Showing 1 - 3 results of 3 for search 'Alberto Fernández‐Jaén', query time: 0.01s
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Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1 by Jiraporn Ousingsawat, Khaoula Talbi, Hilario Gómez-Martín, Anne Koy, Alberto Fernández-Jaén, Hasan Tekgül, Esra Serdaroğlu, Juan Darío Ortigoza-Escobar, Rainer Schreiber, Karl Kunzelmann
Published 2025-01-01Get full text
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Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case by Mar Jiménez de laPeña, Sara López‐Martín, Daniel Martín Fernández‐Mayoralas, Ana Laura Fernández‐Perrone, Ana Jiménez de Domingo, Pilar Tirado, Beatriz Calleja‐Pérez, Sara Álvarez, Jacobo Albert, Alberto Fernández‐Jaén
Published 2025-02-01Get full text
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Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders by Jihoon G. Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Jaeso Cho, Minji Kim, Jiye Han, Hyounji Yun, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim, Anna Cho, Jin Sook Lee, Murim Choi, Alberto Fernandez-Jaen, Sebastian Silva, Reinaldo Uribe-San-Martín, Christian Cantillano, Noriko Miyake, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Ki-Jun Yoon, Jong-Hee Chae
Published 2025-08-01Get full text
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