Search Results - Styren, Katie

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  1. 1
    Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK–neurexin interaction

    Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK–neurexin interaction by LaConte, Leslie E. W., Chavan, Vrushali, Elias, Abdallah F., Hudson, Cynthia, Schwanke, Corbin, Styren, Katie, Shoof, Jonathan, Kok, Fernando, Srivastava, Sarika, Mukherjee, Konark

    Published in Human genetics
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  2. 2
    Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

    Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease by Friederich, Marisa W., Elias, Abdallah F., Kuster, Alice, Laugwitz, Lucia, Larson, Austin A., Landry, Aaron P., Ellwood‐Digel, Logan, Mirsky, David M., Dimmock, David, Haven, Jaclyn, Jiang, Hua, MacLean, Kenneth N., Styren, Katie, Schoof, Jonathan, Goujon, Louise, Lefrancois, Thomas, Friederich, Maike, Coughlin, Curtis R., Banerjee, Ruma, Haack, Tobias B., Van Hove, Johan L. K.

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    Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

    Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome by Johnson, John P., Beischel, Linda, Schwanke, Corbin, Styren, Katie, Crunk, Amy, Schoof, Jonathan, Elias, Abdallah F.

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