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21
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[Misnaming things adds to the world's misfortune].

Medecine sciences : M/S, Vol.32(10), pp.795-796

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22
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Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

The Journal of Allergy and Clinical Immunology, December 2017, Vol.140(6), pp.1671-1682.e2 [Peer Reviewed Journal]

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23
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Epithelial barrier dysfunction in desmoglein-1 deficiency

The Journal of Allergy and Clinical Immunology, August 2018, Vol.142(2), pp.702-706.e7 [Peer Reviewed Journal]

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24
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Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

PLoS ONE, 6 May 2013, Vol.8(5) [Peer Reviewed Journal]

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25
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Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model.

The Journal of clinical investigation, May 2, 2016, Vol.126(5), pp.1871-1884 [Peer Reviewed Journal]

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26
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13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion

Clinical Neurophysiology, 2011, Vol.122(1), pp.e5-e6 [Peer Reviewed Journal]

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27
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Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

Clinical case reports, Vol.3(7), pp.604-609 [Peer Reviewed Journal]

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28
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Cover Image, Volume 37, Issue 12

Human Mutation, December 2016, Vol.37(12), pp.i-i [Peer Reviewed Journal]

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High-Throughput Sequencing in the Context of Human Genetic Diseases: Now and Tomorrow

Human Mutation, Dec 2016, Vol.37(12), pp.1247-1247 [Peer Reviewed Journal]

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30
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The 3M syndrome

Best Practice & Research Clinical Endocrinology & Metabolism, 2011, Vol.25(1), pp.143-151 [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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