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List of works by Karolina Kaminska

A Unique Presentation of Bilateral Chorioretinal Atrophy

scientific article published on 28 October 2022

Anisometropia and asymmetric ABCA4 -related cone-rod dystrophy

scientific article published on 4 July 2022

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

scientific article published on 9 September 2022

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

scientific article published on 8 November 2023

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

c.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1

scholarly article

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