Résultat de recherche

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

Valérie Cormier-Daire

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Myhre syndrome.

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Identification of CANT1 mutations in Desbuquois dysplasia.

Céline Huber, Arnold Munnich, Valérie Cormier-Daire

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Identification of CANT1 mutations in Desbuquois dysplasia.

Céline Huber, Arnold Munnich, Valérie Cormier-Daire

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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

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XYLT1 mutations in Desbuquois dysplasia type 2.

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

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FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

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

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

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

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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

Valérie Cormier-Daire

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Pmid / DOI:

Identification of CANT1 mutations in Desbuquois dysplasia.

Céline Huber, Arnold Munnich, Valérie Cormier-Daire

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Sandrine Marlin, Jean-Laurent CASANOVA , Arnold Munnich, Valérie Cormier-Daire

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WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Céline Huber, Geneviève Baujat, Kim-Hanh Le Quan Sang, Arnold Munnich, Valérie Cormier-Daire

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