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Clinical expression of Menkes disease in a girl with X;13 translocation
1天前
已完结
Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing
1天前
求助中
ATP7A‐related copper transport disorders: A systematic review and definition of the clinical subtypes
2天前
已完结
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia
5个月前
已完结
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia
5个月前
已完结
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