Kan, Elizabeth T. Lau, Wing‐Fai Tang, Sario S. Y. Chan, Simon C. K. Ding, Kelvin Y.K. Chan, C. P. Lee, Pui Wah Hui, Brian Hon‐Yin Chung, Kwok Leung, Teresa Ma, Wing Cheong Leung, Mary H.Y. Tang

    Publicat 2014
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  13. 13
    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 per 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

    Publicat 2020
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  14. 14
    Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

    Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder per Bridget A. Fernandez, Wendy Roberts, Brian Hon‐Yin Chung, Rosanna Weksberg, M. Stephen Meyn, Peter Szatmari, A. M. Joseph-George, Seonaid Mackay, Kathy Whitten, Barbara Noble, Cathy Vardy, Victoria Crosbie, Sandra Luscombe, E.E. Tucker, Lesley Turner, Christian R. Marshall, Stephen W. Scherer

    Publicat 2009
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  15. 15
    Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

    Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR per Evangelia S. Panagiotou, Carla Sanjurjo Soriano, James A. Poulter, Emma Lord, Denisa Dzulova, Hiroyuki Kondo, Atsushi Hiyoshi, Brian Hon‐Yin Chung, Yoyo W. Y. Chu, Connie Lai, Mark E. Tafoya, Dyah W. Karjosukarso, Rob W.J. Collin, Joanne Topping, Louise Downey, Manir Ali, Chris F. Inglehearn, Carmel Toomes

    Publicat 2017
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  16. 16
    NSD1 mutations generate a genome-wide DNA methylation signature

    NSD1 mutations generate a genome-wide DNA methylation signature per Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Andrei L. Turinsky, Daria Grafodatskaya, Youxi Chen, Ana S.A. Cohen, Lucie Dupuis, Darci T. Butcher, M. Siu, Ho‐Ming Luk, Ivan F. M. Lo, Stephen T.S. Lam, Oana Caluseriu, Dimitri J. Stavropoulos, William Reardon, Roberto Mendoza‐Londono, Michael Brudno, William T. Gibson, David Chitayat, Rosanna Weksberg

    Publicat 2015
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  17. 17
    The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis

    The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis per K. Reilly, S. Sonner, Nicola McCay, Daniel L. Rolnik, Frank Casey, Anna N. Seale, Chris Watson, Anita Sik Yau Kan, Theodora Hei Tung Lai, Brian Hon‐Yin Chung, Karin E. M. Diderich, Malgorzata I. Srebniak, Esther Dempsey, Suzanne Drury, Jessica L. Giordano, Ronald J. Wapner, Mark D. Kilby, Lyn S. Chitty, Fionnuala Mone

    Publicat 2024
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  18. 18
    Practical guidelines for managing adults with 22q11.2 deletion syndrome

    Practical guidelines for managing adults with 22q11.2 deletion syndrome per Wai Lun Alan Fung, Nancy J. Butcher, Gregory Costain, Danielle M. Andrade, Erik Boot, Eva W.C. Chow, Brian Hon‐Yin Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman, Sixto García‐Miñaúr, Susan R. George, Anthony E. Lang, Gabriela M. Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Thérèse van Amelsvoort, Donna M. McDonald‐McGinn, Anne S. Bassett

    Publicat 2015
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  19. 19
    The epileptology of GNB5 encephalopathy

    The epileptology of GNB5 encephalopathy per 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

    Publicat 2019
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  20. 20
    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) per 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

    Publicat 2018
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