• A child with branchio-oto-renal spectrum disorder carrying an SIX1 variant
• A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review
• A new point mutation (D1158N) in histidine kinase Bos1 confers high-level resistance to fludioxonil in field gray mold disease
• A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency
• A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling
• An infant with congenital heart defects and proteinuria: a case report
• Body Composition in Early Pubescent Children with Obesity: Effects Following 1 Year of Non-Intervention
• Body composition in early pubescent children with obesity: effects following 1 year of nonintervention
• Branchio-oto-renal syndrome or branchio-oto syndrome: the clinical and genetic analysis in five Chinese families
• Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome
• Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants
• CRISPR-based editing strategies to rectify <em>EYA1</em> complex genomic rearrangement linked to haploinsufficiency
• Dysfunction of programmed embryo senescence is linked to genetic developmental defects
• Embryology, Pharyngeal Pouch
• Embryology, Pharyngeal Pouch
• From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report
• Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea
• Identification and functional study of enhancers of EYA1, the causative gene of branchio-oto-renal syndrome
• Kidney surface development in human fetuses: study applied to radiological diagnosis
• Membranous Labyrinth Dysplasia in Branchio-Oto-Renal Syndrome
• Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases
• Molecular Genetic Etiology and Revisiting the Middle Ear Surgery Outcomes of Branchio-Oto-Renal Syndrome: Experience in a Tertiary Referral Center
• Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
• Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea
• Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report
• Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies
• Shared features in ear and kidney development - implications for oto-renal syndromes
• The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns
• The interconnected relationships between middle ear bulla size, cavitation defects, and chronic otitis media revealed in a syndromic mouse model
• Transcriptomic analysis reveals the role of SIX1 in mouse cranial neural crest patterning and bone development
• UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate
• Use of lacosamide for focal epilepsy in a child with kidney failure undergoing peritoneal dialysis
• Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes