<style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style>

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<style face="normal" font="default" size="100%">A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.</style>

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<style face="normal" font="default" size="100%">Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.</style>

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<style face="normal" font="default" size="100%">Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.</style>

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<style face="normal" font="default" size="100%">Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.</style>

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<style face="normal" font="default" size="100%">Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.</style>

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<style face="normal" font="default" size="100%">Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.</style>