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    Publication Type: Research

    5

    The growing needs of genetic counselling – Feasibility in utilization of tele-genetic counselling in Asia and Hong Kong

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

    INSurVeyor: improving insertion calling from short read sequencing data

    Marketing and publicity strategies for launching the pilot phase of the Hong Kong Genome Project

    A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 years

    Rare disease emerging as a global public health priority

    Potentials and challenges of launching the pilot phase of Hong Kong Genome Project

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