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Publications by Ciro Leonardo Pierri

Heterozygous RNF13 Gain-Of-Function Variants Are Associated With Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

American Journal of Human Genetics

English

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

American Journal of Human Genetics

English

Beyond the Big Five: Investigating Myostatin Structure, Polymorphism and Expression in Camelus Dromedarius

Frontiers in Genetics

Molecular Medicine

English