Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure

Primary ciliary dyskinesia, an orphan disease

(2012) Mieke Boon et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

(2012) Ewa Ziętkiewicz et al.   PLoS One

Educational paper

(2011) Carsten Bergmann   EUROPEAN JOURNAL OF PEDIATRICS

Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required

(2011) C. O'Callaghan et al.   EUROPEAN RESPIRATORY JOURNAL

Lung Function in Patients with Primary Ciliary Dyskinesia

(2010) June K. Marthin et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

(2010) C. E. Kuehni et al.   EUROPEAN RESPIRATORY JOURNAL

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

(2009) Victoria H. Castleman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic Testing of Patients Suspected of Primary Ciliary Dyskinesia

(2009) Wendy A. Stannard et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

(2009) A. Barbato et al.   EUROPEAN RESPIRATORY JOURNAL

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

(2009) J. F. Papon et al.   EUROPEAN RESPIRATORY JOURNAL