Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK–neurexin interaction
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 (01.03.2018)
Published in Human genetics (01.03.2018)
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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
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.
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome
Johnson, John P., Beischel, Linda, Schwanke, Corbin, Styren, Katie, Crunk, Amy, Schoof, Jonathan, Elias, Abdallah F.
Published in Journal of assisted reproduction and genetics (01.06.2018)
Published in Journal of assisted reproduction and genetics (01.06.2018)
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