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Results: 2
Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
Authors: Malan, Valérie Rajan, Diana Thomas, Sophie Shaw, Adam C. Cormier-Daire, Valérie
Citation: Malan, Valérie et al., Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 189-198
TCTN3 Mutations Cause Mohr-Majewski Syndrome
Authors: Thomas, Sophie Legendre, Marine Saunier, Sophie
Citation: Thomas, Sophie et al., TCTN3 Mutations Cause Mohr-Majewski Syndrome, American journal of human genetics (Online) AJHG , 91(2), 2012, pp. 372-378
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