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Publications by Giuseppe Zampino

Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

American Journal of Human Genetics

English

Crisponi/Cold‐induced Sweating Syndrome: Differential Diagnosis, Pathogenesis and Treatment Concepts

Clinical Genetics

English

From Healing to Taking Care

Italian Journal of Pediatrics

English

Corrigendum: Gain-Of-Function SOS1 Mutations Cause a Distinctive Form of Noonan Syndrome

Nature Genetics

English

NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

American Journal of Human Genetics

English

A Double Cryptic Chromosome Imbalance Is an Important Factor to Explain Phenotypic Variability in Wolf–Hirschhorn Syndrome

European Journal of Human Genetics

English