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Publications by Cinzia Neri

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

Related publications

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

American Journal of Human Genetics

English

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

American Journal of Human Genetics

English

Differential Allelic Expression of SOS1 and Hyperexpression of the Activating SOS1 C.755C Variant in a Noonan Syndrome Family

European Journal of Human Genetics

English

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics

English

Noonan Syndrome

Paediatrica Indonesiana

English

Disparate Mutations Confer Therapeutic Gain of Hsp104 Function

ACS Chemical Biology

Molecular Medicine

English

Low-Dose Dasatinib Rescues Cardiac Function in Noonan Syndrome

English