Résultat de recherche

Search

Refine

Par type de contenu

Par thématique

Par mot clé

Reset

1789 results found for your search

  • SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

    Johanne Dubail, Céline Huber, Jeanne Amiel, Arnold Munnich, Muriel de la Dure-Molla, Valérie Cormier-Daire, Chris Gordon

    Source :

    Nat Commun

    2018 Aug 6

    Pmid / DOI:

    30082715

  • XYLT1 mutations in Desbuquois dysplasia type 2.

    Céline Huber, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire

    Source :

    Am J Hum Genet

    2014 Mar 6

    Pmid / DOI:

    24581741

  • FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

    Céline Huber, Caroline Michot, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

    Source :

    J Med Genet

    2018 Apr 1

    Pmid / DOI:

    29358272

  • Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

    Caroline Michot, Stanislas Lyonnet, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

    Source :

    Eur J Hum Genet

    2018 Nov 1

    Pmid / DOI:

    30006632

  • Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

    Valérie Cormier-Daire

    Source :

    FASEB J

    2019 Feb 1

    Pmid / DOI:

    30303737

  • Myhre syndrome.

    Source :

    Clin Genet

    2014 Jun 1

    Pmid / DOI:

    24580733

  • Identification of CANT1 mutations in Desbuquois dysplasia.

    Céline Huber, Arnold Munnich, Valérie Cormier-Daire

    Source :

    Am J Hum Genet

    2009 Nov 1

    Pmid / DOI:

    19853239

  • Identification of CANT1 mutations in Desbuquois dysplasia.

    Céline Huber, Arnold Munnich, Valérie Cormier-Daire

    Source :

    Am J Hum Genet

    2009 Nov 1

    Pmid / DOI:

    19853239

  • SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

    Johanne Dubail, Céline Huber, Jeanne Amiel, Arnold Munnich, Muriel de la Dure-Molla, Valérie Cormier-Daire, Chris Gordon

    Source :

    Nat Commun

    2018 Aug 6

    Pmid / DOI:

    30082715

  • XYLT1 mutations in Desbuquois dysplasia type 2.

    Céline Huber, Patrick Nitschké, Arnold Munnich, Valérie Cormier-Daire

    Source :

    Am J Hum Genet

    2014 Mar 6

    Pmid / DOI:

    24581741

  • FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

    Céline Huber, Caroline Michot, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

    Source :

    J Med Genet

    2018 Apr 1

    Pmid / DOI:

    29358272

  • Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

    Caroline Michot, Stanislas Lyonnet, Arnold Munnich, Geneviève Baujat, Valérie Cormier-Daire

    Source :

    Eur J Hum Genet

    2018 Nov 1

    Pmid / DOI:

    30006632