Search Results - Owens, Martina M.

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  1. 1
    Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1

    Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1 by Caswell, Richard C, Owens, Martina M, Gunning, Adam C, Ellard, Sian, Wright, Caroline F

    Published 2019
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  2. 2
    Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

    Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory by Caswell, Richard C., Gunning, Adam C., Owens, Martina M., Ellard, Sian, Wright, Caroline F.

    Published 2022
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  3. 3
    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features by Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

    Published 2017
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