List of works - Fabienne Barbet - Paulina

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List of works by Fabienne Barbet

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Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

scientific article

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

scientific article

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

scientific article (publication date: December 2002)

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

scientific article published on 01 December 2003

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

scientific article published in October 2002

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

scientific article published in February 2005

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

scientific article published in January 2006