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

Barbara Testa

3PUBLICATIONS

8CO-AUTHORS

NeurogeneticsDevelopmental genetics (incl. sex determination)Sensory systems

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (3)

Sort by Publication Date:

|Oct 29, 2025

A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.

Rute Luísa Cabrita Pinto, Roberto Fancellu, Tiziana Benzi Markushi

|Apr 28, 2023

Exome Analysis Reveals Novel Missense and Deletion Variants in the <i>CC2D2A</i> Gene as Causative of Joubert Syndrome.

Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale

|Jul 27, 2022

<i>NSD1</i> Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.

Giuseppina Conteduca, Davide Cangelosi, Simona Coco

Pageof 1

Frequent Collaborators

3 joint publications

Giuseppina Conteduca

3 joint publications

Domenico Coviello

2 joint publications

Rute Luísa Cabrita Pinto

2 joint publications

Silvia Viaggi

1 joint publications

Davide Cangelosi

1 joint publications

Simona Coco

1 joint publications

Chiara Baldo

1 joint publications

Angela Elvira Covone

Frequent Collaborators

3 joint publications

Giuseppina Conteduca

3 joint publications

Domenico Coviello

2 joint publications

Rute Luísa Cabrita Pinto

2 joint publications

Silvia Viaggi

Top Related Videos

Cerebellar Regional Dissection for Molecular Analysis

Cerebellar Regional Dissection for Molecular Analysis

Published on : Dec 05, 2020

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

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

See more related videos

Top Related Videos

Cerebellar Regional Dissection for Molecular Analysis

Cerebellar Regional Dissection for Molecular Analysis

Published on : Dec 05, 2020

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

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

See more related videos