Hasil Pencarian - Laurel Wiinikka-Buesser

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  1. 1
    Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

    Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation oleh Grace M. Wang, Lev Prasov, Hayder Al-Hasani, Colin E. R. Marrs, Sahil Tolia, Laurel Wiinikka-Buesser, Julia E. Richards, Brenda L. Bohnsack

    Diterbitkan 2018-01-01
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  2. 2
    Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

    Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. oleh Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov

    Diterbitkan 2019-05-01
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