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Publications by Tommaso Pippucci

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism

American Journal of Human Genetics

English

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism

American Journal of Human Genetics

English

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

Gastroenterology

Gastroenterology

English

Correction To: The Landscape of Epilepsy-Related GATOR1 Variants

Genetics in Medicine

English

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

The Homozygosity Index (HI) Approach Reveals High Allele Frequency for Wilson Disease in the Sardinian Population

European Journal of Human Genetics

English

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

English