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An Intronic Heterozygous <i>SYNE2</i> Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia? by Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou
Published 2024-03-01
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Culturing Keratinocytes on Biomimetic Substrates Facilitates Improved Epidermal Assembly In Vitro by Eve Hunter-Featherstone, Natalie Young, Kathryn Chamberlain, Pablo Cubillas, Ben Hulette, Xingtao Wei, Jay P. Tiesman, Charles C. Bascom, Adam M. Benham, Martin W. Goldberg, Gabriele Saretzki, Iakowos Karakesisoglou
Published 2021-05-01
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Biallelic <i>SYNE2</i> Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism by Natalie Young, Maria Asif, Matthew Jackson, Daniel Martín Fernández-Mayoralas, Mar Jimenez de la Peña, Beatriz Calleja-Pérez, Sara Álvarez, Eve Hunter-Featherstone, Angelika A. Noegel, Wolfgang Höhne, Peter Nürnberg, Boguslaw Obara, Muhammad Sajid Hussain, Iakowos Karakesisoglou, Alberto Fernández-Jaén
Published 2021-08-01
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