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Publications by Caterina Marconi

Contribution of Ultrarare Variants in mTOR Pathway Genes to Sporadic Focal Epilepsies

Annals of Clinical and Translational Neurology

English

ACTN1 Mutations Lead to a Benign Form of Platelet Macrocytosis Not Always Associated With Thrombocytopenia

British Journal of Haematology

English

A Novel Missense Mutation in ANO5/TMEM16E Is Causative for Gnathodiaphyseal Dyplasia in a Large Italian Pedigree

European Journal of Human Genetics

English

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