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List of works by Giuseppe Zampino

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

scientific article (publication date: October 2002)

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

scientific article

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

scientific journal article

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

scientific article

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

scientific article

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

scientific article

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

scientific article

Rhythmic tongue movements during sleep: a peculiar parasomnia in Costello syndrome

scientific article

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

scientific journal article

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