Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping
普拉德-威利综合征和钙蛋白酶病两种无关综合征的诊断:来自三联体全基因组分析和同源二体性作图的启示
期刊:Genes
影响因子:2.8
doi:10.3390/genes15070946
Cuk, Mario; Unal, Busra; Bevanda, Andjela; Hayes, Connor P; Walker, McKenzie; Abraamyan, Feruza; Beluzic, Robert; Gornik, Kristina Crkvenac; Ozretic, David; Prutki, Maja; Nie, Qian; Reddi, Honey V; Ghazani, Arezou A