Karolina Kaminska

Institute of Molecular and Clinical Ophthalmology Basel

Switzerland

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Articles (10)

Year:

2025

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2025

Year:

2025

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2025

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2025

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2025

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2024

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2024

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2024

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2024

Collaborators (7)

Isabelle Audo

Professor

Université Pierre et Marie Curie

FRANCE

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Ana Belen Iglesias Romero

Institute of Molecular and Clinical Ophthalmology Basel

SWITZERLAND

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Sławomir Teper

Medical University of Silesia

POLAND

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Frauke Coppieters

Associate professor, PI of the TaRGeT lab

Ghent University

BELGIUM

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Carlo Rivolta

Professor of Ophthalmic Genetics

University of Basel

SWITZERLAND

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Joaquim Calado

Universidade de Aveiro

PORTUGAL

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Monika Puzianowska-Kuznicka

Professor

Centre of Postgraduate Medical Education

POLAND

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Karolina Kaminska

Research Interests

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Articles (10)

RetiGene, a comprehensive gene atlas for inherited retinal diseases

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1

Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa

Collaborators (7)

Isabelle Audo

Ana Belen Iglesias Romero

Sławomir Teper

Frauke Coppieters

Carlo Rivolta

Joaquim Calado

Monika Puzianowska-Kuznicka

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