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Research Interests

Papers共 247 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
Tamar Harel, Camille Spicher, Elisabeth Scheer,Jillian G Buchan, Jennifer Cech,Chiara Folland,Tanja Frey, Alexander M Holtz,A Micheil Innes, Boris Keren,William L Macken,Carlo Marcelis,
Brain : a journal of neurology (2024)
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Insights from the hereditary endocrine clinic
A. Micheil Innes, Paulien van Galen
AMERICAN JOURNAL OF SURGERY (2024): 203-204
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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Maolei Gong, Jiayi Li,Yijun Liu, Matheus Vernet Machado Bressan Wilke,Qian Li,Haoran Liu,Chen Liang, Joel A Morales-Rosado,Ana S.A. Cohen,Susan S. Hughes,Bonnie R. Sullivan, Valerie Waddell,
medrxiv（2024）
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P295: Expanding the prenatal phenotype of a rare syndrome due to variants in DPH1
Emily Dunn, Carly Smith,Catrina Loucks,A. Micheil Innes, Dena Matalon
Genetics in Medicine Open (2024): 101191
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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Maolei Gong, Jiayi Li,Yijun Liu, Vernet Machado Bressan Wilk Matheus,Qian Li,Haoran Liu,Chen Liang, Morales-Rosado Joel A,Ana S.A. Cohen,Susan S. Hughes,Bonnie R Sullivan, Valerie Waddell,
crossref（2024）
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