Presentation
Engineer, PhD
Resources & publications
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2024Journal (source)Clin GenetNext Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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2023Journal (source)J Exp Med
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function ...