Agatino Battaglia

Pisa, Italy

Last Updated: 09/26/2026

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Found 41 publications

Personal journeys to and in human genetics and dysmorphology.

Personal journeys to and in human genetics and dysmorphology.

Journal: American journal of medical genetics. Part A

Published: November 05, 2023

Seizures in trisomy 18: Prevalence, description, and treatment.

Seizures in trisomy 18: Prevalence, description, and treatment.

Journal: American journal of medical genetics. Part A

Published: November 12, 2022

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.

Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.

Journal: Frontiers in genetics

Published: May 26, 2022

Further characterization of NFIB-associated phenotypes: Report of two new individuals.

Further characterization of NFIB-associated phenotypes: Report of two new individuals.

Journal: American journal of medical genetics. Part A

Published: April 13, 2022

Reflections on observing faces in art.

Reflections on observing faces in art.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: March 14, 2021

The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.

The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.

Journal: American journal of medical genetics. Part A

Published: January 19, 2021

Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study.

Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study.

Journal: American journal of medical genetics. Part A

Published: July 29, 2020

Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals.

Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals.

Journal: American journal of medical genetics. Part A

Published: July 29, 2020

Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.

Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.

Journal: Journal of pediatric genetics

Published: May 27, 2020

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.

Journal: American journal of human genetics

Published: March 29, 2020

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

Journal: American journal of medical genetics. Part A

Published: October 20, 2019

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.

Journal: Scientific reports

Published: September 05, 2019

Showing 1-12 of 41

Last Updated: 09/26/2026