Search Results - "Ng, Samuel YL"

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  1. 1
    Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex

    Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex by Ng, Samuel YL, Luk, Ho-Ming, Hau, Edgar WL, Cheng, Shirley SW, Yu, Kris PT, Ho, Stephanie, Mok, Myth TS, Lo, Ivan FM

    Published in European journal of medical genetics (01-10-2022)
    “…Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We performed mutation analyses on 123 Chinese…”
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    Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years

    Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years by Ho, Stephanie KL, Luk, Ho-ming, Ng, Samuel YL, Yu, Kris PT, Cheng, Shirley SW, Ng, Phoebe PY, Mok, Myth TS, Hau, Edgar WL, Lo, Ivan FM

    Published in European journal of medical genetics (01-04-2022)
    “…Neurofibromatosis type 1 (NF1; OMIM #162200) is the commonest multi-systemic neurocutaneous tumour-predisposition disorder. It has an age-related complete…”
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