Search Results - Handisides, Shona

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  1. 1
    Case report: tuberous sclerosis and persistent hyperplastic primary vitreous

    Case report: tuberous sclerosis and persistent hyperplastic primary vitreous by Wong, Hayley, Bowie, Sarah, Handisides, Shona, Escardó-Paton, Julia

    Published in BMC ophthalmology
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    Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

    Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1 by Lehnert, Klaus, Snell, Russell G., Robertson, Stephen P., Love, Donald R., Appelhof, Bart, Hill, Rosamund, Marks, Rosemary, van Dijk, Tessa, Jacobsen, Jessie C., Glamuzina, Emma, Taylor, Juliet, Swan, Brendan, Handisides, Shona, Wilson, Callum, Fietz, Michael

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