1. Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings
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2. A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia
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3. Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences
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4. Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure
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5. How to Make a Correct Diagnosis of Primary Ciliary Dyskinesia
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6. Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia
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7. A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations
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8. Clinical and Genetic Analysis of Children with Kartagener Syndrome
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9. A pediatric case of productive cough caused by novel variants in DNAH9
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10. Ependymal ciliary motion and their role in congenital hydrocephalus
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11. Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient
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12. Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia
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13. Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis
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14. Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report
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15. A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia
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16. Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population
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