Associated Papers
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Rumman N et al.
Erj Open Research, 2023
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
Mabrouk I et al.
Journal of Human Genetics, 2022
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
Zaki MS et al.
European Journal of Human Genetics : Ejhg, 2021
34163010 (PubMed )
Supplement: 41431_2021_910_MOESM3_ESM.xls › Feuil2
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Mani R et al.
Human Mutation, 2020
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
Boaretto F et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
Antony D et al.
Human Mutation, 2013
Select a paper to view details