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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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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

Epilepsia, June 2016, Vol.57(6), pp.994-1003 [Peer Reviewed Journal]

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Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.

American journal of medical genetics. Part A, November 1, 2008, Vol.146A(21), pp.2762-2769 [Peer Reviewed Journal]

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Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Epilepsy Research, 2007, Vol.76(1), pp.41-48 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Picard, Fabienne
  2. Leguern, Eric
  3. Baulac, Michel
  4. Baulac, Stéphanie
  5. Sautarel, Michel

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