Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Rosario Ruta

3PUBLICATIONS

9CO-AUTHORS

Genetic immunologyInfant and child healthNeurogenetics

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (3)

Sort by Publication Date:

|Dec 30, 2025

Identification of a Novel Nonsense Mutation in the <i>IGSF1</i> Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family.

Rosario Ruta, Nicoletta Massaccesi, Mafalda Mucciolo

|Jul 29, 2025

Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center.

Silvia Ventresca, Laura Chioma, Rosario Ruta

|Jun 29, 2025

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Chiara Minotti, Sara Terreri, Andrea Del Fattore

Pageof 1

Frequent Collaborators

2 joint publications

Mafalda Mucciolo

1 joint publications

Maria Lisa Dentici

1 joint publications

Ludovico Graziani

1 joint publications

Maria Cristina Digilio

1 joint publications

Lorenzo Sinibaldi

1 joint publications

Laura Chioma

1 joint publications

Marco Cappa

1 joint publications

Carla Bizzarri

1 joint publications

Antonio Novelli

Frequent Collaborators

2 joint publications

Mafalda Mucciolo

1 joint publications

Maria Lisa Dentici

1 joint publications

Ludovico Graziani

1 joint publications

Maria Cristina Digilio

Top Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on : Jun 15, 2011

Measuring Cardiac Autonomic Nervous System (ANS) Activity in Children

Measuring Cardiac Autonomic Nervous System (ANS) Activity in Children

Published on : Apr 29, 2013

Skeletal Phenotype Analysis of a Conditional <em>Stat3</em> Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional <em>Stat3</em> Deletion Mouse Model

Published on : Jul 03, 2020

See more related videos

Top Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on : Jun 15, 2011

Measuring Cardiac Autonomic Nervous System (ANS) Activity in Children

Measuring Cardiac Autonomic Nervous System (ANS) Activity in Children

Published on : Apr 29, 2013

Skeletal Phenotype Analysis of a Conditional <em>Stat3</em> Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional <em>Stat3</em> Deletion Mouse Model

Published on : Jul 03, 2020

See more related videos