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Céline Derbois

Commissariat à l'énergie atomique et aux énergies alternatives

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Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation

2017 Genes
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A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly

2015 Diabetes
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Specific TGM1 Mutation Profiles in Bathing Suit and Self-Improving Collodion Ichthyoses: Phenotypic and Genotypic Data From 9 Patients With Dynamic Phenotypes of Autosomal Recessive Congenital Ichthyosis

2012 Archives of Dermatology
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PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

2012 Nature Genetics
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