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List of works by Nereida Bravo-Gil

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family

scientific article

Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies

scientific article

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel

scientific article

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

scientific article

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F

scientific article published on 30 March 2015

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases

scientific article published on 03 February 2017

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