• <em>TCOF1</em> Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
• A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
• A pediatric case of primary ciliary dyskinesia caused by novel copy number variation in PIH1D3
• Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia
• Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel <em>DRC1</em> Homozygous Exon Deletion in a Patient With Primary Ciliary Dyskinesia
• Cornelia de Lange Syndrome
• DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient
• Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family
• Expression pattern of Stomatin-domain proteins in the peripheral olfactory system
• Familial nasal acilia syndrome
• Familial nasal acilia syndrome
• HIF-1α activates NLRP3 inflammasome to regulate epithelial differentiation in chronic rhinosinusitis
• Hypoxia-inducible factor 1α activates the NLRP3 inflammasome to regulate epithelial differentiation in chronic rhinosinusitis
• Identification of a novel <em>RPGR</em> mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report
• Identification of a novel founder variant in <em>DNAI2</em> cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula
• Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula
• Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report
• Investigation of the Relationship Between Trefoil Factor Family Peptides and Sinonasal Inflammation
• Mapping the Most Common Founder Variant in <em>RSPH9</em> That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs
• Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs
• Next-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel <em>DNAH5</em> Copy Number Variations
• Novel <em>RSPH4A</em> Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families
• Novel pathogenic variants of <em>DNAH5</em> associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population
• Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia-Related Infertility in Three Chinese Families
• Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel <em>RPGR</em> Variant and Possible Modifier Gene
• The cyclic AMP signaling pathway in the rodent main olfactory system
• The odorant metabolizing enzyme UGT2A1: Immunolocalization and impact of the modulation of its activity on the olfactory response
• Three Novel <em>ARID1B</em> Variations in Coffin-Siris Syndrome Patients
• Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype
• Wiedemann-Steiner Syndrome