Search Results - Lisa Emrick

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    Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study Autoría: Emma R. Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Mark Ramos, Francesco Gavazzi, Stephanie Keller, Keith Van Haren, Ali Fatemi, Florian Eichler, Joshua Bonkowsky, Jamie Fraser, Lisa Emrick, Omar Sherbini, Ashley Hackett, Jeilo Gauna, Dandre Amos, Jordan Goodman, Amena Smith Fine, Amanda Nagy, Seungil Lee, Nicole Page, Johanna Schmidt, Amy Pizzino, Kayla Muirhead, Mariko Bennett, Amy Waldman, Justine Shults, Laura Adang, Robert Grundmeier, Adeline Vanderver

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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    De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder Autoría: Samuel M Bradbrook, Gail Graham, Melissa T. Carter, Maria Kibaek, Christina Fagerberg, Martin J. Larsen, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Marie Vincent, Bertrand Isidor, Stephane Bezieau, Benjamin Cogne, Kathrine Bjørgo, Silja Svanstrøm Amundsen, Thomas Courtin, Lisa Emrick, Jill A. Rosenfeld, Monika Weisz‐Hubshman, Bryan C. Mak, Julian Martinez‐Agosto, Mathilde Heulin, Gilles Morin, Boris Keren, Sacha Schutz, Pauline Monin, Mathilde Pujalte, Louis Januel, Gaetan Lesca, Marie‐Noëlle Bonnet‐Dupeyron Valence, Henri Margot, Jonathan Levy, Emmanuela Iovino, Federica Isidori, Tommaso Pippucci, Francesca Montanari, Lauren Bell, Jennifer Burton, Erin Torti, Ingrid M. Wentzensen, Julien Marcadier

    Published 2025
    Fuente: Wiley Open Access
    Tipo de material: Artículo Open Access
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