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Research Interests

Papers共 131 篇Author StatisticsCo-AuthorSimilar Experts

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Confirmation and expansion of the phenotype of the TCEAL1 -related neurodevelopmental disorder
Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade,Ulrike Hüffmeier, Melissa Pauly,André Reis, Laurence Faivre, Julien Maraval,Ange-Line Bruel,Frédéric Tran Mau Them,Tobias B. Haack,Ute Grasshoff,
European Journal of Human Geneticsno. 3 (2024): 350-356
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De novo variants in KDM2A cause a syndromic neurodevelopmental disorder - virtual
Konrad Platzer,Eric Anderson,Sukhleen Kour,Deepa Rajan, Senta Schoennagel, Laura-Marie Pilgram,Karen Stals,Deirdre Donnelly, Siobhan O'Sullivan, John Mantovani,Pia Zacher,Nicolas Chatron,
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 8-9
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