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Original Article

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

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Pages 13-25 | Received 13 Mar 2012, Accepted 07 Jun 2012, Published online: 25 Jan 2013

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F. Matonti, S. Roux, D. Denis, S. Picaud & F. Chavane. (2015) Cécité et réhabilitation visuelle. Journal Français d'Ophtalmologie 38:2, pages 93-102.
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Christian P. Hamel. (2014) Gene discovery and prevalence in inherited retinal dystrophies. Comptes Rendus Biologies 337:3, pages 160-166.
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Crossref
Bart P. Leroy. 2014. Inherited Chorioretinal Dystrophies. Inherited Chorioretinal Dystrophies 143 149 .
I. Meunier, G. Lenaers, C. Hamel & S. Defoort-Dhellemmes. (2013) Les neuropathies optiques héréditaires : du signe clinique au diagnostic. Journal Français d'Ophtalmologie 36:10, pages 886-900.
Crossref

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