Irina Balikova
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Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
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Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
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Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
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Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
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Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.
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Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility
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Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
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Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease