Search Results - Josh Willoughby

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    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome

    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome by T. Michael Yates, Pradeep Vasudevan, Kate Chandler, Deirdre E. Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Meena Balasubramanian

    Published 2017
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    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of published literature

    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of publishe... by Meena Balasubramanian, Josh Willoughby, Andrew E. Fry, Astrid Weber, Helen V. Firth, Charu Deshpande, Jonathan Berg, Kate Chandler, Kay Metcalfe, Wayne Lam, Daniela T. Pilz, Susan Tomkins

    Published 2017
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