Search Results - Keren Yosovich

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    EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

    EEFSEC deficiency: A selenopathy with early-onset neurodegeneration by Lucia Laugwitz, Rebecca Buchert, Patricio Olguı́n, Mehrdad A. Estiar, M. Atanasova, Wilson Marques, Jörg Enssle, B. G. Marsden, J. Avilés, Andrés González‐Gutiérrez, Noemí Candia, Marietta Fabiano, Susanne Morlot, Susana Peralta, Alexander Groh, Christian Schillinger, Claudia Kuehn, Linda Sofan, Marc Sturm, Benjamin Bender, Pedro José Tomaselli, Uta Diebold, Amelie J. Mueller, Stephanie Spranger, Maximilian Fuchs, Fernando Freua, Uirá Souto Melo, Lauren Mattas, Setareh Ashtiani, Oksana Suchowersky, Samuel Groeschel, Guy A. Rouleau, Keren Yosovich, Marina Michelson, Z. Leibovitz, Muhammad Bilal, Eyyüp Üçtepe, Ahmet Yeşilyurt, Osman Özdoğan, Tamer Çelik, Ingeborg Krägeloh‐Mann, Olaf Rieß, Hendrik Rosewich, Muhammad Umair, Dorit Lev, Stephan Züchner, Ulrich Schweizer, David S. Lynch, Ziv Gan‐Or, Tobias B. Haack

    Published 2025
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    Artigo
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    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns by Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer

    Published 2020
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