A longitudinal study characterising a large adult primary ciliary dyskinesia population Source: Eur Respir J 2016; 48: 441-450 Year: 2016
Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association Source: Eur Respir J, 50 (5) 1700314; 10.1183/13993003.00314-2017 Year: 2017
Retrospective study of lung function in a group of patients with primary ciliary dyskinesia Source: Eur Respir J 2001; 18: Suppl. 33, 296s Year: 2001
Primary ciliary dyskinesia: early diagnosis and impact on lung function Source: Eur Respir J 2006; 28: Suppl. 50, 495s Year: 2006
Primary ciliary dyskinesia: phenotypic features of a cohort of patients in Argentina Source: Annual Congress 2008 - Paediatric respiratory epidemiology I: primary ciliary dyskinesia, sleep-disordered breathing, exercise-induced symptoms and rare diseases Year: 2008
A rare genetic mutation in primary ciliary dyskinesia Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases Year: 2017
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia Source: Eur Respir J, 58 (2) 2002359; 10.1183/13993003.02359-2020 Year: 2021
Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia Source: Virtual Congress 2020 – Tip the hat to paediatric bronchology Year: 2020
Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study Source: Eur Respir J, 52 (2) 1801040; 10.1183/13993003.01040-2018 Year: 2018
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia Source: Eur Respir J 2014; 44: 1579-1588 Year: 2014
Differentiation of primary and secondary ciliary dyskinesia with the quantitative analysis of ciliary elements Source: Eur Respir J 2001; 18: Suppl. 33, 191s Year: 2001
The Palestinian primary ciliary dyskinesia (PCD) cohort: clinical, diagnostic and genetic spectrum Source: Virtual Congress 2021 – Causes and consequences of paediatric respiratory diseases Year: 2021
Phenotype–genotype associations in primary ciliary dyskinesia: where do we stand? Source: Eur Respir J, 58 (2) 2100392; 10.1183/13993003.00392-2021 Year: 2021
Correlation of nasal nitric oxide, ciliary beat frequency, ciliary beat pattern and ultrastructural defects in patients referred to a national diagnostic centre for primary ciliary dyskinesia Source: Annual Congress 2008 - Respiratory structure and function Year: 2008
Rare genetic variants in genes with ciliary function underlie non-smoking related COPD Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases Year: 2017
Primary and secondary ciliary dyskinesia: Clinical phenotypes and their correlation with ciliary ultrastructural analysis Source: Annual Congress 2013 –Paediatric bronchology Year: 2013
Characteristics and outcomes of adults with primary ciliary dyskinesia (PCD): an EMBARC/BEAT-PCD analysis Source: Virtual Congress 2021 – Bronchiectasis Year: 2021
Ciliary beating patterns in PCD patients of Greek origin:a four-year experience Source: International Congress 2018 – Orphan diseases in children Year: 2018
Primary ciliary dyskinesia and mild cystic fibrosis: lung structure and function similarities. Source: International Congress 2017 – Paediatric bronchology in clinical practice Year: 2017
Primary ciliary dyskinesia with normal axoneme ultrastructure caused by DNAH11 mutations Source: Eur Respir J 2007; 30: Suppl. 51, 511s Year: 2007