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Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F." Am. J. Med. Genet. A. 2015;167:1597-1600 ."
Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies." PLoS ONE. 2014;9(12):e116176."
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family." Molecular Genetics & Genomic Medicine. 2014;2:124-133."