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Home > Our Research Activities > List Of Publications > The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

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

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

Genetics of craniofacial malformations

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