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Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Nature Genetics, 2013, Vol.45(5), p.552 [Peer Reviewed Journal]

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KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Nature Genetics, 2012, Vol.44(4), p.456 [Peer Reviewed Journal]

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Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Nature Genetics, 2008, Vol.41(1), p.106 [Peer Reviewed Journal]

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Nature Genetics, 2009, Vol.41(3), p.359 [Peer Reviewed Journal]

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Insensitivity to anti–Müllerian hormone due to a mutation in the human anti–Müllerian hormone receptor

Nature Genetics, 1995, Vol.11(4), p.382 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Picard, Fabienne
  2. Picard, Arnaud
  3. Ayuso, Carmen
  4. Leguern, Eric
  5. Calvo, Fabien

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