Rare Diseases
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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS). Guida Valentina et al. International journal of molecular sciences 2021 Jan 22(3) |
Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis. Rengasamy Venugopalan S et al. Orthodontics & craniofacial research 2017 Jun 20 Suppl 150-56 |
Genetic Screening in Patients with Craniofacial Malformations. Yoon Amanda J et al. Journal of pediatric genetics 2016 Dec 5(4) 220-224 |