Concepedia

Dominika Oziębło

DO

Statistics

Publications

10

Citations

226

H-Index

10

Active since

2015

Affiliations

Institute of Physiology and Pathology of Hearing(Current)

Medical University of Warsaw

Postgraduate School of Molecular Medicine

University of Warsaw

Dominika Oziębło is an author at Institute of Physiology and Pathology of Hearing specializing in clinical genetics, molecular genetics, and genetics.

ORCID

Top concepts

Publications per year

2015–2023

10

Publications

10

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Monika Ołdak, Dominika Oziębło, Agnieszka Pollak et al. · Journal of Translational Medicine · 2017 · 51 citations · Full text

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe

Aneta Ścieżyńska, Dominika Oziębło, Anna M. Ambroziak et al. · Experimental Eye Research · 2015 · 36 citations

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Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement

Dominika Oziębło, J. Pazik, Iwona Stępniak et al. · Genes · 2020 · 30 citations · Full text

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial<i>TCF4</i>mRNA Level

Monika Ołdak, Ewelina Ruszkowska, Monika Udziela et al. · BioMed Research International · 2015 · 27 citations · Full text

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Dominika Oziębło, Anna Sarosiak, Marcin L. Leja et al. · Journal of Translational Medicine · 2019 · 18 citations · Full text

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