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MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

Science (New York, N.Y.), August 26, 2011, Vol.333(6046), pp.1161-1163 [Peer Reviewed Journal]

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ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation (Transcriptional Control in Human Heart Development)

PLoS ONE, 2012, Vol.7(1), p.e30677 [Peer Reviewed Journal]

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Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations

The Journal of biological chemistry, 31 August 2018, Vol.293(35), pp.13604-13615 [Peer Reviewed Journal]

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Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

Journal of Autism and Developmental Disorders, 2018, Vol.48(8), pp.2886-2889 [Peer Reviewed Journal]

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Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial aggregation in schizophrenia spectrum disorders

Schizophrenia Research, July 2018, Vol.197, pp.583-584 [Peer Reviewed Journal]

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Mal nommer les choses.
Misnaming things

La Revue du praticien, January 2018, Vol.68(1), pp.25-26

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Strong medicine for French research. Arnold Munnich interviewed by Declan Butler.

Nature, July 1, 2010, Vol.466(7302), p.20 [Peer Reviewed Journal]

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Casting an eye on the Krebs cycle

Nature Genetics, 2008, Vol.40(10), p.1148 [Peer Reviewed Journal]

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[Misnaming things].

La Revue du praticien, January 2018, Vol.68(1), pp.25-26

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Mitochondrial double-stranded RNA triggers antiviral signalling in humans.

Nature, August 2018, Vol.560(7717), pp.238-242 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Munnich, Arnold
  2. Munnich, A.
  3. Lyonnet, Stanislas
  4. Lyonnet, S
  5. Rötig, Agnès

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