Presentation

Contact
Athanasia Stoupa is paediatrician, actually working as a Clinical Fellow in Paediatric Endocrinology. And Diabetology Department in Necker children’s University Hospital. She is PhD student, her thesis project is entitled: New molecular insights in pathogenesis of congenital hypothyroidism.
Resources & publications
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Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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Journal (source)J Exp Med
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function ...