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

Flavia Privitera

8PUBLICATIONS

101CO-AUTHORS

NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Genetics not elsewhere classifiedNeurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (8)

Sort by Publication Date:

|Apr 02, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Jan 28, 2026

Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature.

Flavia Privitera, Stefano Pagano, Lorenzo Cipriano

|Jun 25, 2025

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Mar 11, 2025

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2.

Flavia Privitera, Camilla Meossi, Filippo Maria Santorelli

|Oct 16, 2024

Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of <i>HPDL</i>-Related Neurological Disorders.

Matteo Baggiani, Devid Damiani, Flavia Privitera

|Sep 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina

Pageof 2

Frequent Collaborators

2 joint publications

Bertrand Chesneau

2 joint publications

Anne-Sophie Denommé-Pichon

2 joint publications

Valeria Capra

2 joint publications

Filippo Maria Santorelli

2 joint publications

Andrée Delahaye-Duriez

2 joint publications

Bert Callewaert

2 joint publications

Breanne Dale

2 joint publications

Michele Carullo

2 joint publications

Pierre Blanc

2 joint publications

Camille Engel

Frequent Collaborators

2 joint publications

Bertrand Chesneau

2 joint publications

Anne-Sophie Denommé-Pichon

2 joint publications

Valeria Capra

2 joint publications

Filippo Maria Santorelli

Top Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

Spinal Hernia Repair and Cauda Equina Repositioning After Lumbar Decompression under Three-Dimensional Microscopy: A Case Report and Literature Review

Spinal Hernia Repair and Cauda Equina Repositioning After Lumbar Decompression under Three-Dimensional Microscopy: A Case Report and Literature Review

Published on : Nov 08, 2024

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Published on : Mar 02, 2018

See more related videos

Top Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on : Dec 01, 2017

Spinal Hernia Repair and Cauda Equina Repositioning After Lumbar Decompression under Three-Dimensional Microscopy: A Case Report and Literature Review

Spinal Hernia Repair and Cauda Equina Repositioning After Lumbar Decompression under Three-Dimensional Microscopy: A Case Report and Literature Review

Published on : Nov 08, 2024

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Published on : Mar 02, 2018

See more related videos