Julia Krootila
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View article: A retrospective longitudinal study of 52 Finnish patients with X‐linked retinoschisis
A retrospective longitudinal study of 52 Finnish patients with X‐linked retinoschisis Open
Purpose To describe clinical characteristics in Finnish patients with X‐linked retinoschisis (XLRS) longitudinally with emphasis on retinal morphology and genotype–phenotype correlations. Methods A retrospective cohort study reviewed medic…
View article: Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa Open
Retinitis pigmentosa (RP) is a group of inherited degenerative retinal disorders affecting more than 1.5 million people worldwide. For 30-50% of individuals with RP, the genetic cause remains unresolved by current clinical diagnostic gene …