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Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

The American Journal of Human Genetics, 2010, Vol.87(2), pp.189-198 [Peer Reviewed Journal]

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Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Human Mutation, Apr 2009, Vol.30(4), pp.669-676 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Colleaux, Laurence
  2. Malan, Valérie
  3. Vekemans, Michel
  4. Munnich, Arnold
  5. Tardieu, Marc

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