Stephanie Moortgat
0000-0002-4783-8674
3 papers found
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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
Broadening the phenotypic spectrum and physiological insights related toEIF2S3variants
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