Hasil Pencarian - Martin M. C. Chui

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  1. 1
    Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses

    Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses oleh Martin M. C. Chui, Christopher C. Y. Mak, Mullin H. C. Yu, Sandra Y. Y. Wong, Kin‐Shing Lun, Tak‐Cheung Yung, Anna K. Y. Kwong, Pak‐Cheong Chow, Brian H. Y. Chung

    Diterbitkan 2023-02-01
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  2. 2
    O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors*

    O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors* oleh Hannah Klinkhammer, Hellen Lesmann, Shahida Moosa, Alexander Hustinx, Behnam Javanmardi, Jing-Mei Li, Martin M.C. Chui, Christopher C.Y. Mak, Luisa Averdunk, Felix Distelmaier, Brian Hon-Yin Chung, Peter Krawitz, Tzung-Chien Hsieh

    Diterbitkan 2023-01-01
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  3. 3
    Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

    Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept oleh Mianne Lee, Anna K. Y. Kwong, Martin M. C. Chui, Jeffrey F. T. Chau, Christopher C. Y. Mak, Sandy L. K. Au, Hei Man Lo, Kelvin Y. K. Chan, Vicente A. Yépez, Julien Gagneur, Anita S. Y. Kan, Brian H. Y. Chung

    Diterbitkan 2022-12-01
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