检索结果 - Lauren Mattas

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    Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy

    Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy 由 Shehrazade Dahimène, Leonie von Elsner, Tess Holling, Lauren Mattas, Jess Pickard, Davor Lessel, Kjara S. Pilch, Ivan Kadurin, Wendy S. Pratt, Igor B. Zhulin, Hongzheng Dai, Maja Hempel, Maura Ruzhnikov, Kerstin Kutsche, Annette Dolphin

    出版 2022
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    Artigo
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    EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

    EEFSEC deficiency: A selenopathy with early-onset neurodegeneration 由 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

    出版 2025
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    Artigo
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