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Van Esch, Hilde

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation 220 215 0
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression 83 73 0
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Van Esch, Hilde

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Van Esch, Hilde

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