1000 resultados para Congrégation des Filles de la Croix.
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Collection : Les archives de la Révolution française ; 8.873
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Collection : Les archives de la Révolution française ; 8.54
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Référence bibliographique : Rol, 54860
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Référence bibliographique : Rol, 56489
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Référence bibliographique : Rol, 56492
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Référence bibliographique : Rol, 56498
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Référence bibliographique : Rol, 56500
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Référence bibliographique : Rol, 56526
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Collection : Petite encyclopédie juridique ; 30
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PURPOSE: Phenotypic, genetic and molecular characterization of 69 index patients with retinitis pigmentosa (RP) and various inherited retinal diseases. PATIENTS AND METHOD: patients went through complete ocular examination and blood samples were drawn for mutational screening of three candidate genes: rhodopsin (RHO), peripherin/RDS, and ROM-1. RESULTS: the most frequent type of RP among our population was the autosomal dominant (43.6%). Three RHO mutations were found among the RP patients. A RDS mutation was detected in three unrelated families segregating dominant macular dystrophy. DISCUSSION AND CONCLUSIONS: 18% of the autosomal dominant RP patients presented a RHO mutation; RDS R172W mutation was present in 25% of the dominant macular dystrophies.