Associated Papers
Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report.
Xu W et al.
Frontiers in Pediatrics, 2025
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
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
Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families.
Wang L et al.
Frontiers in Genetics, 2022
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
34631280 (PubMed )
Supplement: mmc3.xlsx › Tabelle1
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
Pifferi M et al.
Annals of the American Thoracic Society, 2021
33760720 (PubMed )
Supplement: pifferi_data_supplement.pdf
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Fassad MR et al.
Clinical Genetics, 2020
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.
Emiralioğlu N et al.
Pediatric Pulmonology, 2020
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