Zuzanna Bukowy‐Bieryłło

International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)

Amelia Shoemark, Mieke Boon, Christoph Brochhausen et al. · European Respiratory Journal · 2020 · 143 citations · Full text

<i>RPGR</i> mutations might cause reduced orientation of respiratory cilia

Zuzanna Bukowy‐Bieryłło, Ewa Ziętkiewicz, Niki T. Loges et al. · Pediatric Pulmonology · 2012 · 84 citations

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

Ewa Ziętkiewicz, Zuzanna Bukowy‐Bieryłło, Katarzyna Voelkel et al. · PLoS ONE · 2012 · 57 citations · Full text

Biology, Primary Ciliary Dyskinesia, Mendelian Disorder +14

Truncating mutations in exons 20 and 21 of <i>OFD1</i> can cause primary ciliary dyskinesia without associated syndromic symptoms

Zuzanna Bukowy‐Bieryłło, Alicja Rabiasz, M Dabrowski et al. · Journal of Medical Genetics · 2019 · 49 citations

Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia

Zuzanna Bukowy‐Bieryłło, M Dabrowski, Michał Witt et al. · RNA Biology · 2016 · 36 citations · Full text

Lysosomal Storage Disease, Dual Reporter Vectors, Genetics +26