• A case report: nager acrofacial dysostosis
• Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population
• Correlation of Cerebrospinal Fluid Total Protein and Serum Neutrophil-to-Lymphocyte Ratio with Clinical Outcomes of Guillain-Barre Syndrome Variants
• Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome
• Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction
• Dihydroorotate dehydrogenase depletion hampers mitochondrial function and osteogenic differentiation in osteoblasts
• Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine
• Facial dysostoses: Etiology, pathogenesis and management
• Finding disease variants in Mendelian disorders by using sequence data: methods and applications
• Increased microRNA-93-5p inhibits osteogenic differentiation by targeting bone morphogenetic protein-2
• Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
• Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
• Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review
• Mitochondrial nucleic acid binding proteins associated with diseases
• Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients
• Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome
• Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome
• wANNOVAR: annotating genetic variants for personal genomes via the web