Publications
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Filters: First Letter Of Last Name is D and Author is Duan, Ruizhi [Clear All Filters]
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62192
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62221