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Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

Jean Francois Papon , Isabelle Perrault , Andre Coste , Bruno Louis , Xavier Gerard et al.
Journal of Medical Genetics, 2010, 47 (12), pp.829. ⟨10.1136/jmg.2010.077883⟩
Journal articles hal-00560778v1
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Congenital Microcoria: Clinical Features and Molecular Genetics

Clémentine Angée , Brigitte Nedelec , Elisa Erjavec , Jean-Michel Rozet , Lucas Fares Taie et al.
Genes, 2021, 12 (5), pp.624. ⟨10.3390/genes12050624⟩
Journal articles hal-03239240v1