Canlyniadau Chwilio - Isabelle Hazart
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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features gan Teresa Santiago‐Sim, Lindsay C. Burrage, Frédéric Ebstein, Mari Tokita, Marcus J. Miller, Weimin Bi, Alicia Braxton, Jill A. Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna Immken, Rebecca O. Littlejohn, Elizabeth Roeder, Bülent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R. Lemke, Orly Elpeleg, Bassam Abu‐Libdeh, Kiely N. James, Jennifer L. Silhavy, Mahmoud Y. Issa, Maha S. Zaki, Joseph G. Gleeson, John R. Seavitt, Mary E. Dickinson, M. Cecilia Ljungberg, Sara Wells, Sara Johnson, Lydia Teboul, Christine M. Eng, Yaping Yang, Peter‐Michael Kloetzel, Jason D. Heaney, Magdalena Walkiewicz, Zaid Afawi, Rudi Balling, Nina Barišić, Stéphanie Baulac, Dana Craiu, Peter De Jonghe, Rosa Guerrero, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Johanna Jähn, Karl Martin Klein, Eric LeGuern, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Arvid Suls, Rikke S. Møller, Pasquale Striano, Yvonne G. Weber, Federico Zara
Cyhoeddwyd 2017Artigo