Giovanni Ferrero-Battista

Turin, 10126, Italy

Last Updated: 09/26/2026

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Found 12 publications

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Journal: Human genetics

Published: November 21, 2025

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Journal: European journal of human genetics : EJHG

Published: February 16, 2024

Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.

Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.

Journal: Journal of genetics

Published: March 12, 2021

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome.

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome.

Journal: Cancers

Published: November 11, 2018

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.

Journal: Immunology letters

Published: December 11, 2017

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

Journal: Pediatrics

Published: April 11, 2017

PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts.

PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts.

Journal: Cancers

Published: February 22, 2017

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome.

Journal: European journal of medical genetics

Published: August 24, 2015

Remittent hyperammonemia in congenital portosystemic shunt.

Remittent hyperammonemia in congenital portosystemic shunt.

Journal: European journal of pediatrics

Published: April 07, 2009

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

Journal: European journal of pediatrics

Published: March 11, 2009

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Journal: European journal of medical genetics

Published: December 11, 2007

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

Journal: European journal of medical genetics

Published: January 30, 2007

Showing 1-12 of 12

Last Updated: 09/26/2026