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Home > Our Research Activities > List Of Publications > Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

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A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

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