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Publications by Marco Seri

Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

Gastroenterology

Gastroenterology

English

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

Annals of Clinical and Translational Neurology

English

Mutant MYO1F Alters the Mitochondrial Network and Induces Tumor Proliferation in Thyroid Cancer

International Journal of Cancer

Cancer Research

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

unCOVERApp: An Interactive Graphical Application for Clinical Assessment of Sequence Coverage at the Base-Pair Level

English

MVK Mutations and Associated Clinical Features in Italian Patients Affected With Autoinflammatory Disorders and Recurrent Fever

European Journal of Human Genetics

English