未登录Expanding the Genetic Landscape of ATXN2 Variants Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family扩展ATXN2基因变异的遗传景观:来自阿卡迪亚家族双等位基因三核苷酸重复扩展的见解
Saucier, Jacob; Al-Qadi, Mohammad; Allain, Eric Pierre; Robichaud, Philippe-Pierre; Chamard-Witkowski, Ludivine; Alvarez, Mario; Dion-Cote, Anne-Marie; Richard, Luc; Crapoulet, Nicolas; Ben Amor, Mouna
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收藏Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2
Moffatt, Pierre; Ben Amor, Mouna; Glorieux, Francis H.; Roschger, Paul; Klaushofer, Klaus; Schwartzentruber, Jeremy A.; Paterson, Andrew D.; Hu, Pingzhao; Marshall, Christian; Fahiminiya, Somayyeh; Majewski, Jacek; Beaulieu, Chandree L.; Boycott, Kym. M.; Rauch, Frank
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