Search Results - Simone Race

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  1. 1
    Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada

    Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada by Dean A. Regier, Rosalie Loewen, Brandon Chan, Morgan Ehman, Samantha Pollard, Jan M. Friedman, Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Simone Race, Alison M. Elliott, Nick Dragojlovic, Larry D. Lynd, Deirdre Weymann

    Published 2024
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  2. 2
    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders by Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux‐Dion, Tracy Cartwright, Yanmin Chen, Carrie Costin, Sarah Fehr, Keely Fitzgerald, Emily Fleming, Kimberly Foss, Thoa K. Ha, Gabriele Hildebrand, Denise Horn, Shuxi Liu, Elysa J. Marco, Marie McDonald, Kirsty McWalter, Simone Race, Eric T. Rush, Yue Si, Carol Saunders, Anne Slavotinek, Sylvia Stöckler‐Ipsiroglu, Aida Telegrafi, Isabelle Thiffault, Erin Torti, Anne Chun‐Hui Tsai, Xin Wang, Muhammad Sohail Zafar, Boris Keren, Uwe Kornak, Cornelius F. Boerkoel, Ghayda Mirzaa, Nadja Ehmke

    Published 2019
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  3. 3
    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families by Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia Ruivenkamp, Pedro Mancías, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M.A. van Ravenswaaij‐Arts, Inge B. Mathijssen, Sébastien Levesque, Naomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, M. E. Suzanne Lewis, Simone Race, Laura Stewart, Beverly N. Hay, Andrea M. Lewis, Rita Guerreiro, José Brás, Marcia P. Martins, G Derksen‐Lubsen, E Peeters, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Levinus A. Bok, Gijs W.E. Santen, Christian P. Schaaf

    Published 2016
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